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Schaerer, V; Haubitz, S; Kovari, H; Ledergerber, B; Ambrosioni, J; Cavassini, M; Stoeckle, M; Schmid, P; Decosterd, L; Aouri, M; Böni, J; Günthard, H F; Furrer, H; Metzner, K J; Fehr, J; Rauch, A (2015). Protease inhibitors to treat hepatitis C in the Swiss HIV Cohort Study: high efficacy but low treatment uptake. HIV Medicine, 16(10):599-607.

Kouyos, R D; Rauch, A; Braun, D L; Yang, W-L; Böni, J; Yerly, S; Klimkait, T; Aubert, V; Shah, C; Kovari, H; Calmy, A; Cavassini, M; Battegay, M; Vernazza, P L; Bernasconi, E; Ledergerber, B; Gunthard, H F (2014). Higher Risk of Incident Hepatitis C Virus Coinfection Among Men Who Have Sex With Men, in Whom the HIV Genetic Bottleneck at Transmission Was Wide. Journal of Infectious Diseases, 210(10):1555-1561.

Braun, D L; Rauch, A; Durisch, N; Eberhard, N; Anagnostopoulos, A; Ledergerber, B; Metzner, K J; Böni, J; Weber, R; Fehr, J (2014). Efficacy of lead-in silibinin and subsequent triple therapy in difficult-to-treat HIV/hepatitis C virus-coinfected patients. HIV Medicine, 15:625-630.

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Braun, D l; Rauch, A; Durisch, N; Eberhard, N; Anagnostopoulos, A; Ledergerber, B; Metzner, K J; Böni, J; Weber, R; Fehr, J (2014). Efficacy of lead-in silibinin and subsequent triple therapy in difficult-to-treat HIV/hepatitis C virus-coinfected patients. Neurobehavioral HIV Medicine, 15(10):625-630.

Rauch, P J; Müllhaupt, B; Biedermann, L; Manz, M G; Ruschitzka, F; Flammer, A; Segerer, S T; Mohebbi, N; Jung, H H; Moch, H; Ikenberg, K; Aguzzi, A; Nuvolone, M; Distler, O; Rauch, A; Fehr, T H; Gerber, B (2014). Systemische Amyloidosen. Swiss Medical Forum, 14(50):943-948.

Gasser, O; Brander, C; Wolbers, M; Brown, N; Rauch, A; Günthard, H; Battegay, M; Hess, C (2013). Expansion of interferon-γ-secreting HIV-specific T cells during successful antiretroviral therapy. HIV Medicine, 14(4):241-246.

Steinbusch, C V M; van Roozendaal, K E P; Tserpelis, D; Smeets, E E J; Kranenburg-de Koning, T J; de Waal, K H; Zweier, C; Rauch, A; Hennekam, R C M; Blok, M J; Schrander-Stumpel, C T R M (2013). Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clinical Genetics, 83(1):73-77.

Stern, M; Czaja, K; Rauch, A; Rickenbach, M; Günthard, H F; Battegay, M; Fellay, J; Hirschel, B; Hess, C (2012). HLA-Bw4 identifies a population of HIV-infected patients with an increased capacity to control viral replication after structured treatment interruption. HIV Medicine, 13(10):589-595.

Wolff, D; Endele, S; Azzarello-Burri, S; Hoyer, J; Zweier, M; Schanze, I; Schmitt, B; Rauch, A; Reis, A; Zweier, C (2012). In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.

Keiser, O; Spycher, B; Rauch, A; Calmy, A; Cavassini, M; Glass, T R; Nicca, D; Ledergerber, B; Egger, M (2012). Outcomes of antiretroviral therapy in the Swiss HIV Cohort Study: Latent class analysis. AIDS and Behavior, 16(2):245-255.

Zweier, M; Rauch, A (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3-5):164-170.

Hofmann, K; Becker, Jutta; Heller, R; Boute, O; Andrieux, J; Hoyer, J; Ekici, A B; Reis, A; Rauch, A (2011). 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics, 54(5):e495-e500.

Kouyos, R D; von Wyl, V; Yerly, S; Böni, J; Rieder, P; Joos, B; Taffé, P; Shah, C; Bürgisser, P; Klimkait, T; Weber, R; Hirschel, B; Cavassini, M; Rauch, A; Battegay, M; Vernazza, P L; Bernasconi, E; Ledergerber, B; Bonhoeffer, S; Günthard, H F (2011). Ambiguous nucleotide calls from population-based sequencing of HIV-1 are a marker for viral diversity and the age of infection. Clinical Infectious Diseases, 52(4):532-539.

Kalay, E; et al; Rauch, A (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1):23-26.

Rotger, M; Dalmau, J; Rauch, A; McLaren, P; Bosinger, S E; Martinez, R; Sandler, N G; Roque, A; Liebner, J; Battegay, M; Bernasconi, E; Descombes, P; Erkizia, I; Fellay, J; Hirschel, B; Miró, J M; Palou, E; Hoffmann, M; Massanella, M; Blanco, J; Woods, M; Günthard, H F; de Bakker, P; Douek, D C; Silvestri, G; Martinez-Picado, J; Telenti, A (2011). Comparative transcriptomics of extreme phenotypes of human HIV-1 infection and SIV infection in sooty mangabey and rhesus macaque. Journal of Clinical Investigation, 121(6):2391-2400.

Hoischen, A; van Bon, B W M; Rodríguez-Santiago, B; Gilissen, C; Vissers, L E L M; de Vries, P; Janssen, I; van Lier, B; Hastings, R; Smithson, S F; Newbury-Ecob, R; Kjaergaard, S; Goodship, J; McGowan, R; Bartholdi, D; Rauch, A; Peippo, M; Cobben, J M; Wieczorek, D; Gillessen-Kaesbach, G; Veltman, J A; Brunner, H G; de Vries, B B B A (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8):729-731.

Kraft, M; Cirstea, I C; Voss, A K; Thomas, T; Goehring, I; Sheikh, B N; Gordon, L; Scott, H; Smyth, G K; Ahmadian, M R; Trautmann, U; Zenker, M; Tartaglia, M; Ekici, A; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9):3479-3491.

von Wyl, V; Gianella, S; Fischer, M; Niederoest, B; Kuster, H; Battegay, M; Bernasconi, E; Cavassini, M; Rauch, A; Hirschel, B; Vernazza, P; Weber, R; Joos, B; Günthard, H F (2011). Early antiretroviral therapy during primary HIV-1 infection results in a transient reduction of the viral setpoint upon treatment interruption. PLoS ONE, 6(11):e27463.

Gianella, S; von Wyl, V; Fischer, M; Niederoest, B; Battegay, M; Bernasconi, E; Cavassini, M; Rauch, A; Hirschel, B; Vernazza, P; Weber, R; Joos, B; Günthard, H F (2011). Effect of early antiretroviral therapy during primary HIV-1 infection on cell-associated HIV-1 DNA and plasma HIV-1 RNA. Antiviral Therapy, 16(4):535-545.

di Iulio, J; Ciuffi, A; Fitzmaurice, K; Kelleher, D; Rotger, M; Fellay, J; Martinez, R; Pulit, S; Furrer, H; Günthard, H F; Battegay, M; Bernasconi, E; Schmid, P; Hirschel, B; Barnes, E; Klenerman, P; Telenti, A; Rauch, A (2011). Estimating the net contribution of interleukin-28B variation to spontaneous hepatitis C virus clearance. Hepatology, 53(5):1446-1454.

Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

Zahnleiter, D; Trautmann, U; Ekici, A B; Goehring, I; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. European Journal of Medical Genetics, 54(5):e521-e524.

Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Boillat-Blanco, Noémie; Probst, A; Da Costa, V W; Giulieri, S; Bernasconi, E; Calmy, A; Elzi, L; Rauch, A; Weber, R; Bertisch, B; Cavassini, M; Bochud, P Y (2011). Impact of a nurse vaccination program on hepatitis B immunity in a Swiss HIV clinic. Journal of Acquired Immune Deficiency Syndromes, 58(5):472-474.

Scherrer, A U; Ledergerber, B; von Wyl, V; Böni, J; Yerly, S; Klimkait, T; Bürgisser, P; Rauch, A; Hirschel, B; Cavassini, M; Elzi, L; Vernazza, P L; Bernasconi, E; Held, L; Günthard, H F (2011). Improved virological outcome in white patients infected with HIV-1 non-B subtypes compared to subtype B. Clinical Infectious Diseases, 53(11):1143-1152.

Busche, A; Graul-Neumann, L M; Zweier, C; Rauch, A; Klopocki, E; Horn, D (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. European Journal of Medical Genetics, 54(3):256-261.

Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, R G; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, N D; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, B B A; Esko, T; Fernandez, B A; Fernández-Aranda, F; Fernández-Real, J M; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, M R; Kooy, R F; Kurg, A; Le Caignec, C; Männik, K; Platt, O S; Sanlaville, D; Van Haelst, M M; Villatoro Gomez, S; Walha, F; Wu, B L; Yu, Y; Abourae, A; Addor, M C; Alembik, Y; Antonarakis, S E; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, H G; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, J M; Cuvellier, J C; David, A; de Freminville, B; Delobel, B; Delrue, M A; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, J S; Elliott, P; Faas, B H W; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, H J; Guichet, A; Guillin, O; Hartikainen, A L; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, G J; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, N V A M; Koolen, D A; Kroisel, P M; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, K D; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, M I; Meitinger, T; Mencarelli, M A; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, N C; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, G P; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, J S; Rieubland, C; Roberts, W; Roetzer, K M; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, D J; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, F J; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, A T; Waeber, G; Wallgren-Pettersson, C; Witwicki, R M; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, J F; Gustafsson, O; Metspalu, A; Scherer, S W; Stefansson, K; Blakemore, A I F; Beckmann, J S; Froguel, P (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478(7367):97-102.

Thiel, C; Kessler, K; Giessl, A; Dimmler, A; Shalev, S A; von der Haar, S; Zenker, M; Zahnleiter, D; Stöss, H; Beinder, E; Abou Jamra, R; Ekici, A; Schröder-Kress, N; Aigner, T; Kirchner, T; Reis, A; Brandstätter, J H; Rauch, A (2011). NEK1 mutations cause short-rib polydactyly syndrome type majewski. American Journal of Human Genetics, 88(1):106-14.

Kortüm, F; Das, S; Flindt, M; Morris-Rosendahl, D J; Stefanova, I; Goldstein, A; Horn, D; Klopocki, E; Kluger, G; Martin, P; Rauch, A; Roumer, A; Saitta, S; Walsh, L E; Wieczorek, D; Uyanik, G; Kutsche, K; Dobyns, W B (2011). The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics, 48(6):396-406.

Thiel, C T; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):131-142.

Rauch, A (2011). The shortest of the short: Pericentrin mutations and beyond. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):125-130.

Kantaputra, P; Tanpaiboon, P; Porntaveetus, T; Ohazama, A; Sharpe, P; Rauch, A; Hussadaloy, A; Thiel, C T (2011). The smallest teeth in the world are caused by mutations in the PCNT gene. American Journal of Medical Genetics. Part A, 155(6):1398-1403.

Rauch, R; Hofbeck, M; Zweier, C; Koch, A; Zink, S; Trautmann, U; Hoyer, J; Kaulitz, R; Singer, H; Rauch, A (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5):321-331.

Göhring, I; Tagariello, A; Endele, S; Stolt, C C; Ghassibé, M; Fisher, M; Thiel, C T; Trautmann, U; Vikkula, M; Winterpacht, A; FitzPatrick, D R; Rauch, A (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2):91-98.

Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.

Renard, M; Holm, T; Regan, V; Callewaert, B L; Adès, L C; Baspinar, O; Pickart, A; Dasouki, M; Hoyer, J; Rauch, A; Trapane, P; Earing, M G; Coucke, P J; Sakai, L Y; Dietz, H C; De Paepe, A M; Loeys, B L (2010). Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics, 18(8):895-901.

Rohrbach, J; Robinson, N; Harcourt, G; Hammond, E; Gaudieri, S; Gorgievski, M; Telenti, A; Keiser, O; Günthard, H F; Hirschel, B; Hoffmann, M; Bernasconi, E; Battegay, M; Furrer, H; Klenerman, P; Rauch, A (2010). Cellular immune responses to HCV core increase and HCV RNA levels decrease during successful antiretroviral therapy. Gut, 59(9):1252-1258.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Molecular Syndromology, 1(3):99-112.

Rauch, A (2010). Editorial. Molecular Syndromology, 1(1):1.

Rauch, A; Kutalik, Z; Descombes, P; Cai, T; Di Iulio, J; Mueller, T; Bochud, M; Battegay, M; Bernasconi, E; Borovicka, J; Colombo, S; Cerny, A; Dufour, J F; Furrer, H; Günthard, H F; Heim, M; Hirschel, B; Malinverni, R; Moradpour, D; Müllhaupt, B; Witteck, A; Beckmann, J S; Berg, T; Bergmann, S; Negro, F; Telenti, A; Bochud, P Y (2010). Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology, 138(4):1338-1338-1345.e7 .

Casado, C; Colombo, S; Rauch, A; Martínez, R; Günthard, H F; Garcia, S; Rodríguez, C; Del Romero, J; Telenti, A; López-Galíndez, C (2010). Host and viral genetic correlates of clinical definitions of HIV-1 disease progression. PLoS ONE, 5(6):e11079.

Kovari, H; Ledergerber, B; Battegay, M; Rauch, A; Hirschel, B; Foguena, A K; Vernazza, P; Bernasconi, E; Mueller, N J; Weber, R (2010). Incidence and risk factors for chronic elevation of alanine aminotransferase levels in HIV-infected persons without hepatitis b or c virus co-infection. Clinical Infectious Diseases, 50(4):502-511.

Ferry, T; Hirschel, B; Dang, T; Meylan, P; Delhumeau, C; Rauch, A; Weber, R; Elzi, L; Bernasconi, E; Schmid, P; Calmy, A (2010). Infrequent replication of parvovirus B19 and erythrovirus genotypes 2 and 3 among HIV-infected patients with chronic anemia. Clinical Infectious Diseases, 50(1):115-118.

Isidor, B; Pichon, O; Redon, R; Day-Salvatore, D; Hamel, A; Siwicka, K A; Bitner-Glindzicz, M; Heymann, D; Kjellén, L; Kraus, C; Leroy, J G; Mortier, G R; Rauch, A; Verloes, A; David, A; Le Caignec, C (2010). Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. American Journal of Human Genetics, 87(1):95-100.

Endele, S; Rosenberger, G; Geider, K; Popp, B; Tamer, C; Stefanova, I; Milh, M; Kortüm, F; Fritsch, A; Pientka, F K; Hellenbroich, Y; Kalscheuer, V M; Kohlhase, J; Moog, U; Rappold, G; Rauch, A; Ropers, H H; von Spiczak, S; Tönnies, H; Villeneuve, N; Villard, L; Zabel, B; Zenker, M; Laube, B; Reis, A; Wieczorek, D; Van Maldergem, L; Kutsche, K (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11):1021-1026.

Zweier, M; Rauch, A; et al (2010). Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation, 31(6):722-733.

Alizon, S; von Wyl, V; Stadler, T; Kouyos, R D; Yerly, S; Hirschel, B; Böni, J; Shah, C; Klimkait, T; Furrer, H; Rauch, A; Vernazza, P L; Bernasconi, E; Battegay, M; Bürgisser, P; Telenti, A; Günthard, H F; Bonhoeffer, S; Swiss HIV Cohort Study (2010). Phylogenetic approach reveals that virus genotype largely determines HIV set-point viral load. PLoS Pathogens, 6(9):e1001123.

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.

Allanson, J E; Bohring, A; Dörr, H G; Dufke, A; Gillessen-Kaesbach, G; Horn, D; König, R; Kratz, C P; Kutsche, K; Pauli, S; Raskin, S; Rauch, A; Turner, A; Wieczorek, D; Zenker, M (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8):1960-1966.

Vandewalle, J; Van Esch, H; Govaerts, K; Verbeeck, J; Zweier, C; Madrigal, I; Mila, M; Pijkels, E; Fernandez, I; Kohlhase, J; Spaich, C; Rauch, A; Fryns, J P; Marynen, P; Froyen, G (2009). Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. American Journal of Human Genetics, 85(6):809-822.

Zweier, C; de Jong, E K; Zweier, M; Oricco, A; Ousager, L B; Collins, A L; Bijlsma, E K; Oortveld, M A V; Ekici, A B; Reis, A; Schenck, A; Rauch, A (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5):655-666.

Segel, R; Levy-Lahad, E; Pasutto, F; Picard, E; Rauch, A; Alterescu, G; Schimmel, M S (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? American Journal of Medical Genetics. Part A, 149A(11):2457-2463.

Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; López González-Meneses, A; Casalone, R; Weber, A; Brueton, L A; Navarro Delicado, A; Bralo Palomares, M; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9):598-606.

Hoyer, J; Kraus, C; Hammersen, G; Geppert, J P; Rauch, A (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76(3):276-281.

Türkkani-Asal, G; Alanay, Y; Turul-Ozgür, T; Zenker, M; Thiel, C; Rauch, A; Unal, S; Gürgey, A; Tezcan, I (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51(5):493-496.

Thiel, C; Wilken, M; Zenker, M; Sticht, H; Fahsold, R; Gusek-Schneider, G C; Rauch, A (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A(6):1263-1267.

Tibelius, A; Marhold, J; Zentgraf, H; Heilig, C E; Neitzel, H; Ducommun, B; Rauch, A; Ho, A D; Bartek, J; Krämer, A (2009). Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. Journal of Cell Biology, 185(7):1149-1157.

Harmsen, M B; Azzarello-Burri, S; García Gonzalez, M M; Gillessen-Kaesbach, G; Meinecke, P; Müller, D; Rauch, A; Rossier, E; Seemanova, E; Spaich, C; Steiner, B; Wieczorek, D; Zenker, M; Kutsche, K (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17(10):1207-1215.

Engels, H; Wohlleber, E; Zink, A; Hoyer, J; Ludwig, K U; Brockschmidt, F F; Wieczorek, D; Moog, U; Hellmann-Mersch, B; Weber, R G; Willatt, L; Kreiss-Nachtsheim, M; Firth, H V; Rauch, A (2009). A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. European Journal of Human Genetics, 17(12):1592-9.

Rauch, A; James, I; Pfafferott, K; Nolan, D; Klenerman, P; Cheng, W; Mollison, L; McCaughan, G; Shackel, N; Jeffrey, G P; Baker, R; Freitas, E; Humphreys, I; Furrer, F; Günthard, H F; Hirschel, B; Mallal, S; John, M; Lucas, M; Barnes, E; Gaudieri, S (2009). Divergent adaptation of hepatitis C virus genotypes 1 and 3 to human leukocyte antigen-restricted immune pressure. Hepatology, 50(4):1017-1029.

Tschochner, M; Chopra, A; Maiden, T M; Ahmad, I F; James, I; Furrer, H; Günthard, H F; Mallal, S; Rauch, A; John, M (2009). Effects of HIV type-1 immune selection on susceptability to integrase inhibitor resistance. Antiviral Therapy, 14(7):953-964.

Gaudieri, S; Rauch, A; Pfafferott, K; Barnes, E; Cheng, W; McCaughan, G; Shackel, N; Jeffrey, G P; Mollison, L; Baker, R; Furrer, H; Günthard, H F; Freitas, E; Humphreys, I; Klenerman, P; Mallal, S; James, I; Roberts, S; Nolan, D; Lucas, M (2009). Hepatitis C virus drug resistance and immune-driven adaptations: relevance to new antiviral therapy. Hepatology, 49(4):1069-1082.

Combescure, C; Vallier, N; Ledergerber, B; Cavassini, M; Furrer, H; Rauch, A; Battegay, M; Bernasconi, E; Vernazza, P; Hirschel, B (2009). How reliable is an undetectable viral load? HIV Medicine, 10(8):470-476.

Clifford, G M; Rickenbach, M; Polesel, J; Dal Maso, L; Steffen, I; Ledergerber, B; Rauch, A; Probst-Hensch, N M; Bouchardy, C; Levi, F; Franceschi, S (2008). Influence of HIV-related immunodeficiency on the risk of hepatocellular carcinoma. AIDS, 22(16):2135-2141.

Rauch, A; Nolan, D; Furrer, H; McKinnon, E; John, M; Mallal, S; Gaudieri, S; Günthard, H F; Schmid, P; Battegay, M; Hirschel, B; Telenti, A; James, I (2008). HLA-Bw4 homozygosity is associated with an impaired CD4 T cell recovery after initiation of antiretroviral therapy. Clinical Infectious Diseases, 46(12):1921-1925.

Rauch, A; Gaudieri, S; Evison, J; Nolan, D; Cavassini, M; Weber, R; James, I; Furrer, H; Swiss HIV Cohort Study (2008). Low current and nadir CD4+ T-cell counts are associated with higher hepatitis C virus RNA levels in the Swiss HIV cohort study. Antiviral Therapy, 13(3):455-460.

Rauch, A; Nolan, D; Thurnheer, C; Fux, C; Cavassini, M; Chave, J P; Opravil, M; Phillips, E; Mallal, S; Furrer, H; Swiss HIV Cohort Study (2008). Refining abacavir hypersensitivity diagnoses using a structured clinical assessment and genetic testing in the Swiss HIV Cohort Study. Antiviral Therapy, 13(8):1019-1028.

Fux, C; Rauch, A; Simcock, M; Bucher, H; Hirschel, B; Opravil, M; Vernazza, P; Cavassini, M; Bernasconi, E; Elzi, L; Furrer, H; Swiss HIV Cohort Study (2008). Tenofovir Use Is Associated with an Increase in Serum Alkaline Phosphatase in the Swiss HIV Cohort Study. Antiviral Therapy, 13:1077-1082.

Colombo, S; Rauch, A; Rotger, M; Fellay, J; Martinez, R; Fux, C; Thurnheer, C; Günthard, H F; Goldstein, D B; Furrer, H; Telenti, A (2008). The HCP5 single-nucleotide polymorphism: a simple screening tool for prediction of hypersensitivity reaction to abacavir. Journal of Infectious Diseases, 198(6):864-867.

This list was generated on Wed Sep 20 06:19:39 2017 CEST.