2015

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue T C, Ishak G E, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Ramadevi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Halilog˘lu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. In: Journal of Medical Genetics 52(8), 514-522 http://dx.doi.org/10.1136/jmedgenet-2015-103087

Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SEC, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SCF, Kremer H, van Wijk E (2015). The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. In: PLoS Genetics 11(10), e1005575 http://dx.doi.org/10.1371/journal.pgen.1005575

Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J, Doherty D (2015). KIAA0586 is mutated in Joubert syndrome. In: Human Mutation 36(9), 831-835 http://dx.doi.org/10.1002/humu.22821

Bülow L, Lissewski C, Bressel R, Rauch A, Stark Z, Zenker M, Bartsch O (2015). Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. Am J Med Genet A 167A:394-399

Dona M, Bachmann-Gagescu R, Texier Y, Toedt G, Hetterschijt L, Tonnaer E L, Peters TA, van Beersum SEC, Bergboer JGM, Horn N, de Vrieze E, Slijkerman RWN, van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, vanWijk E (2015). NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. In: PLoS Genetics 11(10), e1005574 http://dx.doi.org/10.1371/journal.pgen.1005574

Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A (2015). A severe congenital myasthenic syndrome with 'dropped head' caused by novel MUSK mutations. Muscle Nerve 52:668-673. http://dx.doi.org/10.1002/mus.24687

Gschwind M, Foletti G, Baumer A, Bottani A, Novy J (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. In: Molecular Syndromology 6(2), 91-95 http://dx.doi.org/10.1159/000430429

Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S (2015). PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet 47:647-653. http://dx.doi.org/10.1038/ng.3302

Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M (2015). Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. Hum Mutat 36:787-796 http://dx.doi.org/10.1002/humu.22809

May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, van der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH (2015). ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. In: Human Molecular Genetics 24(17), 4848-4861 http://dx.doi.org/10.1093/hmg/ddv208

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A; 16p11 2 European Consortium (2015). A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet 96:784-796. http://dx.doi.org/10.1016/j.ajhg.2015.04.002

Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet 23:602-609. http://dx.doi.org/10.1038/ejhg.2014.150

Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet  24:3708-3717. http://dx.doi.org/10.1093/hmg/ddv115

Steiner B, Masood R, Rufibach K, Niedrist D, Kundert O, Riegel M, Schinzel A (2015). An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. In: European Journal of Human Genetics 23(4), 466-472 http://dx.doi.org/10.1038/ejhg.2014.122

Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP (2015). Variants in CUL4B are Associated with Cerebral Malformations. Hum Mutat 36:106-117. doi:10.1002/humu.22718

Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bögershausen N, Uyguner ZO, Altunoglu U, Nürnberg G, Nürnberg P, Rauch A, Li Y, Thiel CT, Wollnik B (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Mol Genet Genomic Med 3:467-480. http://dx.doi.org/10.1002/mgg3.158

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet 52:804-814. http://dx.doi.org/10.1136/jmedgenet-2015-103184