2012

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19):4314-4324.

Frühmesser, Anne; Haberlandt, Edda; Judmaier, Werner; Schinzel, Albert; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9):2239-2244.

Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Géraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R; Bernstein, Jonathan A; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, François; Rivière, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Bérénice; Majore, Silvia; Bonneau, Dominique; Triau, Stéphane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; Deberardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire (2012). Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33(2):316-326.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3):565-572.

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum, 11(4):1026-1036.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B; Zink, Alexander M; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380(9854):1674-1682.

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.

Robberecht, Caroline; Voet, Thierry; Utine, Gülen E; Schinzel, Albert; de Leeuw, Nicole; Fryns, Jean-Pierre; Vermeesch, Joris (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5:19.

Soemedi, Rachel; Topf, Ana; Wilson, Ian J; Darlay, Rebecca; Rahman, Thahira; Glen, Elise; Hall, Darroch; Huang, Ni; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, J David; Granados-Riveron, Javier; Setchfield, Kerry; Bu'lock, Frances; Thornborough, Chris; Devriendt, Koenraad; Breckpot, Jeroen; Hofbeck, Michael; Lathrop, Mark; Rauch, Anita; Blue, Gillian M; Winlaw, David S; Hurles, Matthew; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard D (2012). Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics, 21(7):1513-1520.

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.

Zingg-Schenk A, Caduff J, Azzarello-Burri S, Bergmann C, Drenth JP, Neuhaus TJ. (2012) Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatr Nephrol. 2012 Jul;27(7):1197-200.

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

Thiel C, Rauch A (2012) Wachstumsstörungen als Leitsymptom. Medizinische Genetik 24:123-137.

Oneda B, Rauch A (2012) Molekulare Karyotypisierung in der Diagnostik neurokognitiver Entwicklungsstörungen. Medizinische Genetik 24:94-98.

Rauch A. Next-Generation-Sequenzierung - Ein Quantensprung in der Aufklärung genetischer Erkrankungen. Schweiz Med Forum 2012;12(3):44–46.

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