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Number of items: 13.

Asadollahi, Reza; Zweier, Markus; Gogoll, Laura; Schiffmann, Raphael; Sticht, Heinrich; Steindl, Katharina; Rauch, Anita (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60(9):451-464.

Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J; Stromme, Petter; Rosenfeld, Jill A; Shao, Yunru; Craigen, William J; Schaaf, Christian P; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D; Nugent, Kimberly M; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjørg; Chambon, Pascal; et al (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.

Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; DDD Study; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Christiane (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics, 54(1):64-72.

Abela, Lucia; Spiegel, Ronen; Crowther, Lisa M; Klein, Andrea; Steindl, Katharina; Papuc, Sorina Mihaela; Joset, Pascal; Zehavi, Yoav; Rauch, Anita; Plecko, Barbara; Simmons, Thomas Luke (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5):e0176363.

Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean-Claude; Rauch, Anita (2016). Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 200:72-75.

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.

Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.

Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux, Joris; Dieux, Anne; FitzPatrick, David; Ritter, Susanne; Baumer, Alessandra; Latal, Beatrice; Plecko, Barbara; Jenni, Oskar G; Rauch, Anita (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10):677-688.

Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein-Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; Hebisch, Gundula; Hüsler, Margaret; Mueller, René; Prentl, Elke; Wisser, Josef; Zimmermann, Roland; Rauch, Anita (2014). High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenatal Diagnosis, 34(6):525-533.

Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica (2014). Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia, 55(6):849-857.

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques, Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11):1243-1248.

This list was generated on Tue Dec 12 09:14:50 2017 CET.