2014

Steiner B, Masood R, Rufibach K, Niedrist D, Kundert O, Riegel M, Schinzel A (2014) An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. Eur J Hum Genet. 2014 Jul 9. doi: 10.1038/ejhg.2014.122. [Epub ahead of print] PMID: 25005732 [PubMed - as supplied by publisher]

Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D (2014) Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia. 2014 Jun;55(6):849-57. doi: 10.1111/epi.12617. Epub 2014 Apr 16. PMID: 24738919 [PubMed - indexed for MEDLINE]

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):310. PMID: 24360808 [PubMed - indexed for MEDLINE]

Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A (2014) De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet [Epub ahead of print]

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet [Epub ahead of print]

Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M (2014) Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Eur J Pediatr 2014 Jun 29 [Epub ahead of print]

Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A (2014) High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenat Diagn 34:525-533.

Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB (2014) Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems. Am J Hum Genet 94:649-661.

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B (2014) Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene. Neuropediatrics 45:261-264.

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014) A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. Am J Med Genet A164A:1277-1283.

Hart L, Rauch A, Carr AM, Vermeesch JR, O'Driscoll M (2014) LETM1 haploinsufficiency causes mitochondrial defects in Wolf-Hirschhorn syndrome patient cells: implications for dissecting underlying pathomechanisms in this condition. Dis Model Mech 7:535-545.

Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; the DYSCERNE expert panel, 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. Eur J Hum Genet 22:327-332.