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Ishikawa, Yoshihiro; Mizuno, Nobuyo; Holden, Paul; Lim, Pei Jin; Gould, Douglas B; Rohrbach, Marianne; Giunta, Cecilia; Bächinger, Hans Peter (2020). The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. Scientific Reports, 10:497.

Morlino, Silvia; Micale, Lucia; Ritelli, Marco; Rohrbach, Marianne; Zoppi, Nicoletta; Vandersteen, Anthony; Mackay, Sara; Agolini, Emanuele; Cocciadiferro, Dario; Sasaki, Erina; Madeo, Annalisa; Ferraris, Alessandro; Reardon, Willie; Di Rocco, Maja; Novelli, Antonio; Grammatico, Paola; Malfait, Fransiska; Mazza, Tommaso; Hakim, Alan; Giunta, Cecilia; Colombi, Marina; Castori, Marco (2020). COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap. Clinical Genetics, 97(3):396-406.

Burkhardt, Barbara Elisabeth Ursula; Menghini, Cristina; Rücker, Beate; Kellenberger, Christian Johannes; Valsangiacomo Buechel, Emanuela Regina (2020). Normal myocardial native T$_{1}$ values in children using single-point saturation recovery and modified look-locker inversion recovery (MOLLI). Journal of Magnetic Resonance Imaging (JMRI), 51(3):897-903.

Jobst-Schwan, Tilman; Klämbt, Verena; Tarsio, Maureen; et al; Laube, Guido F (2020). Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney International, 97(3):567-579.

Ommer, Johannes; Selfe, Joanna L; Wachtel, Marco; O'Brien, Eleanor M; Laubscher, Dominik; Roemmele, Michaela; Kasper, Stephanie; Delattre, Olivier; Surdez, Didier; Petts, Gemma; Kelsey, Anna; Shipley, Janet; Schäfer, Beat W (2020). Aurora A kinase inhibition destabilizes PAX3-FOXO1 and MYCN and synergizes with Navitoclax to induce Rhabdomyosarcoma cell death. Cancer Research, 80(4):832-842.

Brandao, Leonardo R; Albisetti, Manuela; Halton, Jacqueline; Bomgaars, Lisa; Chalmers, Elizabeth; Mitchell, Lesley G; Nurmeev, Ildar; Svirin, Pavel; Kuhn, Tomas; Zapletal, Ondrej; Tartakovsky, Igor; Simetzberger, Monika; Huang, Fenglei; Sun, Zhichao; Kreuzer, Jörg; Gropper, Savion; Brueckmann, Martina; Luciani, Matteo (2020). Safety of dabigatran etexilate for the secondary prevention of venous thromboembolism in children. Blood, 135(7):491-504.

Marazza, Alessandro; Galli, Carmela; Fasana, Elisa; Sgrignani, Jacopo; Burda, Patricie; Fassi, Enrico M A; Baumgartner, Matthias; Cavalli, Andrea; Molinari, Maurizio (2020). Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome. DNA and cell biology, 39(2):226-234.

Redli, Patrick M; Wanzenried, Adrian; Huder, Jon B; Berger, Christoph; Berlinger, Livia; Capaul, Riccarda; Böni, Jürg; Zbinden, Andrea (2020). Evaluation of the RIDA®GENE RT-PCR assays for detection of sapovirus, astrovirus, adenovirus, and rotavirus in stool samples of adults in Switzerland. Diagnostic Microbiology and Infectious Disease, 96(2):114924.

Weins, Andreas Benedikt; Theiler, Martin; Bogatu, Bettina; Kerl, Karin; Pleimes, Marc; Pachlopnik Schmid, Jana; Weibel, Lisa (2020). Febrile ulceronecrotic Mucha‐Habermann disease mimicking Kawasaki disease. JDDG - Journal der Deutschen Dermatologischen Gesellschaft, 18(2):140-142.

Meyer Sauteur, Patrick M; Theiler, Martin; Buettcher, Michael; Seiler, Michelle; Weibel, Lisa; Berger, Christoph (2020). Frequency and Clinical Presentation of Mucocutaneous Disease Due to Mycoplasma pneumoniae Infection in Children With Community-Acquired Pneumonia. JAMA Dermatology, 156(2):144.

Meienberg, Fiona. Diffusions-Tensor-Bildgebung als Prädiktor von Dyskalkulie bei Kindern. 2020, University of Zurich, Faculty of Medicine.

Jenni, Oskar G (2020). Typical Sleep Development. In: Hupp, Stephen; Jewell, Jeremy D. The Encyclopedia of Child and Adolescent Development. New York: John Wiley & Sons Inc, Epub ahead of print.

Swiss Transplant Cohort Study; van Delden, Christian; Stampf, Susanne; Hirsch, Hans H; Manuel, Oriol; Meylan, Pascal; Cusini, Alexia; Hirzel, Cédric; Khanna, Nina; Weisser, Maja; Garzoni, Christian; Boggian, Katja; Berger, Christoph; Nadal, David; Koller, Michael; Saccilotto, Ramon; Mueller, Nicolas J (2020). Burden and Timeline of Infectious Diseases in the First Year After Solid Organ Transplantation in the Swiss Transplant Cohort Study. Clinical Infectious Diseases:Epub ahead of print.

Haag, Ann-Christin; Landolt, Markus A; Kenardy, Justin A; Schiestl, Clemens M; Kimble, Roy M; De Young, Alexandra C (2020). Preventive intervention for trauma reactions in young injured children: results of a multi-site randomised controlled trial. Journal of Child Psychology and Psychiatry:Epub ahead of print.

Gerstenberg, Miriam; Furrer, Melanie; Tesler, Noemi; Franscini, Maurizia; Walitza, Susanne; Huber, Reto (2020). Reduced sleep spindle density in adolescent patients with early-onset schizophrenia compared to major depressive disorder and healthy controls. Schizophrenia Research:Epub ahead of print.

Arora, S; Srivastava, M V Padma; Singh, M B; Goyal, V; Häberle, J; Gupta, N; Prabhakar, A; Aggarwal, B; Agarwal, A; Vishnu, V Y (2020). Adult onset type II citrullinemia--a great masquerader. QJM: monthly journal of the Association of Physicians, 113(1):49-51.

Ehrler, Melanie; Latal, Beatrice; Kretschmar, Oliver; von Rhein, Michael; O'Gorman Tuura, Ruth (2020). Altered frontal white matter microstructure is associated with working memory impairments in adolescents with congenital heart disease: A diffusion tensor imaging study. NeuroImage: Clinical, 25:102123.

Atac, David Grubich; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1):132-148.

Möhrlen, Ueli; Ochsenbein-Kölble, Nicole; Mazzone, Luca; Kraehenmann, Franziska; Hüsler, Margaret; Casanova, Barbara; Biro, Peter; Wille, David; Latal, Bea; Scheer, Ianina; Bernet, Vera; Moehrlen, Theres; Held, Leonhard; Flake, Alan W; Zimmermann, Roland; Meuli, Martin (2020). Benchmarking against the MOMS Trial: Zurich Results of Open Fetal Surgery for Spina Bifida. Fetal Diagnosis and Therapy, 47(2):91-97.

Feldmann, Maria; Rousson, Valentin; Nguyen, Thi Dao; Bernet, Vera; Hagmann, Cornelia; Latal, Beatrice; Natalucci, Giancarlo (2020). Cognitive outcome of early school-aged children born very preterm is not predicted by early short-term amplitude-integrated electroencephalography. Acta Paediatrica, 109(1):78-84.

Haslbeck, Friederike Barbara; Jakab, Andras; Held, Ulrike; Bassler, Dirk; Bucher, Hans-Ulrich; Hagmann, Cornelia (2020). Creative music therapy to promote brain function and brain structure in preterm infants: A randomized controlled pilot study. NeuroImage: Clinical, 25:102171.

de Haan, Anke; Landolt, Markus A; Fried, Eiko I; et al (2020). Dysfunctional posttraumatic cognitions, posttraumatic stress and depression in children and adolescents exposed to trauma: a network analysis. Journal of Child Psychology and Psychiatry, 61(1):77-87.

Lou, Phing-How; Lucchinetti, Eliana; Hersberger, Martin; Clanachan, Alexander S; Zaugg, Michael (2020). Lipid Emulsion Containing High Amounts of n3 Fatty Acids (Omegaven) as Opposed to n6 Fatty Acids (Intralipid) Preserves Insulin Signaling and Glucose Uptake in Perfused Rat Hearts. Anesthesia and Analgesia, 130(1):37-48.

van der Ven, J P G; Sadighy, Z; Valsangiacomo Buechel, E R; Sarikouch, S; Robbers-Visser, D; Kellenberger, C J; Kaiser, T; Beerbaum, P; Boersma, E; Helbing, W A (2020). Multicentre reference values for cardiac magnetic resonance imaging derived ventricular size and function for children aged 0-18 years. European Heart Journal. Cardiovascular Imaging, 21(1):102-113.

Goldstone, Andrew B; Baiocchi, Michael; Wypij, David; Stopp, Christian; Andropoulos, Dean B; Atallah, Joseph; Atz, Andrew M; Beca, John; Donofrio, Mary T; Duncan, Kim; Ghanayem, Nancy S; Goldberg, Caren S; Hövels-Gürich, Hedwig; Ichida, Fukiko; Jacobs, Jeffrey P; Justo, Robert; Latal, Beatrice; Li, Jennifer S; Mahle, William T; McQuillen, Patrick S; Menon, Shaji C; Pike, Nancy A; Pizarro, Christian; Shekerdemian, Lara S; Synnes, Anne; Williams, Ismée A; Bellinger, David C; Newburger, Jane; Gaynor, J William (2020). The Bayley-III scale may underestimate neurodevelopmental disability after cardiac surgery in infants. European Journal of Cardio-Thoracic Surgery, 57(1):63-71.

Meier, S B B; Uenver, Y; Stooss, A; Meyer-Heim, A (2020). Frequency, Characteristics and Risk Factors of Aggressive Incidents in a Paediatric Rehabilitation Setting: A Prospective Survey. Developmental Neurorehabilitation, 23(1):9-17.

Petersdorf, Effie W; Carrington, Mary; O'hUigin, Colm; Bengtsson, Mats; De Santis, Dianne; Dubois, Valerie; Gooley, Ted; Horowitz, Mary; Hsu, Katharine; Madrigal, J Alejandro; Maiers, Martin J; Malkki, Mari; McKallor, Caroline; Morishima, Yasuo; Oudshoorn, Machteld; Spellman, Stephen R; Villard, Jean; Stevenson, Phil (2020). Role of HLA-B exon 1 in graft-versus-host disease after unrelated haemopoietic cell transplantation: a retrospective cohort study. The Lancet Haematology, 7(1):e50-e60.

Dubacher, Nicolo; Münger, Justyna; Gorosabel, Maria C; Crabb, Jessica; Ksiazek, Agnieszka A; Caspar, Sylvan M; Bakker, Erik N T P; van Bavel, Ed; Ziegler, Urs; Carrel, Thierry; Steinmann, Beat; Zeisberger, Steffen; Meienberg, Janine; Matyas, Gabor (2020). Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. Cardiovascular Research, 116(2):457-465.

Brockmann, Knut; Blank, Rainer; Landolt, Markus A; von Voss, Hubertus; Schmid, Raimund; Schlack, Hans Georg (2020). Chronische Krankheiten und Rehabilitation bei Kindern und Jugendlichen. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred; Berner, Reinhard. Pädiatrie : Grundlagen und Praxis. Heidelberg: Springer, 1-17.

Prchal, Alice; Bergsträsser, Eva (2020). Chronische primäre Schmerzen Therapie im Kindes- und Jugendalter. Kinderärztliche Praxis, (1):10-13.

Steinmann, Beat; Rohrbach, Marianne; Matyas, Gabor (2020). Hereditäre Bindegewebskrankheiten bei Kindern und Jugendlichen. In: Hoffmann, G; Lentze, M; Spranger, Joachim; Zepp, F. Pädiatrie : Grundlagen und Praxis. Heidelberg: Springer, 1-25.

Isler, Jasmine; Rüfenacht, Véronique; Gemperle, Corinne; Allegri, Gabriella; Häberle, Johannes (2020). Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing. JIMD Reports:Epub ahead of print.

Wiedemann, Arnaud; Chery, Céline; Coelho, David; Flayac, Justine; Gueguen, Naïg; Desquiret-Dumas, Valérie; Feillet, François; Lavigne, Christian; Neau, Jean-Philippe; Fowler, Brian; Baumgartner, Matthias R; Reynier, Pascal; Guéant, Jean-Louis; Oussalah, Abderrahim (2020). Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. Journal of Human Genetics, 65(2):91-98.

Hauri-Hohl, Mathias; Trück, Johannes (2020). Physiologie der B- und T-Lymphozyten. In: Hoffmann, Georg F; Lentze, Michael J; Spranger, Jürgen; Zepp, Fred. Pädiatrie : Grundlagen und Praxis. Heidelberg: Springer, 1-11.

Najafi, Arash; Caspar, Sylvan M; Meienberg, Janine; Rohrbach, Marianne; Steinmann, Beat; Matyas, Gabor (2020). Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies. Clinical Genetics, 97(2):235-245.

Keller, Jeffrey W; Balzer, Julia; Fahr, Annina; Lieber, Jan; Keller, Urs; van Hedel, Hubertus J A (2019). First validation of a novel assessgame quantifying selective voluntary motor control in children with upper motor neuron lesions. Scientific Reports, 9:19972.

Frühwald, Michael C; Hasselblatt, Martin; Nemes, Karolina; Bens, Susanne; Steinbügl, Mona; Johann, Pascal D; Kerl, Kornelius; Hauser, Peter; Quiroga, Eduardo; Solano-Paez, Palma; Biassoni, Veronica; Gil-da-Costa, Maria Joao; Perek-Polnik, Martha; van de Wetering, Marianne; Sumerauer, David; Pears, Jane; Stabell, Niklas; Holm, Stefan; Hengartner, Heinz; Gerber, Nicolas U; Grotzer, Michael; Boos, Joachim; Ebinger, Martin; Tippelt, Stefan; Paulus, Werner; Furtwängler, Rhoikos; Hernáiz-Driever, Pablo; Reinhard, Harald; Rutkowski, Stefan; Schlegel, Paul-Gerhardt; et al (2019). Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors. Neuro-Oncology:Epub ahead of print.

Smakaj, Erand; Babrak, Lmar; Ohlin, Mats; Shugay, Mikhail; Briney, Bryan; Tosoni, Deniz; Galli, Christopher; Grobelsek, Vendi; D’Angelo, Igor; Olson, Branden; Reddy, Sai; Greiff, Victor; Trück, Johannes; Marquez, Susanna; Lees, William; Miho, Enkelejda (2019). Benchmarking immunoinformatic tools for the analysis of antibody repertoire sequences. Bioinformatics:Epub ahead of print.

Gnannt, Ralph; Guggenberger, Roman; Mueller, Daniel A; Neuhaus, Kathrin; Aufdenblatten, Christoph; Theiler, Martin; Kellenberger, Christian J; Pfammatter, Thomas (2019). MR Features of Juxta-Articular Venous Malformations of the Knee to Predict the Clinical Outcome of Sclerotherapy. Journal of Vascular and Interventional Radiology:Epub ahead of print.

Sanders, Ashley D; Meiers, Sascha; Ghareghani, Maryam; Porubsky, David; Jeong, Hyobin; van Vliet, M Alexandra C C; Rausch, Tobias; Richter-Pechańska, Paulina; Kunz, Joachim B; Jenni, Silvia; Bolognini, Davide; Longo, Gabriel M C; Raeder, Benjamin; Kinanen, Venla; Zimmermann, Jürgen; Benes, Vladimir; Schrappe, Martin; Mardin, Balca R; Kulozik, Andreas E; Bornhauser, Beat; Bourquin, Jean-Pierre; Marschall, Tobias; Korbel, Jan O (2019). Single-cell analysis of structural variations and complex rearrangements with tri-channel processing. Nature Biotechnology:Epub ahead of print.

Pyngottu, Ashima; Werner, Helene; Lehmann, Phaedra; Balmer, Christian (2019). Health-Related Quality of Life and Psychological Adjustment of Children and Adolescents with Pacemakers and Implantable Cardioverter Defibrillators: A Systematic Review. Pediatric Cardiology, 40(1):1-16.

Neve, Anuja; Migliavacca, Jessica; Capdeville, Charles; Schönholzer, Marc Thomas; Gries, Alexandre; Ma, Min; Santhana Kumar, Karthiga; Grotzer, Michael; Baumgartner, Martin (2019). Crosstalk between SHH and FGFR Signaling Pathways Controls Tissue Invasion in Medulloblastoma. Cancers, 11:12.

Ryll, Ulrike C; Bastiaenen, Caroline H G; Iten, Nicole; van Hedel, Hubertus J A (2019). Administration of the German Pediatric Evaluation of Disability Inventory (PEDI-G) Using the Mode of Observation in Children Undergoing Inpatient Rehabilitation: A Reliability and Validity Study. Physical & Occupational Therapy in Pediatrics:Epub ahead of print.

Attarbaschi, Andishe; Mann, Georg; Zimmermann, Martin; Bader, Peter; Barisone, Elena; Basso, Giuseppe; Biondi, Andrea; Cario, Gunnar; Cazzaniga, Gianni; Colombini, Antonella; Flotho, Christian; Kuhlen, Michaela; Lang, Peter; Lauten, Melchior; Linderkamp, Christin; Locatelli, Franco; Lo Nigro, Luca; Möricke, Anja; Niggli, Felix; Panzer-Grümayer, Renate; Parasole, Rosanna; Peters, Christina; Caterina Putti, Maria; Rizzari, Carmelo; Suttorp, Meinolf; Valsecchi, Maria Grazia; Conter, Valentino; Schrappe, Martin; on behalf of the AIEOP-BFM (Associazione Italiana di Ematologia, ? (2019). Randomized post-induction and delayed intensification therapy in high-risk pediatric acute lymphoblastic leukemia: long-term results of the international AIEOP-BFM ALL 2000 trial. Leukemia:Epub ahead of print.

Safran, Szilard Laszlo; Balmer, Christian; Savoldelli, Georges (2019). Reversible cerebral vasoconstriction syndrome during caesarean section. BMJ Case Reports, 12(12):e230606.

Neuhaus, Kathrin; Landolt, Markus A; Theiler, Martin; Schiestl, Clemens; Masnari, Ornella (2019). Skin-related quality of life in children and adolescents with congenital melanocytic nevi - analysis of self- and parent reports. Journal of the European Academy of Dermatology and Venerology:Epub ahead of print.

Cernoch, Patrick S; Fournier, Nicolas; Zeitz, Jonas; Scharl, Michael; Morell, Bernhard; Greuter, Thomas; Schreiner, Philipp; Misselwitz, Benjamin; Safroneeva, Ekaterina; Schoepfer, Alain M; Vavricka, Stephan R; Rogler, Gerhard; Biedermann, Luc (2019). Lower Risk of B1-to-pB3-Stage Migration in Crohn’s Disease Upon Immunosuppressive and Anti-TNF Treatment in the Swiss IBD Cohort Study. Digestive Diseases and Sciences:Epub ahead of print.

Adel Fahmideh, Maral; Lavebratt, Catharina; Tettamanti, Giorgio; Schüz, Joachim; Röösli, Martin; Kjaerheim, Kristina; Grotzer, Michael A; Johansen, Christoffer; Kuehni, Claudia E; Lannering, Birgitta; Schmidt, Lisbeth S; Darabi, Hatef; Feychting, Maria (2019). A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk. Scientific Reports, 9(1):18142.

Leeger-Aschmann, Claudia S; Schmutz, Einat A; Zysset, Annina E; Kakebeeke, Tanja H; Messerli-Bürgy, Nadine; Stülb, Kerstin; Arhab, Amar; Meyer, Andrea H; Munsch, Simone; Jenni, Oskar G; Puder, Jardena J; Kriemler, Susi (2019). Accelerometer-derived physical activity estimation in preschoolers – comparison of cut-point sets incorporating the vector magnitude vs the vertical axis. BMC Public Health, 19(1):513.

Tsortouktzidis, Despina; Grundke, Kathleen; Till, Claudia; Korwitz-Reichelt, Anne; Sass, Jörn Oliver (2019). Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid. Metabolic brain disease, 34(6):1629-1634.

Naef, Nadja; Wehrle, Flavia; Rousson, Valentin; Latal, Beatrice (2019). Cohort and Individual Neurodevelopmental Stability between 1 and 6 Years of Age in Children with Congenital Heart Disease. Journal of Pediatrics, 215:83-89.e2.

Mauracher, Andrea A; Eekels, Julia J M; Woytschak, Janine; et al; Schmugge, Markus; Trück, Johannes (2019). Erythropoiesis defect observed in STAT3 GOF patients with severe anaemia. Journal of Allergy and Clinical Immunology:Epub ahead of print.

Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25:6.

Boran, Ece; Sarnthein, Johannes; Krayenbühl, Niklaus; Ramantani, Georgia; Fedele, Tommaso (2019). High-frequency oscillations in scalp EEG mirror seizure frequency in pediatric focal epilepsy. Scientific Reports, 9(1):16560.

Balmer, Christian; Gass, Matthias; Dave, Hitendu; Duru, Firat; Luechinger, Roger (2019). Magnetic resonance imaging of patients with epicardial leads: in vitro evaluation of temperature changes at the lead tip. Journal of Interventional Cardiac Electrophysiology, 56(3):321-326.

Moehrlen, Theres; Landolt, Markus A; Meuli, Martin; Moehrlen, Ueli (2019). Non intentional burns in children: Analyzing prevention and acute treatment in a highly developed country. Burns, 45(8):1908-1917.

Huang, Yun; Mouttet, Brice; Warnatz, Hans-Jörg; Risch, Thomas; Rietmann, Fabian; Frommelt, Fabian; Ngo, Quy A; Dobay, Maria Pamela; Marovca, Blerim; Jenni, Silvia; Tsai, Yi-Chien; Matzk, Sören; Amstislavskiy, Vyacheslav; Schrappe, Martin; Stanulla, Martin; Gstaiger, Matthias; Bornhauser, Beat; Yaspo, Marie-Laure; Bourquin, Jean-Pierre (2019). The Leukemogenic TCF3-HLF Complex Rewires Enhancers Driving Cellular Identity and Self-Renewal Conferring EP300 Vulnerability. Cancer Cell, 36(6):630-644.e9.

Franceschi, Enrico; Hofer, Silvia; Brandes, Alba A; et al; Grotzer, Michael; Stücklin, Ana S Guerreiro; Weller, Michael (2019). EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma. Lancet Oncology, 20(12):e715-e728.

Rudnik-Schöneborn, Sabine; Huemer, Martina; Weis, Joachim; Sauer, Elizabeta; Meng, Gerhard (2019). Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia. Neuromuscular Disorders : NMD, 29(12):973-976.

Lagies, Ruth; Udink Ten Cate, Floris E A; Feldkötter, Markus; Beck, Bodo B; Sreeram, Narayanswami; Hoppe, Bernd; Herberg, Ulrike (2019). Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study. Pediatric Nephrology, 34(12):2591-2600.

Furrer, Melanie; Jaramillo, Valeria; Volk, Carina; Ringli, Maya; Aellen, Robert; Wehrle, Flavia M; Pugin, Fiona; Kurth, Salome; Brandeis, Daniel; Schmid, Markus; Jenni, Oskar G; Huber, Reto (2019). Sleep EEG slow-wave activity in medicated and unmedicated children and adolescents with attention-deficit/hyperactivity disorder. Translational Psychiatry, 9(1):324.

Sasivari, Zerin; Szinnai, Gabor; Seebauer, Britta; Konrad, Daniel; Lang-Muritano, Mariarosaria (2019). Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. Journal of Pediatric Endocrinology & Metabolism, 32(11):1299-1303.

Jägle, Sabine; Heeg, Maximilian; Grün, Sarah; et al; Mauracher, Andrea; Pachlopnik Schmid, Jana (2019). Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. Clinical Immunology, 210:108316.

Evers, Roeland A F; Wegberg, Annemiek M J; Anjema, Karen; Lubout, Charlotte M A; Dam, Esther; Vliet, Danique; Blau, Nenad; Spronsen, Francjan J (2019). The first European guidelines on phenylketonuria: Usefulness and implications for BH 4 responsiveness testing. Journal of Inherited Metabolic Disease:Epub ahead of print.

Callaghan, Fraser M; Burkhardt, Barbara; Geiger, Julia; Valsangiacomo Buechel, Emanuela R; Kellenberger, Christian J (2019). Flow quantification dependency on background phase correction techniques in 4D-flow MRI. Magnetic Resonance in Medicine:Epub ahead of print.

Moehrlen, Ueli; Elrod, Julia; Ochsenbein-Kölble, Nicole; Berger, Christoph; Speck, Roberto F; Mazzone, Luca; Krähenmann, Franziska; Zimmermann, Roland; Meuli, Martin (2019). In utero Hepatitis B Immunization during Fetal Surgery for Spina Bifida. Fetal Diagnosis and Therapy:1-4.

Ehrler, Melanie; Latal, Beatrice; Polentarutti, Susanne; von Rhein, Michael; Held, Leonhard; Wehrle, Flavia M (2019). Pitfalls of using IQ short forms in neurodevelopmental disorders: a study in patients with congenital heart disease. Pediatric Research:Epub ahead of print.

Sparber-Sauer, Monika; Vokuhl, Christian; Seitz, Guido; Stegmaier, Sabine; Hallmen, Erika; von Kalle, Thekla; Scheer, Monika; Münter, Marc; Bielack, Stefan S; Ladenstein, Ruth; Niggli, Felix; Ljungman, Gustaf; Fuchs, Joerg; Klingebiel, Thomas; Koscielniak, Ewa; CWS Study Group, ? (2019). The impact of local control in the treatment of children with advanced infantile and adult-type fibrosarcoma: experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). Journal of Pediatric Surgery:Epub ahead of print.

Jakab, András; Scheer, Ianina; Kottke, Raimund; Tuura, Ruth L (2019). Fetal IVIM. In: Le Bihan, Denis; lima, Mami; Federau, Christian; Sigmund, Eric E. Intravoxel incoherent motion (IVIM) MRI : principles and applications. Singapore: Pan Stanford Publishing, 339-352.

Zeltner, Nina A; Welsink-Karssies, Mendy M; Landolt, Markus A; Bosshard-Bullinger, Dominique; Keller, Fabia; Bosch, Annet M; Groenendijk, Marike; Grünert, Sarah C; Karall, Daniela; Rettenbacher, Beatrix; Scholl-Bürgi, Sabine; Baumgartner, Matthias R; Huemer, Martina (2019). Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. Orphanet Journal of Rare Diseases, 14(1):248.

Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean‐Marc; Strom, Stephen C (2019). A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency. Journal of Inherited Metabolic Disease, 42(6):1054-1063.

Preka, Evgenia; Bonthuis, Marjolein; Harambat, Jerome; et al; Weitz, Marcus (2019). Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study. Nephrology, Dialysis, Transplantation, 34(11):1932-1940.

Allegri, Gabriella; Deplazes, Sereina; Rimann, Nicole; Causton, Benjamin; Scherer, Tanja; Leff, Jonathan W; Diez‐Fernandez, Carmen; Klimovskaia, Anna; Fingerhut, Ralph; Krijt, Jakub; Kožich, Viktor; Nuoffer, Jean‐Marc; Grisch‐Chan, Hiu M; Thöny, Beat; Häberle, Johannes (2019). Comprehensive characterization of ureagenesis in the spf ash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification. Journal of Inherited Metabolic Disease, 42(6):1064-1076.

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Gall, Markus; Kohn, Bernhard; Wiesmeyr, Christoph; van Sluijs, Rachel M; Wilhelm, Elisabeth; Rondei, Quincy; Jäger, Lukas; Achermann, Peter; Landolt, Hans-Peter; Jenni, Oskar G; Riener, Robert; Garn, Heinrich; Hill, Catherine M (2019). A Novel Approach to Assess Sleep-Related Rhythmic Movement Disorder in Children Using Automatic 3D Analysis. Frontiers in Psychiatry, 10:709.

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Knirsch, Walter; Heye, Kristina N; O'Gorman Tuura, Ruth; Hahn, Andreas; Wetterling, Kristina; Latal, Beatrice; Schranz, Dietmar; Reich, Bettina (2019). Smaller brain volumes at two years of age in patients with hypoplastic left heart syndrome - Impact of surgical approach. International Journal of Cardiology, (291):42-44.

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Nicklaus, Sophie; Divaret-Chauveau, Amandine; Chardon, Marie-Laure; Roduit, Caroline; Lauener, Roger; et al; PASTURE Study Group (2019). The protective effect of cheese consumption at 18 months on allergic diseases in the first 6 years. Allergy, 74(4):788-798.

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Cueli, Marisol; Areces, Débora; McCaskey, Ursina; González-Castro, Paloma; Álvarez-García, David (2019). Mathematics Competence Level: The Contribution of Non-symbolic and Spatial Magnitude Comparison Skills. Frontiers in Psychology, 10:465.

Cruzeiro, Gustavo Alencastro Veiga; Salomão, Karina Bezerra; de Biagi, Carlos Alberto Oliveira; Baumgartner, Martin; Sturm, Dominik; Lira, Régia Caroline Peixoto; de Almeida Magalhães, Taciani; Baroni Milan, Mirella; da Silva Silveira, Vanessa; Saggioro, Fabiano Pinto; de Oliveira, Ricardo Santos; Dos Santos Klinger, Paulo Henrique; Seidinger, Ana Luiza; Yunes, José Andrés; de Paula Queiroz, Rosane Gomes; Oba-Shinjo, Sueli Mieko; Scrideli, Carlos Alberto; Nagahashi, Suely Marie Kazue; Tone, Luiz Gonzaga; Valera, Elvis Terci (2019). A simplified approach using Taqman low-density array for medulloblastoma subgrouping. Acta Neuropathologica Communications, 7:33.

Ammann-Reiffer, Corinne; Bastiaenen, Caroline H. G; Klöti, Corina; van Hedel, Hubertus J A (2019). Concurrent Validity of Two Gait Performance Measures in Children with Neuromotor Disorders. Physical & Occupational Therapy in Pediatrics, 39(2):181-192.

Granegger, Marcus; Dave, Hitendu; Knirsch, Walter; Thamsen, Bente; Schweiger, Martin; Hübler, Michael (2019). A Valveless Pulsatile Pump for the Treatment of Heart Failure with Preserved Ejection Fraction: A Simulation Study. Cardiovascular Engineering and Technology, 10(1):69-79.

Callegari, Alessia; Neidenbach, Rhoia; Milanesi, Ornella; Castaldi, Biagio; Christmann, Martin; Ono, Masamichi; Müller, Jan; Ewert, Peter; Hager, Alfred (2019). A restrictive ventilatory pattern is common in patients with univentricular heart after Fontan palliation and associated with a reduced exercise capacity and quality of life. Congenital Heart Disease, 14(2):147-155.

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Traxel, Sabrina; Schadt, Linda; Eyer, Tatjana; Mordasini, Vanessa; Gysin, Claudine; Munthe, Ludvig A; Niggli, Felix; Nadal, David; Bürgler, Simone (2019). Bone marrow T helper cells with a Th1 phenotype induce activation and proliferation of leukemic cells in precursor B acute lymphoblastic leukemia patients. Oncogene, 38(13):2420-2431.

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El Hawary, Rabab E; Mauracher, Andrea A; Meshaal, Safa S; Eldash, Alia; Abd Elaziz, Dalia S; Alkady, Radwa; Lotfy, Sohilla; Opitz, Lennart; Galal, Nermeen M; Boutros, Jeannette A; Pachlopnik Schmid, Jana; Elmarsafy, Aisha M (2019). MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes. The Journal of Allergy and Clinical Immunology: In Practice, 7(3):856-863.

Kogias, Evangelos; Schmeiser, Barbara; Doostkam, Soroush; Brandt, Armin; Hammen, Thilo; Zentner, Josef; Ramantani, Georgia (2019). Multilobar Resections for 3T MRI-Negative Epilepsy: Worth the Trouble? World Neurosurgery, 123:e338-e347.

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Patterson, Christopher C; Harjutsalo, Valma; Rosenbauer, Joachim; Neu, Andreas; Cinek, Ondrej; Skrivarhaug, Torild; Rami-Merhar, Birgit; Soltesz, Gyula; Svensson, Jannet; Parslow, Roger C; Castell, Conxa; Schoenle, Eugen J; Bingley, Polly J; Dahlquist, Gisela; Jarosz-Chobot, Przemysława K; Marčiulionytė, Dalė; Roche, Edna F; Rothe, Ulrike; Bratina, Natasa; Ionescu-Tirgoviste, Constantin; Weets, Ilse; Kocova, Mirjana; Cherubini, Valentino; Rojnic Putarek, Natasa; deBeaufort, Carine E; Samardzic, Mira; Green, Anders (2019). Trends and cyclical variation in the incidence of childhood type 1 diabetes in 26 European centres in the 25 year period 1989-2013: a multicentre prospective registration study. Diabetologia, 62(3):408-417.

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Zahid, Maya; Khan, Aysha Habib; Yunus, Zabedah Md; Chen, Bee Chin; Steinmann, Beat; Johannes, Haberle; Afroze, Bushra (2019). Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan. JPMA. The Journal of the Pakistan Medical Association, 69(3):432-436.

Patel, Premal A; Minhas, Kishore; Ang, Jestine; Stuart, Sam; De Coppi, Paolo; Gnannt, Ralph (2019). Non-vascular interventional radiology in the paediatric alimentary tract. European Journal of Radiology, 112:72-81.

Klingler, Selina; Padden, Beth; Horridge, Karen A; van Hedel, Hubertus J A; Meyer-Heim, Andreas (2019). Verbesserung der Sprechstunde mit chronisch kranken Kindern: Gesundheits-, Funktions- und Wohlergehensampel. Praxis, 108(4):249-255.

Seiler, Michelle; Staubli, Georg (2019). Ketamine procedural analgosedation before and after introducing nitrous oxide 70% in a paediatric emergency department. Swiss Medical Weekly, 149:w20027.

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Yambire, King Faisal; Fernandez-Mosquera, Lorena; Steinfeld, Robert; Mühle, Christiane; Ikonen, Elina; Milosevic, Ira; Raimundo, Nuno (2019). Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases. eLife, 8:e39598.

Jessen, Elena; Vetter, Celine; Roenneberg, Till; Liesenkötter, Klaus-Peter; Werner, Helene; Jenni, Oskar; Lankes, Erwin; Blankenstein, Oliver; Neumann, Uta; Köhler, Birgit; Wiegand, Susanna; Krude, Heiko; Kühnen, Peter (2019). Sleep Timing in Patients with Precocious and Delayed Pubertal Development. Clocks, 1(1):140-150.

Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human Molecular Genetics, 28(4):639-649.

Fedele, Tommaso; Ramantani, Georgia; Sarnthein, J (2019). High frequency oscillations as markers of epileptogenic tissue - End of the Party. Clinical Neurophysiology, 130(5):624-626.

Cavusoglu, Mustafa; Zhang, Jia; Ielacqua, Giovanna Diletta; Pellegrini, Giovanni; Signorell, Rea Deborah; Papachristodoulou, Alexandros; Brambilla, Davide; Roth, Patrick; Weller, Michael; Rudin, Markus; Martin, Ernst; Leroux, Jean Christophe; Werner, Beat (2019). Closed-loop cavitation control for focused ultrasound-mediated blood-brain-barrier opening by long-circulating microbubbles. Physics in Medicine and Biology, 64(4):045012.

Aurich-Schuler, Tabea; Gut, Anja; Labruyère, Rob (2019). The FreeD module for the Lokomat facilitates a physiological movement pattern in healthy people - a proof of concept study. Journal of Neuroengineering and Rehabilitation (JNER), 16:26.

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Hecker, Tobias; Boettcher, Victoria S; Landolt, Markus A; Hermenau, Katharin (2019). Child neglect and its relation to emotional and behavioral problems: A cross-sectional study of primary school-aged children in Tanzania. Development and Psychopathology, 31(1):325-339.

Quandt, Daniel; Knirsch, Walter; Michel-Behnke, Ina; Kitzmüller, Erwin; Obradovic, Miko; Uhlemann, Frank; Kretschmar, Oliver (2019). First-in-man pulmonary artery stenting in children using the Bentley® BeGrow™ stent system for newborns and infants. International Journal of Cardiology, 276:107-109.

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Braun, Dominique L; Hampel, Benjamin; Kouyos, Roger; Nguyen, Huyen; Shah, Cyril; Flepp, Markus; Stöckle, Marcel; Conen, Anna; Béguelin, Charles; Künzler-Heule, Patrizia; Nicca, Dunja; Schmid, Patrick; Delaloye, Julie; Rougemont, Mathieu; Bernasconi, Enos; Rauch, Andri; Günthard, Huldrych F; Böni, Jürg; Fehr, Jan S; Swiss HIV Cohort Study (2019). High Cure Rates With Grazoprevir-Elbasvir With or Without Ribavirin Guided by Genotypic Resistance Testing Among Human Immunodeficiency Virus/Hepatitis C Virus-coinfected Men Who Have Sex With Men. Clinical Infectious Diseases, 68(4):569-576.

Braun, Dominique L; Hampel, Benjamin; Martin, Eileen; Kouyos, Roger; Kusejko, Katharina; Grube, Christina; Flepp, Markus; Stöckle, Marcel; Conen, Anna; Béguelin, Charles; Schmid, Patrick; Delaloye, Julie; Rougemont, Mathieu; Bernasconi, Enos; Rauch, Andri; Günthard, Huldrych F; Böni, Jürg; Fehr, Jan S; Swiss HIV Cohort Study (2019). High Number of Potential Transmitters Revealed in a Population-based Systematic Hepatitis C Virus RNA Screening Among Human Immunodeficiency Virus-infected Men Who Have Sex With Men. Clinical Infectious Diseases, 68(4):561-568.

Bachmann, Nadine; von Braun, Amrei; Labhardt, Niklaus D; Kadelka, Claus; Günthard, Huldrych F; Sekaggya-Wiltshire, Christine; Castelnuovo, Barbara; Kambugu, Andrew; Lejone, Thabo I; Böni, Jürg; Yerly, Sabine; Perreau, Matthieu; Klimkait, Thomas; Kouyos, Roger D; Fehr, Jan; Swiss HIV Cohort Study (2019). Importance of routine viral load monitoring: higher levels of resistance at ART failure in Uganda and Lesotho compared with Switzerland. Journal of Antimicrobial Chemotherapy, 74(2):468-472.

Widger, Kimberley; Medeiros, Christina; Trenholm, Madeline; Zuniga-Villanueva, Gregorio; Streuli, Jürg C (2019). Indicators Used to Assess the Impact of Specialized Pediatric Palliative Care: A Scoping Review. Journal of Palliative Medicine, 22(2):199-219.

Meshaal, S S; El Hawary, R E; Abd Elaziz, D S; Eldash, A; Alkady, R; Lotfy, S; Mauracher, Andrea A; Opitz, Lennart; Pachlopnik Schmid, Jana; van der Burg, M; Chou, J; Galal, N M; Boutros, J A; Geha, R; Elmarsafy, A M (2019). Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population. Clinical and Experimental Immunology, 195(2):202-212.

Neinast, Michael D; Jang, Cholsoon; Hui, Sheng; Murashige, Danielle S; Li, Xiaoxuan; Chu, Qingwei; Morscher, Raphael J; Zhan, Le; White, Eileen; Anthony, Tracy G; Rabinowitz, Joshua D; Arany, Zoltan (2019). Quantitative Analysis of the Whole-Body Metabolic Fate of Branched-Chain Amino Acids. Cell Metabolism, 29(2):417-429.e4.

Mensen, Armand; Pigorini, Andrea; Facchin, Laura; Schöne, Cornelia; D'Ambrosio, Sasha; Jendoubi, Jasmine; Jaramillo, Valeria; Chiffi, Kathrin; Eberhard-Moscicka, Aleksandra K; Sarasso, Simone; Adamantidis, Antoine; Müri, René M; Huber, Reto; Massimini, Marcello; Bassetti, Claudio (2019). Sleep as a model to understand neuroplasticity and recovery after stroke: Observational, perturbational and interventional approaches. Journal of Neuroscience Methods, 313:37-43.

Farebrother, Jessica; Zimmermann, Michael B; Assey, Vincent; Castro, Mary Christine; Cherkaoui, Mohamed; Fingerhut, Ralph; Jia, Qingzhen; Jukic, Tomislav; Makokha, Anselimo; San Luis, Theofilo O; Wegmüller, Rita; Andersson, Maria (2019). Thyroglobulin Is Markedly Elevated in 6- to 24-Month-Old Infants at Both Low and High Iodine Intakes and Suggests a Narrow Optimal Iodine Intake Range. Thyroid, 29(2):268-277.

Wolking, Anna B; Park, Julien H; Grüneberg, Marianne; Reunert, Janine; Fingerhut, Ralph; Fobker, Manfred; Marquardt, Thorsten (2019). Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples. Journal of chromatography B, 1106/07:64-70.

Frey, Urs; Usemann, Jakob (2019). Addressing the complexity of prenatal and postnatal environmental exposures affecting childhood lung function. Lancet Planetary Health, 3(2):e51-e52.

Scheer, Monika; Vokuhl, Christian; Blank, Bernd; Hallmen, Erika; von Kalle, Thekla; Münter, Marc; Wessalowski, Rüdiger; Hartwig, Maite; Sparber-Sauer, Monika; Schlegel, Paul-Gerhardt; Kramm, Christof M; Kontny, Udo; Spriewald, Bernd; Kegel, Thomas; Bauer, Sebastian; Kazanowska, Bernarda; Niggli, Felix; Ladenstein, Ruth; Ljungman, Gustaf; Jahnukainen, Kirsi; Fuchs, Jörg; Bielack, Stefan S; Klingebiel, Thomas; Koscielniak, Ewa; Cooperative Weichteilsarkom Studiengruppe [CWS], ? (2019). Desmoplastic small round cell tumors: Multimodality treatment and new risk factors. Cancer Medicine, 8(2):527-542.

Yilmaz, Bahtiyar; Juillerat, Pascal; Øyås, Ove; Ramon, Charlotte; Bravo, Francisco Damian; Franc, Yannick; Fournier, Nicolas; Michetti, Pierre; Mueller, Christoph; Geuking, Markus; Pittet, Valerie E H; Maillard, Michel H; Rogler, Gerhard; Swiss IBD Cohort Investigators; Wiest, Reiner; Stelling, Jörg; Macpherson, Andrew J (2019). Microbial network disturbances in relapsing refractory Crohn's disease. Nature Medicine, 25(2):323-336.

Arrigoni, Filippo; Romaniello, Romina; Peruzzo, Denis; Poretti, Andrea; Bassi, Maria Teresa; Pierpaoli, Carlo; Valente, Enza Maria; Nuovo, Sara; Boltshauser, Eugen; Huisman, Thierry André Gerard Marie; Triulzi, Fabio; Borgatti, Renato (2019). The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. European Radiology, 29(2):770-782.

Gierisch, Maria E; Pedot, Gloria; Walser, Franziska; Lopez-Garcia, Laura A; Jaaks, Patricia; Niggli, Felix K; Schäfer, Beat W (2019). USP19 deubiquitinates EWS-FLI1 to regulate Ewing sarcoma growth. Scientific Reports, 9:951.

Gerber, Corinna N; Plebani, Anael; Labruyère, Rob (2019). Translation, reliability, and clinical utility of the Melbourne Assessment 2. Disability and Rehabilitation, 41(2):226-234.

Lukovic, Dominika; Gugerell, Alfred; Zlabinger, Katrin; Winkler, Johannes; Pavo, Noemi; Baranyai, Tamás; Giricz, Zoltán; Varga, Zoltán V; Riesenhuber, Martin; Spannbauer, Andreas; Traxler, Denise; Jakab, András; Garamvölgyi, Rita; Petnehazy, Örs; Pils, Dietmar; Tóth, Levente; Schulz, Rainer; Ferdinandy, Péter; Gyöngyösi, Mariann (2019). Transcriptional Alterations by Ischaemic Postconditioning in a Pig Infarction Model: Impact on Microvascular Protection. International Journal of Molecular Sciences, 20(2):344.

Seiler, Michelle; Staubli, Georg; Landolt, Markus A (2019). Combined nitrous oxide 70% with intranasal fentanyl for procedural analgosedation in children: a prospective, randomised, double-blind, placebo-controlled trial. Emergency Medicine Journal, 36:142-147.

Ouahchi, Ines; Zhang, Luduo; Benitez Brito, Ramon; Benz, Rudolf; Müller, Rouven; Bonadies, Nicolas; Tchinda, Joëlle (2019). Microarray-based comparative genomic hybridisation reveals additional recurrent aberrations in adult patients evaluated for myelodysplastic syndrome with normal karyotype. British Journal of Haematology, 184(2):282-287.

Tcymbarevich, Irina V; Eloranta, Jyrki J; Rossel, Jean-Benoît; Obialo, Nicole; Spalinger, Marianne; Cosin-Roger, Jesus; Lang, Silvia; Kullak-Ublick, Gerd A; Wagner, Carsten A; Scharl, Michael; Seuwen, Klaus; Ruiz, Pedro A; Rogler, Gerhard; de Vallière, Cheryl; Misselwitz, Benjamin; Swiss IBD Cohort Study Group (2019). The impact of the rs8005161 polymorphism on G protein-coupled receptor GPR65 (TDAG8) pH-associated activation in intestinal inflammation. BMC Gastroenterology, 19(1):2.

Ferreira, Carlos R; van Karnebeek, Clara D M; Vockley, Jerry; Blau, Nenad (2019). A proposed nosology of inborn errors of metabolism. Genetics in Medicine, 21(1):102-106.

Callaghan, Fraser M; Bannon, Paul; Barin, Edward; Celemajer, David; Jeremy, Richmond; Figtree, Gemma; Grieve, Stuart M (2019). Age-Related Changes of Shape and Flow Dynamics in Healthy Adult Aortas: A 4D Flow MRI Study. Journal of Magnetic Resonance Imaging (JMRI), 49(1):90-100.

Rocha Martin, Vanesa Natalin; Schwab, Clarissa; Krych, Lukasz; Voney, Evelyn; Geirnaert, Annelies; Braegger, Christian; Lacroix, Christophe (2019). Colonization of Cutibacterium avidum during infant gut microbiota establishment. FEMS Microbiology Ecology, 95(1):fiy215.

Kucian, Karin (2019). Die Entwicklung des Zahlenwissens vom Kindergarten bis in die Schule. Lernen und Lernstörungen, 7(4):61.

Hascoet, Sebastien; Dalla Pozza, Robert; Bentham, Jamie; Carere, Ronald Giacomo; Kanaan, Majed; Ewert, Peter; Biernacka, Elzbieta Katarzyna; Kretschmar, Oliver; Deutsch, Cornelia; Lecerf, Florence; Lehner, Anja; Kantzis, Marinos; Kurucova, Jana; Thoenes, Martin; Bramlage, Peter; Haas, Nikolaus A (2019). Early outcomes of percutaneous pulmonary valve implantation using the Edwards SAPIEN 3 transcatheter heart valve system. EuroIntervention, 14(13):1378-1385.

Patcas, Raphael; Daum, Moritz M; van Waes, Hubertus J M; Beltrani, Selina; Pfister, Lara T; Landolt, Markus A (2019). Emotions experienced during the shedding of the first primary tooth. International Journal of Paediatric Dentistry, 29(1):22-28.

Nüesch, Ursina; Mauracher, Andrea A; Opitz, Lennart; Volkmer, Benjamin; Michalak-Mićka, Katarzyna; Kamarashev, Jivko; Hartwig, Tom; Reichmann, Ernst; Becher, Burkhard; Vavassori, Stefano; Pachlopnik Schmid, Jana (2019). Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes. Journal of Allergy and Clinical Immunology, 143(1):292-304.e8.

Ratjen, Felix; Moeller, Alexander; McKinney, Martha L; Asherova, Irina; Alon, Nipa; Maykut, Robert; Angyalosi, Gerhild; EARLY study group (2019). Eradication of early P. aeruginosa infection in children <7 years of age with cystic fibrosis: The early study. Journal of Cystic Fibrosis, 18(1):78-85.

Malikova, Jana; Zingg, Tanja; Fingerhut, Ralph; Sluka, Susanna; Grössl, Michael; Brixius-Anderko, Simone; Bernhardt, Rita; McDougall, Jane; Pandey, Amit V; Flück, Christa E (2019). HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone Research in Paediatrics, 91(4):262-270.

Heye, Pascal; Moehrlen, Ueli; Mazzone, Luca; Weil, Robert; Altermatt, Stefan; Wille, David-Alexander; Scheer, Ianina; Meuli, Martin; Horst, Maya (2019). Inclusion Cysts after Fetal Spina Bifida Repair: A Third Hit? Fetal Diagnosis and Therapy, 46(1):38-44.

Stöberl, Anna S; Gaisl, Thomas; Giunta, Cecilia; Sievi, Noriane A; Singer, Florian; Möller, Alexander; Rohrbach, Marianne; Kohler, Malcolm (2019). Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome. Respiration, 97(4):284-291.

Mazzone, Luca; Moehrlen, Ueli; Casanova, Barbara; Ryf, Samira; Ochsenbein-Kölble, Nicole; Zimmermann, Roland; Kraehenmann, Franziska; Meuli, Martin (2019). Open Spina Bifida: Why Not Fetal Surgery? Fetal Diagnosis and Therapy, 45(6):430-434.

Räsänen, Pekka; Laurillard, Diana; von Aster, Michael; Käser, Tanja (2019). Perspectives to Technology-Enhanced Learning and Teaching in Mathematical Learning Difficulties. In: Fritz, Annemarie; Haase, Vitor Geraldi; Räsänen, Pekka. International Handbook of Mathematical Learning Difficulties. Springer: Springer, 733-754.

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Niktoreh, Naghmeh; Lerius, Beate; Zimmermann, Martin; Gruhn, Bernd; Escherich, Gabriele; Bourquin, Jean-Pierre; Dworzak, Michael; Sramkova, Lucie; Rossig, Claudia; Creutzig, Ursula; Reinhardt, Dirk; Rasche, Mareike (2019). Gemtuzumab ozogamicin in children with relapsed or refractory acute myeloid leukemia: a report by Berlin-Frankfurt-Münster study group. Haematologica, 104(1):120-127.

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De Smedt, Renate; Peirs, Sofie; Morscio, Julie; et al; Jenni, Silvia; Tsai, Yi-Chien (2019). Pre-clinical evaluation of second generation PIM inhibitors for the treatment of T-cell acute lymphoblastic leukemia and lymphoma. Haematologica, 104(1):e17-e20.

Weber, Roland W; Stiasny, Brian; Ruecker, Beate; Fasnacht, Margrit; Cavigelli-Brunner, Anna; Valsangiacomo Büchel, Emanuela R (2019). Prenatal Diagnosis of Single Ventricle Physiology Impacts on Cardiac Morbidity and Mortality. Pediatric Cardiology, 40(1):61-70.

Gatz, Susanne A; Aladowicz, Ewa; Casanova, Michela; Chisholm, Julia C; Kearns, Pamela R; Fulda, Simone; Geoerger, Birgit; Schäfer, Beat W; Shipley, Janet M (2019). A Perspective on Polo-Like Kinase-1 Inhibition for the Treatment of Rhabdomyosarcomas. Frontiers in Oncology, 9:1271.

Christmann, Martin. Advantages and pit-falls of current diagnostic modalities for coronary anatomy and function in paediatric cardiology. 2019, University of Zurich, Faculty of Medicine.

Rahman, Shamima; Baumgartner, Matthias R (2019). B Vitamins: Small molecules, big effects. Journal of Inherited Metabolic Disease, 42(4):579-580.

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Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T; Summar, Marshall L; Chapman, Kimberly A; Lund, Allan M; Rizopoulos, Dimitris; Kölker, Stefan; Williams, Monique; Hörster, F; Jelsig, A.M; de Lonlay, P; Wijburg, F A; Bosch, A; Freisinger, P; Posset, R; Augoustides-Savvopoulou, P; Avram, P; Deleanu, C; Baumgartner, M R; Häberle, J; Blasco-Alonso, J; Burlina, A.B; Rubert, L; Cazorla, A Garcia; Saladelafont, E Cortes I; Dionisi-Vici, C; Martinelli, D; Dobbelaere, D; et al (2019). Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Molecular Genetics and Metabolism, 126(4):397-405.

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Häberle, Johannes; Thöny, Beat (2019). Editorial. Journal of Inherited Metabolic Disease, 42(6):1041-1043.

Schreck, Leonie Daria. Establishment of a three-dimensional culture system as drug screening platform to tailor personalized therapies to rhabdomyosarcoma patients. 2019, University of Zurich, Faculty of Medicine.

Molema, Femke; Gleich, Florian; Burgard, Peter; et al; Baumgartner, M R (2019). Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry. Journal of Inherited Metabolic Disease, 42(6):1162-1175.

Häni, Chloé; Vonbach, Priska; Fonzo-Christe, Caroline; Russmann, Stefan; Cannizzaro, Vincenzo; Niedrig, David F (2019). Evaluation of incompatible coadministration of continuous intravenous infusions in a pediatric/neonatal intensive care unit. The journal of pediatric pharmacology and therapeutics, 24(6):479-488.

Mezzatesta, Caterina; Bornhauser, Beat C (2019). Exploiting Necroptosis for Therapy of Acute Lymphoblastic Leukemia. Frontiers in Cell and Developmental Biology, 7:40.

Ballout, Rami A; Al Alam, Chadi; Bonnen, Penelope E; Huemer, Martina; El-Hattab, Ayman W; Shbarou, Rolla (2019). FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. Frontiers in Genetics, 10:39.

Lito, Silvin; Burda, Patricie; Baumgartner, Matthias; Sloan-Béna, Frédérique; Táncos, Zsuzsanna; Kobolák, Julianna; Dinnyés, András; Krause, Karl-Heinz; Marteyn, Antoine (2019). Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease. Stem Cell Research, 41:101604.

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Mathis, Tamara. Glykogenose Typ 1: Die Auswirkung des Enzymdefektes auf Funktion und Regulation des Metabolismus - eine integrative Analyse mittels Metabolomik. 2019, University of Zurich, Faculty of Medicine.

Meda Spaccamela, Virginia; Valencia, Rocio G; Pastukhov, Oleksandr; Duppenthaler, Andrea; Dettmer, Matthias S; Erb, Juliane; Steiner, Urs C; Hillinger, Sven; Speckmann, Carsten; Ehl, Stephan; Reichenbach, Janine; Siler, Ulrich (2019). High Levels of IL-18 and IFN-γ in Chronically Inflamed Tissue in Chronic Granulomatous Disease. Frontiers in Immunology, 10:2236.

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Buerger, Corinna; Garbade, Sven F; Dietrich Alber, Fabienne; Waisbren, Susan E; McCarter, Robert; Kölker, Stefan; Burgard, Peter; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; Berry, Susan A; Coughlin, Curtis; Cederbaum, Stephen; Diaz, George A; Feigenbaum, Annette; Gallagher, Renata C; Harding, Cary O; Hoffmann, Georg; Kerr, Douglas S; Lee, Brendan; Le Mons, Cynthia; Lichter‐Konecki, Uta; McCandless, Shawn E; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Seashore, Margretta R; Stricker, Tamar; Summar, Marshall L; Tuchman, Mendel; et al, ? (2019). Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. Journal of Inherited Metabolic Disease, 42(2):243-253.

Petit, Gaetan. Local sleep-like events during wakefulness and longterm space travel. 2019, ETH Zurich.

Petit, Gaetan; Cebolla, Ana Maria; Fattinger, Sara; Petieau, Mathieu; Summerer, Leopold; Cheron, Guy; Huber, Reto (2019). Local sleep-like events during wakefulness and their relationship to decreased alertness in astronauts on ISS. npj Microgravity, 5:10.

Ghraichy, Marie; Galson, Jacob D; Kovaltsuk, Aleksandr; von Niederhäusern, Valentin; Pachlopnik Schmid, Jana; Miho, Enkelejda; Kelly, Dominic F; Deane, Charlotte M; Trück, Johannes (2019). Maturation of naïve and antigen-experienced B-cell receptor repertoires with age. bioRxiv n/a, University of Zurich.

Allemann, Aurélie; Kraemer, Julia G; Korten, Insa; Ramsey, Kathryn; Casaulta, Carmen; SCILD Study Group; Wüthrich, Daniel; Ramette, Alban; Endimiani, Andrea; Latzin, Philipp; Hilty, Markus (2019). Nasal Resistome Development in Infants With Cystic Fibrosis in the First Year of Life. Frontiers in Microbiology, 10:212.

Keller, Rebecca. Newborn screening for homocystinurias : recent recommendations versus current practice. 2019, University of Zurich, Faculty of Medicine.

Matic, Jana; Zeltner, Nina A; Häberle, Johannes (2019). Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study. JIMD Reports, 43:1-6.

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Bundy, J J; Chick, J F; Jiao, A; Cline, M R; Srinivasa, R N; Khayat, M; Gnannt, R; Johnson, E J; Gemmete, J J; Monroe, E J; Srinivasa, R N (2019). Percutaneous fluoroscopically-guided transcervical retrograde access facilitates successful thoracic duct embolization after failed antegrade transabdominal access. Lymphology, 52(2):52-60.

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Smith, Neil; Longo, Nicola; Levert, Keith; Hyland, Keith; Blau, Nenad (2019). Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Molecular Genetics and Metabolism, 126:406-412.

Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco‐Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; Cerone, Roberto; Chabrol, Brigitte; Chapman, Kimberly A; Couce, Maria Luz; Crushell, Ellen; Dalmau Serra, Jaime; Diogo, Luisa; Ficicioglu, Can; García Jimenez, Maria Concepcion; García Silva, Maria Teresa; et al, ? (2019). Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Journal of Inherited Metabolic Disease, 42(2):333-352.

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Krombach, Julia; Hennel, Roman; Brix, Nikko; Orth, Michael; Schoetz, Ulrike; Ernst, Anne; Schuster, Jessica; Zuchtriegel, Gabriele; Reichel, Christoph A; Bierschenk, Susanne; Sperandio, Markus; Vogl, Thomas; Unkel, Steffen; Belka, Claus; Lauber, Kirsten (2019). Priming anti-tumor immunity by radiotherapy: Dying tumor cell-derived DAMPs trigger endothelial cell activation and recruitment of myeloid cells. OncoImmunology, 8:e1523097.

Gossweiler, Emanuel. Recurrent inflammatory disease caused by a heterozygous mutation in CD48. 2019, University of Zurich, Faculty of Medicine.

Urdinez, Joaquin. Relevant MicroRNAs in Chondrosarcoma Progression. 2019, University of Zurich, Faculty of Medicine.

Häberle, Johannes; Rüfenacht, Véronique (2019). Response to Baertling et al. Genetics in Medicine:Epub ahead of print.

Burkhardt, Barbara Elisabeth Ursula; Kellenberger, Christian Johannes; Franzoso, Francesca Daniela; Geiger, Julia; Oxenius, Angela; Valsangiacomo Büchel, Emanuela R (2019). Right and Left Ventricular Strain Patterns After the Atrial Switch Operation for D-Transposition of the Great Arteries-A Magnetic Resonance Feature Tracking Study. Frontiers in cardiovascular medicine, 6:39.

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Pfeifer, Mischa Dimitri. Signal processing in functional near-infrared spectroscopy (fNIRS) : methodological differences lead to different statistical results. 2019, University of Zurich, Faculty of Medicine.

Callegari, Alessia; Christmann, Martin; Albisetti, Manuela; Kretschmar, Oliver; Quandt, Daniel (2019). Single Ventricle Physiology Patients and Coagulation Abnormalities: Is There a Relationship With Hemodynamic Data and Postoperative Course? A Pilot Study. Clinical and Applied Thrombosis/Hemostasis, 25:1-8.

Veit, Lara; Allegri Machado, Gabriella; Bürer, Céline; Speer, Oliver; Häberle, Johannes (2019). Sitosterolemia—10 years observation in two sisters. JIMD Reports, 48(1):4-10.

Kovaltsuk, Aleksandr; Raybould, Matthew I J; Wong, Wing Ki; Marks, Claire; Kelm, Sebastian; Snowden, James; Trück, Johannes; Deane, Charlotte M (2019). Structural Diversity of B-Cell Receptor Repertoires along the B-cell Differentiation Axis in Humans and Mice. bioRxiv n/a, University of Zurich.

Bruns, Dominique; Merk, Daniel; Santhana Kumar, Karthiga; Baumgartner, Martin; Schneider, Gisbert (2019). Synthetic Activators of Cell Migration Designed by Constructive Machine Learning. ChemistryOpen, 8(10):1303-1308.

Ackermann, Sarah Beatrice. Transcatheter atrial septal defect closure in children with and without fluorscopy : a comparison. 2019, University of Zurich, Faculty of Medicine.

Wongkittichote, Parith; Cunningham, Gary; Summar, Marshall L; Pumbo, Elena; Forny, Patrick; Baumgartner, Matthias R; Chapman, Kimberly A (2019). Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. Molecular Genetics and Metabolism, 128(4):444-451.

Froese, D Sean; Fowler, Brian; Baumgartner, Matthias R (2019). Vitamin B12, folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation. Journal of Inherited Metabolic Disease, 42(4):673-685.

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Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; et al; Steindl, Katharina; Joset, Pascal; Ramantani, Georgia (2018). Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics, 103(6):948-967.

Schäfer, Beat W (2018). Duxbling Stem Cells Meet Tumorigenesis. Cell Stem Cell, 23(6):773-774.

Häberle, Johannes; Chakrapani, Anupam; Ah Mew, Nicholas; Longo, Nicola (2018). Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet Journal of Rare Diseases, 13(1):219.

van Karnebeek, Clara D M; Sayson, Bryan; Lee, Jessica J Y; Tseng, Laura A; Blau, Nenad; Horvath, Gabriella A; Ferreira, Carlos R (2018). Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions. Frontiers in Neurology, 9:1016.

van Hedel, Hubertus J A; et al; Graser, Judith; Chua, Karen; Zutter, Daniel; Schweinfurther, Raoul; Möller, J Carsten; Paredes, Liliana P; Esquenazi, Alberto; Berweck, Steffen; Schroeder, Sebastian; Warken, Birgit; Chan, Anne; Devers, Amber; Petioky, Jakub; Paik, Nam-Jong; ARTIC network (2018). Advanced Robotic Therapy Integrated Centers (ARTIC): an international collaboration facilitating the application of rehabilitation technologies. Journal of Neuroengineering and Rehabilitation (JNER), 15:30.

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Bonhoeffer, Jessica; Jenni, Oskar (2018). Das frühkindliche Spielverhalten – ein Spiegel der kognitiven Entwicklung. Pädiatrie up2date, 13(04):303-321.

Ringer, Simone K; Clausen, N G; Spielmann, N; Ohlerth, Stefanie; Schwarz, A; Weiss, M (2018). Effects of moderate and severe arterial hypotension on intracerebral perfusion and brain tissue oxygenation in piglets. British Journal of Anaesthesia, 121(6):1308-1315.

Lerch, Christian; Shroff, Rukshana; Wan, Mandy; et al; Laube, Guido (2018). Effects of nutritional vitamin D supplementation on markers of bone and mineral metabolism in children with chronic kidney disease. Nephrology, Dialysis, Transplantation, 33(12):2208-2217.

Henningsson, Markus; Zahr, Riad Abou; Dyer, Adrian; Greil, Gerald F; Burkhardt, Barbara E; Tandon, Animesh; Hussain, Tarique (2018). Feasibility of 3D black-blood variable refocusing angle fast spin echo cardiovascular magnetic resonance for visualization of the whole heart and great vessels in congenital heart disease. Journal of Cardiovascular Magnetic Resonance, 20(1):76.

Kuster, Sabine; Stampf, Susanne; Gerber, Bernhard; Baettig, Veronika; Weisser, Maja; Gerull, Sabine; Medinger, Michael; Passweg, Jakob; Schanz, Urs; Garzoni, Christian; Berger, Christoph; Chalandon, Yves; Mueller, Nicolas J; van Delden, Christian; Neofytos, Dionysios; Khanna, Nina; Swiss Transplant Cohort Study (2018). Incidence and outcome of invasive fungal diseases after allogeneic hematopoietic stem cell transplantation: A Swiss transplant cohort study. Transplant Infectious Disease, 20(6):e12981.

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Tann, Cally J; Webb, Emily L; Lassman, Rachel; Ssekyewa, Julius; Sewegaba, Margaret; Musoke, Margaret; Burgoine, Kathy; Hagmann, Cornelia Franziska; Deane-Bowers, Eleanor; Norman, Kerstin; Milln, Jack; Kurinczuk, Jennifer J; Elliott, Alison M; Martinez-Biarge, Miriam; Nakakeeto, Margaret; Robertson, Nicola J; Cowan, Frances M (2018). Early Childhood Outcomes After Neonatal Encephalopathy in Uganda: A Cohort Study. EClinicalMedicine, 6:26-35.

Balzer, Julia; Marsico, Petra; Mitteregger, Elena; van der Linden, Marietta L; Mercer, Thomas H; van Hedel, Hubertus J A (2018). Influence of trunk control and lower extremity impairments on gait capacity in children with cerebral palsy. Disability and Rehabilitation, 40(26):3164-3170.

Coluccia, Daniel; Frank, Nicole; Werner, Beat (2018). MRI-Guided Focused Ultrasound Therapy for Glioblastoma. In: Iv, Michael; Wintermark, Max; Massoud, Tarik. Glioblastoma : State-of-the-Art Clinical Neuroimaging. NY, USA: Nova Science Publishers, 215-231.

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Kucian, Karin; McCaskey, Ursina; von Aster, Michael; O'Gorman Tuura, Ruth (2018). Development of a Possible General Magnitude System for Number and Space. Frontiers in Psychology, 9:2221.

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Vernazza, Pietro; Tschudin Sutter, Sarah; Kronenberg, Andreas; Hauser, Christoph; Huttner, Benedikt; Manuel, Oriol; Kuster, Stefan; Scheidegger, Claude; Berger, Christoph; Müller, Nicolas (2018). Entwicklung infektiologischer Guidelines – ein kontinuierlicher Prozess. Swiss Medical Forum, 18(46):963-965.

Schuler, Jasmin. Executive Functions and Brain Volumes in Children with Congenital Heart Disease and Very Preterm Children. 2018, University of Zurich, Faculty of Arts.

Arhab, Amar; Messerli-Bürgy, Nadine; Kakebeeke, Tanja H; Lanzi, Stefano; Stülb, Kerstin; Zysset, Annina E; Leeger-Aschmann, Claudia S; Schmutz, Einat A; Meyer, Andrea H; Munsch, Simone; Kriemler, Susi; Jenni, Oskar G; Puder, Jardena J (2018). Childcare Correlates of Physical Activity, Sedentary Behavior, and Adiposity in Preschool Children: A Cross-Sectional Analysis of the SPLASHY Study. Journal of Environmental and Public Health, 2018:9157194.

Ismail, Hesham M; Krishnamoorthy, Navaneethakrishnan; Al-Dewik, Nader; Zayed, Hatem; Mohamed, Nura A; Giacomo, Valeria Di; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Kruger, Waren D; Ben-Omran, Tawfeg; Nasrallah, Gheyath K (2018). In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. Human Mutation, 40(2):230-240.

Lucchini, Giovanna; Marsh, Rebecca; Gilmour, Kimberly; Worth, Austen; Nademi, Zohreh; Rao, Anupama; Booth, Claire; Amrolia, Persis; Silva, Juliana; Chiesa, Robert; Wynn, Robert; Lehmberg, Kai; Astigarraga, Itziar; Güngör, Tayfun; Stary, Jan; Moshous, Despina; Ifversen, Marianne; Zinn, Daniel; Jordan, Michael; Kumar, Ashish; Yasumi, Takahiro; Veys, Paul; Rao, Kanchan (2018). Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis. Blood, 132(19):2088-2096.

Fowler, Anna; Galson, Jacob D; Trück, Johannes; Kelly, Dominic F; Lunter, Gerton (2018). Inferring B cell specificity for vaccines using a mixture model. bioRxiv na, University of Zurich.

Meyer Sauteur, Patrick M; de Bruijn, Adrianus C J M; Graça, Catarina; Tio-Gillen, Anne P; Estevão, Silvia C; Hoogenboezem, Theo; Hendriks, Rudi W; Berger, Christoph; Jacobs, Bart C; van Rossum, Annemarie M C; Huizinga, Ruth; Unger, Wendy W J (2018). Antibodies to protein but not glycolipid structures are important for host defense against. Infection and Immunity, 87(2):e00663-18.

Kritikos, A; Neofytos, D; Khanna, N; Schreiber, P W; Boggian, K; Bille, J; Schrenzel, J; Mühlethaler, K; Zbinden, R; Bruderer, T; Goldenberger, D; Pfyffer, G; Conen, A; Van Delden, C; Zimmerli, S; Sanglard, D; Bachmann, D; Marchetti, O; Lamoth, F; Fungal Infection Network of Switzerland (FUNGINOS) (2018). Accuracy of Sensititre YeastOne echinocandins epidemiological cut-off values for identification of FKS mutant Candida albicans and Candida glabrata: a ten year national survey of the Fungal Infection Network of Switzerland (FUNGINOS). Clinical Microbiology and Infection, 24(11):1214.e1-1214.e4.

Schoch, Sarah F; Riedner, Brady A; Deoni, Sean C; Huber, Reto; LeBourgeois, Monique K; Kurth, Salome (2018). Across-night dynamics in traveling sleep slow waves throughout childhood. Sleep, 41(11):zsy165.

Lögers, Anja; Rosser, Barbara; Seifert, Burkhardt; Kretschmar, Oliver; Hübler, Michael; Prêtre, René; Ben Mime, Lotfi (2018). Do surgical modifications at the annular level during the Ross procedure negatively influence the structural and functional durability of the autograft? Interactive Cardiovascular and Thoracic Surgery, 27(5):642-649.

Mueller, Goetz C; Michel-Behnke, Ina; Knirsch, Walter; Haas, Nikolaus A; Abdul-Khaliq, Hashim; Gitter, Roland; Dittrich, Sven; Dähnert, Ingo; Uhlemann, Frank; Schubert, Stephan; Tarusinov, Gleb; Happel, Christoph; Bertram, Harald; Sieverding, Ludger; Eicken, Andreas; Kozlik-Feldmann, Rainer; Weil, Jochen (2018). Feasibility, safety and diagnostic impact of endomyocardial biopsies for the diagnosis of myocardial disease in children and adolescents. EuroIntervention, 14(10):1089-1095.

Callaghan, Fraser Maurice; Grieve, Stuart Michael (2018). Normal patterns of thoracic aortic wall shear stress measured using 4D-flow MRI in a large population. American Journal of Physiology - Heart and Circulatory Physiology, 315(5):H1174-H1181.

Gerull, Roland; Brauer, Viviane; Bassler, Dirk; Laubscher, Bernard; Pfister, Riccardo E; Nelle, Mathias; Müller, Beatrice; Roth-Kleiner, Matthias; Gerth-Kahlert, Christina; Adams, Mark; Swiss Neonatal Network; Follow-up Group (2018). Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants-a Population Based Analysis. Pediatric Research, 84(5):632-638.

Barra, Steffen; Bessler, Cornelia; Landolt, Markus A; Aebi, Marcel (2018). Testing the validity of criminal risk assessment tools in sexually abusive youth. Psychological Assessment, 30(11):1430-1443.

Schuler, Anna-Lisa; Bartha-Doering, Lisa; Jakab, András; Schwartz, Ernst; Seidl, Rainer; Kienast, Patric; Lackner, Sonja; Langs, Georg; Prayer, Daniela; Kasprian, Gregor (2018). Tracing the structural origins of atypical language representation: consequences of prenatal mirror-imaged brain asymmetries in a dizygotic twin couple. Brain Structure & Function, 223(8):3757-3767.

Zastrow, Diane B; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A; Lager, Angela M; Liu, Jixia; Mangels, Rachel; Dwight, Selina S; Wright, Matt W; Dobrowolski, Steven F; Eilbeck, Karen; Enns, Gregory M; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D; Craigen, William J; Mao, Rong (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation, 39(11):1569-1580.

Nyilas, Sylvia; Bigler, Anja; Yammine, Sophie; Kieninger, Elisabeth; Rochat, Isabelle; Ramsey, Kathryn; Casaulta, Carmen; Moeller, Alexander; Latzin, Philipp; Singer, Florian (2018). Alternate gas washout indices: Assessment of ventilation inhomogeneity in mild to moderate pediatric cystic fibrosis lung disease. Pediatric Pulmonology, 53(11):1485-1491.

Theiler, Martin; Schwieger-Briel, Agnes; Cont, Micòl; Relly, Christa; Meyer Sauteur, Patrick M (2018). Bilateral palatine ulcers in a neonate: Bednar's aphthae. Archives of Disease in Childhood, 103(11):1020.

Tamò, Raphaël; Rohrbach, Marianne; Baumgartner, Matthias; Beuschlein, Felix; Nowak, Albina (2018). Die Grundlagen der lysosomalen Speicherkrankheiten. Therapeutische Umschau. Revue thérapeutique, 75(4):199-207.

Berger, Christoph; Deml, Michael; Mettraux, Valerie; Huber, Benedikt; Krüerke, Daniel; Wingeier, Bernhard; Gallmann, Caesar; Kliemb, Paulina; Fraub, Eleonora; Sonderegger, Joanna; Zeller, Andreas; Mäusezahl, Mirjam; Suggs, Suzanne; Jafflin, Kristen; Merten, Sonja; Burton-Jeangros, Claudine; Tarr, Philip. Impfskepsis in der Schweiz –ein nationales Forschungsprogramm. In: Praxis-Depesche, November 2018, p.42-44.

Zhang, Lin. Motion correction and IVIM fitting for in utero fetal diffusion-weighted magnetic resonance images. 2018, ETHZ.

Beckmann, Sonja; Denhaerynck, Kris; Stampf, Susanne; Saigi-Morgui, Nuria; Binet, Isabelle; Koller, Michael; Boely, Elsa; De Geest, Sabina; Psychosocial Interest Group; Swiss Transplant Cohort Study (2018). New-onset obesity after liver transplantation-outcomes and risk factors: the Swiss Transplant Cohort Study. Transplant International, 31(11):1254-1267.

Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; Bento, Celeste; Bouva, Marelle J; Canatan, Duran; Charlton, Matthew; Coppinger, Cathy; Daniel, Yvonne; de Montalembert, Marianne; Ducoroy, Patrick; Dulin, Elena; Fingerhut, Ralph; Frömmel, Claudia; García-Morin, Marina; Gulbis, Béatrice; Holtkamp, Ute; Inusa, Baba; James, John; Kleanthous, Marina; Klein, Jeannette; Kunz, Joachim B; Langabeer, Lisa; Lapouméroulie, Claudine; Marcao, Ana; Marín Soria, José L; Schmugge, M; et al (2018). Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. British Journal of Haematology, 183(4):648-660.

Maillard, Louis; Ramantani, Georgia (2018). SEEG in polymicrogyria: When and how? In: Lhatoo, Samden D; Kahane, Philippe; Lüders, Hans O. Invasive Studies of the Human Epileptic Brain: Principles and Practice. Oxford: Oxford University Press, 246-262.

Pluchinotta, Francesca R; Piekarski, Breanna L; Milani, Valentina; Kretschmar, Oliver; Burch, Phillip T; Hakami, Lale; Meyer, David B; Jacques, Frederic; Ghez, Olivier; Trezzi, Matteo; Carotti, Adriano; Qureshi, Shakeel A; Michel-Behnke, Ina; Hammel, James M; Chai, Paul; McMullan, David; Mettler, Bret; Ferrer, Queralt; Carminati, Mario; Emani, Sitaram M (2018). Surgical Atrioventricular Valve Replacement With Melody Valve in Infants and Children. Circulation. Cardiovascular Interventions, 11(11):e007145.

Meyer Sauteur, Patrick M; Unger, Wendy W J; van Rossum, Annemarie M C; Berger, Christoph (2018). The Art and Science of Diagnosing Mycoplasma pneumoniae Infection. The Pediatric Infectious Disease Journal, 37(11):1192-1195.

Summerauer, Andrea Maria; Colombo, Lorenzo; Ogwang, Rodney; Berger, Christoph; Fehr, Jan; Bürgler, Simone (2018). High purity high yield tandem B and T helper cell isolation for qRT-PCR analysis suitable for basically equipped laboratories. Malaria Journal, 17:395.

Seiler, Michelle; Massaro, Sandra Letizia; Staubli, Georg; Schiestl, Clemens (2018). Tongue lacerations in children: to suture or not? Swiss Medical Weekly, 148:w14683.

Williams, Monique; Burlina, Alberto; Rubert, Laura; Polo, Giulia; Ruijter, George J G; van den Born, Myrthe; Rüfenacht, Véronique; Haskins, Nantaporn; van Zutven, Laura J C M; Tuchman, Mendel; Saris, Jasper J; Häberle, Johannes; Caldovic, Ljubica (2018). N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. Scientific Reports, 8(1):15436.

Zekušić, Marija; Škaričić, Ana; Fumić, Ksenija; Rogić, Dunja; Žigman, Tamara; Petković Ramadža, Danijela; Vukojević, Nenad; Rüfenacht, Véronique; Uroić, Valentina; Barić, Ivo (2018). Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the gene: a case report. Biochemia Medica, 28(3):030801.

Steinmann, Karin E; Lehnick, Dirk; Buettcher, Michael; Schwendener-Scholl, Katharina; Daetwyler, Karin; Fontana, Matteo; Morgillo, Davide; Ganassi, Katja; O'Neill, Kathrin; Genet, Petra; Burth, Susanne; Savoia, Patrizia; Terheggen, Ulrich; Berger, Christoph; Stocker, Martin (2018). Impact of Empowering Leadership on Antimicrobial Stewardship: A Single Center Study in a Neonatal and Pediatric Intensive Care Unit and a Literature Review. Frontiers in Pediatrics, 6:294.

Ellenbogen, Jonathan R; Tuura, Ruth O'Gorman; Ashkan, Keyoumars (2018). Localisation of DBS Electrodes Post-Implantation, to CT or MRI? Which Is the Best Option? Stereotactic and functional neurosurgery, 96:347-348.

Stevens, Michael Charles; Callaghan, Fraser M; Forrest, Paul; Bannon, Paul G; Grieve, Stuart M (2018). A computational framework for adjusting flow during peripheral extracorporeal membrane oxygenation to reduce differential hypoxia. Journal of Biomechanics, 79:39-44.

O'Gorman Tuura, Ruth; Warnock, Geoff; Ametamey, Simon; Treyer, Valerie; Noeske, Ralph; Buck, Alfred; Sommerauer, Michael (2018). Imaging glutamate redistribution after acute N-acetylcysteine administration: A simultaneous PET/MR study. NeuroImage, 184:826-833.

Nyilas, Sylvia; Bauman, Grzegorz; Pusterla, Orso; Sommer, Gregor; Singer, Florian; Stranzinger, Enno; Heyer, Christoph; Ramsey, Kathryn; Schlegtendal, Anne; Benzrath, Stefanie; Casaulta, Carmen; Goutaki, Myrofora; Kuehni, Claudia E; Bieri, Oliver; Koerner-Rettberg, Cordula; Latzin, Philipp (2018). Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry. Annals of the American Thoracic Society, 15(12):1434-1442.

Wehrle, Flavia M; Michels, Lars; Guggenberger, Roman; Huber, Reto; Latal, Beatrice; O'Gorman, Ruth L; Hagmann, Cornelia F (2018). Altered resting-state functional connectivity in children and adolescents born very preterm. NeuroImage: Clinical, 20:1148-1156.

Gnannt, Ralph; Weibel, Lisa; Pfammatter, Thomas (2018). Die arterio-venöse Malformation. Swiss Medical Forum, 18(40):821-824.

von Aster, Michael; Lipka, Marlies (2018). Blitzlicht : Eindrücke von der Fachtagung „Kinder mit schulischen Entwicklungsstörungen verstehen und unterstützen“ am 8. und 9. Juni 2018 in Berlin. Lernen und Lernstörungen, 7(4):266-267.

Kucian, Karin (2018). Diagnostik von schulbezogenen Ängsten. Lernen und Lernstörungen, 7(4):241-246.

Floriou-Servou, Amalia; von Ziegler, Lukas; Stalder, Luzia; Sturman, Oliver; Privitera, Mattia; Rassi, Anahita; Cremonesi, Alessio; Thöny, Beat; Bohacek, Johannes (2018). Distinct Proteomic, Transcriptomic, and Epigenetic Stress Responses in Dorsal and Ventral Hippocampus. Biological Psychiatry, 84(7):531-541.

Lang-Muritano, Mariarosaria; Sproll, Patrick; Wyss, Sascha; Kolly, Anne; Hürlimann, Renate; Konrad, Daniel; Biason-Lauber, Anna (2018). Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). Journal of Clinical Endocrinology & Metabolism, 103(10):3748-3756.

Kucian, Karin (2018). Eindrucksvolle Formbarkeit: Das Gehirn von erwachsenen Analphabeten verändert sich tiefgreifend durch Lesenlernen. Lernen und Lernstörungen, 7(4):265.

Maillard, Louis; Ramantani, Georgia (2018). Epilepsy surgery for polymicrogyria: a challenge to be undertaken. Epileptic Disorders, 20(5):319-338.

Di Salvo, Giovanni; Miller, Owen; Babu Narayan, Sonya; Li, Wei; Budts, Werner; Valsangiacomo Büchel, Emanuela R; Frigiola, Alessandra; van den Bosch, Annemien E; Bonello, Beatrice; Mertens, Luc; Hussain, Tarique; Parish, Victoria; Habib, Gilbert; Edvardsen, Thor; Geva, Tal; Baumgartner, Helmut; Gatzoulis, Michael A (2018). Imaging the adult with congenital heart disease: a multimodality imaging approach-position paper from the EACVI. European Heart Journal. Cardiovascular Imaging, 19(10):1077-1098.

Bijarnia-Mahay, Sunita; Häberle, Johannes; Jalan, Anil B; Puri, Ratna Dua; Kohli, Sudha; Kudalkar, Ketki; Rüfenacht, Véronique; Gupta, Deepti; Maurya, Deepshikha; Verma, Jyotsna; Shigematsu, Yosuke; Yamaguchi, Seiji; Saxena, Renu; Verma, Ishwar C (2018). Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet Journal of Rare Diseases, 13:174.

Lamberink, Herm J; Geleijns, Karin; Otte, Willem M; Arzimanoglou, Alexis; Helen Cross, J; Korff, Christian M; Ramantani, Georgia; Braun, Kees P J (2018). Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery. Epileptic Disorders, 20(5):374-385.

Simonis, Alexander; Fux, Michaela; Nair, Gayathri; Mueller, Nicolas J; Haralambieva, Eugenia; Pabst, Thomas; Pachlopnik Schmid, Jana; Schmidt, Adrian; Schanz, Urs; Manz, Markus G; Müller, Antonia M S (2018). Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. Annals of Hematology, 97(10):1961-1973.

Guilcher, Katharina; Fournier, Nicolas; Schoepfer, Alain; Schibli, Susanne; Spalinger, Johannes; Braegger, Christian; Nydegger, Andreas; Swiss IBD Cohort Study Group (2018). Change of treatment modalities over the last 10 years in pediatric patients with inflammatory bowel disease in Switzerland. European Journal of Gastroenterology & Hepatology, 30(10):1159-1167.

Volk, Carina; Jaramillo, Valeria; Merki, Renato; O'Gorman Tuura, Ruth; Huber, Reto (2018). Diurnal changes in glutamate + glutamine levels of healthy young adults assessed by proton magnetic resonance spectroscopy. Human Brain Mapping, 39(10):3984-3992.

Hackenberg, Annette; Wagner, Matias; Pahnke, Jan; Zeitler, Petra; Boltshauser, Eugen (2018). Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia. Neuropediatrics, 49(5):356.

Kuhlen, Michaela; Bader, Peter; Sauer, Martin; Albert, Michael H; Gruhn, Bernd; Güngör, Tayfun; Kropshofer, Gabriele; Lang, Peter; Lawitschka, Anita; Metzler, Markus; Pentek, Falk; Rossig, Claudia; Schlegel, Paul G; Schrappe, Martin; Schrum, Johanna; Schulz, Ansgar; Schwinger, Wolfgang; von Stackelberg, Arend; Strahm, Brigitte; Suttorp, Meinolf; Luettichau, Irene Teichert-von; Wößmann, Wilhelm; Borkhardt, Arndt; Meisel, Roland; Poetschger, Ulrike; Glogova, Evgenia; Peters, Christina (2018). Low incidence of symptomatic osteonecrosis after allogeneic HSCT in children with high-risk or relapsed ALL - results of the ALL-SCT 2003 trial. British Journal of Haematology, 183(1):104-109.

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Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular Genetics and Metabolism, 125(1/2):73-78.

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Aurich-Schuler, Tabea; van Hedel, Hubertus; Labruyère, Rob (2018). Roboterunterstützte Lokomotionstherapie bei Kindern in der Neuroreha. Neuroreha, 10(03):119-126.

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Akeret, Kevin; Bellut, David; Huppertz, Hans-Jürgen; Ramantani, Georgia; König, Kristina; Serra, Carlo; Regli, Luca; Krayenbühl, Niklaus (2018). Ultrasonographic features of focal cortical dysplasia and their relevance for epilepsy surgery. Neurosurgical Focus, 45(3):E5.

Thomas, Jörg; Weiss, Markus; Cannizzaro, Vincenzo; Both, Christian Peter; Schmidt, Alexander Robert (2018). Work of breathing for cuffed and uncuffed pediatric endotracheal tubes in an in vitro lung model setting. Paediatric Anaesthesia, 28(9):780-787.

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Greutmann, Matthias; Valsangiacomo Büchel, Emanuela R; Jost, Christine Attenhofer (2018). Editorial commentary: The caveats of cardiac imaging in Ebstein anomaly. Trends in Cardiovascular Medicine, 28(6):410-411.

Toelle, Sandra P; Avetisyan, Tamara; Kuyumjyan, Nune; Sukhudyan, Biayna; Boltshauser, Eugen; Hackenberg, Annette (2018). Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity. Neuropediatrics, 49(4):262-268.

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Spartà, Giuseppina; Gaspert, Ariana; Neuhaus, Thomas J; Weitz, Marcus; Mohebbi, Nilufar; Odermatt, Urs; Zipfel, Peter F; Bergmann, Carsten; Laube, Guido F (2018). Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series. Clinical Kidney Journal, 11(4):479-490.

Fernández-Lainez, Cynthia; Ibarra-González, Isabel; Alcántara-Ortigoza, Miguel Ángel; Fernández-Hernández, Liliana; Enríquez-Flores, Sergio; González-Del Ángel, Ariadna; Blau, Nenad; Thöny, Beat; Guillén-López, Sara; Belmont-Martínez, Leticia; Ruiz-García, Matilde; Vela-Amieva, Marcela (2018). Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico. Brain & Development, 40(7):530-536.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Gemperle, Corinne; Fingerhut, Ralph; Häberle, Johannes (2018). Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Human Mutation, 39(8):1029-1050.

Hamilton, Eline M C; van der Lei, Hannemieke D W; Vermeulen, Gerre; Gerver, Jan A M; Lourenço, Charles M; Naidu, Sakkubai; Mierzewska, Hanna; Gemke, Reinoud J B J; de Vet, Henrica C W; Uitdehaag, Bernard M J; Lissenberg-Witte, Birgit I; VWM Research Group; van der Knaap, Marjo S; Boltshauser, Eugen (2018). Natural History of Vanishing White Matter. Annals of Neurology, 84(2):274-288.

Kakebeeke, Tanja H; Knaier, Elisa; Chaouch, Aziz; Caflisch, Jon; Rousson, Valentin; Largo, Remo H; Jenni, Oskar G (2018). Neuromotor development in children. Part 4: new norms from 3 to 18 years. Developmental Medicine and Child Neurology, 60(8):810-819.

Remacle, Noémie; Forny, Patrick; Cudré-Cung, Hong-Phuc; Gonzalez-Melo, Mary; do Vale-Pereira, Sónia; Henry, Hugues; Teav, Tony; Gallart-Ayala, Hector; Braissant, Olivier; Baumgartner, Matthias; Ballhausen, Diana (2018). New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. Molecular Genetics and Metabolism, 124(4):266-277.

Rost, Michael; Acheson, Elaine; Kühne, Thomas; Ansari, Marc; Pacurari, Nadia; Brazzola, Pierluigi; Niggli, Felix; Elger, Bernice S; Wangmo, Tenzin (2018). Palliative care in Swiss pediatric oncology settings: a retrospective analysis of medical records. Supportive Care in Cancer, 26(8):2707-2715.

Nellis, Marianne E; Karam, Oliver; Mauer, Elizabeth; Cushing, Melissa M; Davis, Peter J; Steiner, Marie E; Tucci, Marisa; Stanworth, Simon J; Spinella, Philip C; Doell, Carsten (2018). Platelet Transfusion Practices in Critically Ill Children. Critical Care Medicine, 46(8):1309-1317.

Vasileva, Mira; Haag, Ann-Christin; Landolt, Markus A; Petermann, Franz (2018). Posttraumatic Stress Disorder in Very Young Children: Diagnostic Agreement Between ICD-11 and DSM-5. Journal of Traumatic Stress, 31(4):529-539.

Boltshauser, Eugen (2018). Rhoton's Atlas of Head, Neck, and Brain. Neuropediatrics, 49(4):298.

Kahlert, Christian; Aebi-Popp, Karoline; Bernasconi, Enos; Martinez de Tejada, Begoña; Nadal, David; Paioni, Paolo; Rudin, Christoph; Staehelin, Cornelia; Wagner, Noémie; Vernazza, Pietro (2018). Is breastfeeding an equipoise option in effectively treated HIV-infected mothers in a high-income setting? Swiss Medical Weekly, 148:w14648.

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Repp, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; et al; Häberle, Johannes (2018). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases, 13:120.

Christmann, Martin; Wipf, Alexandra; Dave, Hitendu; Quandt, Daniel; Niesse, Oliver; Deisenberg, Markus; Hersberger, Martin; Kretschmar, Oliver; Knirsch, Walter (2018). Risk factor analysis for a complicated postoperative course after neonatal arterial switch operation: The role of troponin T. Congenital Heart Disease, 13(4):594-601.

Šestan, Marko; Marinović, Sonja; Kavazović, Inga; Cekinović, Đurđica; Wueest, Stephan; Turk Wensveen, Tamara; Brizić, Ilija; Jonjić, Stipan; Konrad, Daniel; Wensveen, Felix M; Polić, Bojan (2018). Virus-Induced Interferon-γ Causes Insulin Resistance in Skeletal Muscle and Derails Glycemic Control in Obesity. Immunity, 49(1):164-177.e6.

von Aster, Michael; Lipka, Marlies (2018). Zwischen Sternen und schwarzen Löchern: Im Universum der Therapien. Lernen und Lernstörungen, 7(3):131-132.

Kumar, Karthiga Santhana; Pillong, Max; Kunze, Jens; Burghardt, Isabel; Weller, Michael; Grotzer, Michael A; Schneider, Gisbert; Baumgartner, Martin (2018). Corrigendum: Computer-assisted quantification of motile and invasive capabilities of cancer cells. Scientific Reports, 8:46996.

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Ramantani, Georgia; Kadish, Navah Ester; Mayer, Hans; Anastasopoulos, Constantin; Wagner, Kathrin; Reuner, Gitta; Strobl, Karl; Schubert-Bast, Susanne; Wiegand, Gert; Brandt, Armin; Korinthenberg, Rudolf; Mader, Irina; van Velthoven, Vera; Zentner, Josef; Schulze-Bonhage, Andreas; Bast, Thomas (2018). Frontal Lobe Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom, Overall Cognitive and Adaptive Functioning. Neurosurgery, 83(1):93-103.

McCaskey, Ursina; Kühne, Yvonne (2018). IQ unterschätzt? Eine Interventionsstudie bei Kindern mit Rechenstörung. Lernen und Lernstörungen, 7(3):187.

Waisbren, Susan E; Cuthbertson, David; Burgard, Peter; Holbert, Amy; McCarter, Robert; Cederbaum, Stephen (2018). Biochemical markers and neuropsychological functioning in distal urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):657-667.

Quandt, Daniel. Cardiac catheter interventions in small children - new trends and clinical applications. 2018, University of Zurich, Faculty of Medicine.

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Stellacci, Emilia; Steindl, Katharina; Joset, Pascal; Mercurio, Laura; Anselmi, Massimiliano; Cecchetti, Serena; Gogoll, Laura; Zweier, Markus; Hackenberg, Annette; Bocchinfuso, Gianfranco; Stella, Lorenzo; Tartaglia, Marco; Rauch, Anita (2018). Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. Human Mutation, 39(7):959-964.

Anagnostopoulou, Pinelopi; Kranz, Nadja; Wolfensberger, Jeremias; Guidi, Marisa; Nyilas, Sylvia; Koerner-Rettberg, Cordula; Yammine, Sophie; Singer, Florian; Latzin, Philipp (2018). Comparison of different analysis algorithms to calculate multiple-breath washout outcomes. ERJ Open Research, 4(3):00021-2017.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; et al; Häberle, Johannes (2018). Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):743-744.

Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; et al; Baumgartner, Matthias R (2018). Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 41(4):741-742.

Ventzke, Ada; Feldkötter, Markus; Wei, Andrew; Becker, Jutta; Beck, Bodo B; Hoppe, Bernd (2018). Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III. Pediatric Nephrology, 33(7):1275-1276.

Kottke, Raimund; Weisstanner, Christian (2018). Die fetale Magnetresonanztomografie (MRT) in der Pränataldiagnostik. Gyne, 7/2018:30-35.

Cortina, Gerard; Best, Derek; Deisenberg, Markus; Chiletti, Roberto; Butt, Warwick (2018). Extracorporeal membrane oxygenation for neonatal collapse caused by enterovirus myocarditis. Archives of Disease in Childhood. Fetal and Neonatal Edition, 103(4):F370-F376.

Tobler, Micha; Caslavska, Jitka; Burda, Patricie; Thormann, Wolfgang (2018). High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation. Journal of Separation Science, 41(13):2808-2818.

Haasnoot, Anne-Mieke J W; Schilham, Marco W; Kamphuis, Sylvia; Hissink Muller, Petra C E; Heiligenhaus, Arnd; Foell, Dirk; Minden, Kirsten; Ophoff, Roel A; Radstake, Timothy R D J; Den Hollander, Anneke I; Reinards, Tjitske H C M; Hiddingh, Sanne; Schalij-Delfos, Nicoline E; Hoppenreijs, Esther P A H; van Rossum, Marion A J; Wouters, Carine; Saurenmann, Rotraud K; van den Berg, J Merlijn; Wulffraat, Nico M; ICON-JIA Study Group; Ten Cate, Rebecca; de Boer, Joke H; Pulit, Sara L; Kuiper, Jonas J W (2018). Identification of an Amino Acid Motif in HLA-DRβ1 That Distinguishes Uveitis in Patients With Juvenile Idiopathic Arthritis. Arthritis and Rheumatology, 70(7):1155-1165.

Schreglmann, Sebastian R; Bhatia, Kailash P; Hägele-Link, Stefan; Werner, Beat; Martin, Ernst; Kägi, Georg (2018). Letter to the Editor. Errors in the meta-analysis of outcomes and complications of MRgFUS. Neurosurgical Focus, 45(1):E15.

Luciani, Matteo; Albisetti, Manuela; Biss, Branislav; Bomgaars, Lisa; Brueckmann, Martina; Chalmers, Elizabeth; Gropper, Savion; Halton, Jacqueline M L; Harper, Ruth; Huang, Fenglei; Manastirski, Ivan; Mitchell, Lesley G; Tartakovsky, Igor; Wang, Bushi; Brandão, Leonardo R (2018). Phase 3, single-arm, multicenter study of dabigatran etexilate for secondary prevention of venous thromboembolism in children: Rationale and design. Research and Practice in Thrombosis and Haemostasis, 2(3):580-590.

Bergsträsser, Eva (2018). Pädiatrische Palliative Care: was ist bei Kindern anders als bei Erwachsenen? Therapeutische Umschau. Revue thérapeutique, 75(2):101-104.

Scherer, Tanja; Allegri, Gabriella; Sarkissian, Christineh N; Ying, Ming; Grisch-Chan, Hiu Man; Rassi, Anahita; Winn, Shelley R; Harding, Cary O; Martinez, Aurora; Thöny, Beat (2018). Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. Journal of Inherited Metabolic Disease, 41(4):709-718.

Parragi, Levente; Fournier, N; Zeitz, Jonas; Scharl, Michael; Greuter, Thomas; Schreiner, Philipp; Misselwitz, Benjamin; Safroneeva, Ekaterina; Schoepfer, A M; Vavricka, Stephan R; Rogler, Gerhard; Biedermann, Luc; Swiss IBD Cohort Study Group (2018). Colectomy rates in ulcerative colitis are low and decreasing: 10-year-follow-up data from the Swiss IBD cohort study. Journal of Crohn's & Colitis, 12(7):811-818.

Santhana Kumar, Karthiga; Neve, Anuja; Guerreiro Stucklin, Ana S; Kuzan-Fischer, Claudia M; Rushing, Elisabeth J; Taylor, Michael D; Tripolitsioti, Dimitra; Behrmann, Lena; Kirschenbaum, Daniel; Grotzer, Michael A; Baumgartner, Martin (2018). TGF-β Determines the Pro-migratory Potential of bFGF Signaling in Medulloblastoma. Cell Reports, 23(13):3798-3812.e8.

Neve, Anuja; Santhana Kumar, Karthiga; Tripolitsioti, Dimitra; Grotzer, Michael A; Baumgartner, Martin (2018). Publisher Correction: Investigation of brain tissue infiltration by medulloblastoma cells in an ex vivo model. Scientific Reports, 8(1):9718.

Froese, D Sean; Kopec, Jolanta; Rembeza, Elzbieta; Bezerra, Gustavo Arruda; Oberholzer, Anselm Erich; Suormala, Terttu; Lutz, Seraina; Chalk, Rod; Borkowska, Oktawia; Baumgartner, Matthias R; Yue, Wyatt W (2018). Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition. Nature Communications, 9:2261.

Nademi, Zohreh; Wynn, Robert F; Slatter, Mary; Hughes, Stephen M; Bonney, Denise; Qasim, Waseem; Latour, Sylvain; Trück, Johannes; Patel, Smita; Abinun, Mario; Flood, Terry; Hambleton, Sophie; Cant, Andrew J; Gennery, Andrew R; Arkwright, Peter D (2018). Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency. Bone Marrow Transplantation, 54:130-133.

Burg, Dominic; Schofield, James P R; Brandsma, Joost; et al; Singer, Florian; U-BIOPRED Study Group (2018). Large-Scale Label-Free Quantitative Mapping of the Sputum Proteome. Journal of Proteome Research, 17(6):2072-2091.

Wang, Ruifang; Shen, Nan; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Sun, Yu; Fan, Yanjie; Wang, Lili; Wang, Yu; Gong, Zhuwen; Liu, Huili; Wang, Jianguo; Yan, Hui; Blau, Nenad; Gu, Xuefan; Yu, Yongguo (2018). Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clinica Chimica Acta, 481:132-138.

Tschirren, Lea; Bauer, Susanne; Hanser, Chiara; Marsico, Petra; Sellers, Diane; van Hedel, Hubertus J A (2018). The Eating and Drinking Ability Classification System: concurrent validity and reliability in children with cerebral palsy. Developmental Medicine and Child Neurology, 60(6):611-617.

Boltshauser, Eugen; Toelle, Sandra; Scheer, Ianina; Hackenberg, Annette (2018). Torcular Pseudomass. Neuropediatrics, 49(03):225-226.

Alocci, Davide; Ghraichy, Marie; Barletta, Elena; Gastaldello, Alessandra; Mariethoz, Julien; Lisacek, Frederique (2018). Understanding the glycome: an interactive view of glycosylation from glycocompositions to glycoepitopes. Glycobiology, 28(6):349-362.

Herzog, Denise; Fournier, Nicolas; Buehr, Patrick; Rueger, Vanessa; Koller, Rebekka; Heyland, Klaas; Nydegger, Andreas; Spalinger, Johannes; Schibli, Susanne; Petit, Laetitia-Marie; Braegger, Christian P; Swiss IBD Cohort Study Group (2018). Age at disease onset of inflammatory bowel disease is associated with later extraintestinal manifestations and complications. European Journal of Gastroenterology & Hepatology, 30(6):598-607.

Boltshauser, Eugen (2018). Brain Arteriovenous Malformations and Arteriovenous Fistulas. Neuropediatrics, 49(3):227-228.

Rizzi, Mattia; Goldenberg, Neil; Bonduel, Mariana; Revel-Vilk, Shoshana; Amankwah, Ernest; Albisetti, Manuela (2018). Catheter-Related Arterial Thrombosis in Neonates and Children: A Systematic Review. Thrombosis and Haemostasis, 118(6):1058-1066.

Worm, M; Francuzik, W; Renaudin, J-M; et al; Scherer Hofmeier, K; Köhli, A (2018). Factors increasing the risk for a severe reaction in anaphylaxis: An analysis of data from The European Anaphylaxis Registry. Allergy, 73(6):1322-1330.

Bigi, S; Dulcey, A; Gralla, J; Bernasconi, C; Melliger, A; Datta, A N; Arnold, M; Kaesmacher, J; Fluss, J; Hackenberg, A; Maier, O; Weber, J; Poloni, C; Fischer, U; Steinlin, M (2018). Feasibility, safety, and outcome of recanalization treatment in childhood stroke. Annals of Neurology, 83(6):1125-1132.

Miller, Elka; Inarejos Clemente, Emilio J; Tzaribachev, Nikolay; Guleria, Saurabh; Tolend, Mirkamal; Meyers, Arthur B; von Kalle, Thekla; Stimec, Jennifer; Koos, Bernd; Appenzeller, Simone; Arvidsson, Linda Z; Kirkhus, Eva; Doria, Andrea S; Kellenberger, Christian J; Larheim, Tore A (2018). Imaging of temporomandibular joint abnormalities in juvenile idiopathic arthritis with a focus on developing a magnetic resonance imaging protocol. Pediatric Radiology, 48(6):792-800.

Kube, Stefanie; Vokuhl, Christian; Dantonello, Tobias; Scheer, Monika; Hallmen, Erika; Feuchtgruber, Simone; Escherich, Gabriele; Niggli, Felix; Kuehnle, Ingrid; von Kalle, Thekla; Bielack, Stefan; Klingebiel, Thomas; Koscielniak, Ewa (2018). Inflammatory myofibroblastic tumors-A retrospective analysis of the Cooperative Weichteilsarkom Studiengruppe. Pediatric Blood & Cancer, 65(6):e27012.

Ammann-Reiffer, Corinne; Labruyère, Rob (2018). Letter to the Editor on “Effects of Antigravity Treadmill Training on Gait, Balance, and Fall Risk in Children With Diplegic Cerebral Palsy”. American Journal of Physical Medicine & Rehabilitation, 97(6):e55-e56.

Martinón-Torres, Federico; Salas, Antonio; Rivero-Calle, Irene; Cebey-López, Miriam; Pardo-Seco, Jacobo; Herberg, Jethro A; Boeddha, Navin P; Klobassa, Daniela S; Secka, Fatou; Paulus, Stephane; de Groot, Ronald; Schlapbach, Luregn J; Driessen, Gertjan J; Anderson, Suzanne T; Emonts, Marieke; Zenz, Werner; Carrol, Enitan D; Van der Flier, Michiel; Levin, Michael; EUCLIDS Consortium (2018). Life-threatenin