2013

Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D (2013) A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet 50(12):838-47.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PO, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkynay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A (2013) A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Hum Mol Genet [Epub ahead of print]

Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD (2013) Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls. Circ Cardiovasc Genet 6:347-53.

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 (2013) Dysmorphology at a distance: results of a web-based diagnostic service. Eur J Hum Genet [Epub ahead of print]

Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A (2013) Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. Am J Med Genet A 161A:1853-9.

Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C (2013) De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet 93:124-31.

Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K (2013) Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. Eur J Hum Genet [Epub ahead of print]

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT (2013) Rare copy number variants are a common cause of short stature. PLoS Genet 9:e1003365.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, Dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiol 122:1-6.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet 21:1100-4.

Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA (2013) Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot. Hum Mol Genet 22:1473-81.

Schinzel A, Riegel M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A. 2013. Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications. Am J Med Genet A. 161(9):2216-25.

Vulto-van Silfhout AT, van Ravenswaaij CM, Hehir-Kwa JY, Verwiel ET, Dirks R, van Vooren S, Schinzel A, de Vries BB, de Leeuw N. 2013. An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. Eur J Med Genet. 56(9):471-4.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet J Rare Dis. 2013 Feb 25;8(1):36

Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. 2013. Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet. 2013 Jan 10;92(1):144-9.

Dobrinas M, Crettol S, Oneda B, Lahyani R, Rotger M, Choong E, Lubomirov R, Csajka C, Eap CB. Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. Pharmacogenet Genomics. 2013 Feb;23(2):84-93.

Genet Med. 2013 May;15(5):410-1. doi: 10.1038/gim.2013.27. Avicenna's view on medical genetics. Asadollahi R, Asadollahi H. (Letter to the editor)

Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A. Biallelic SEMA3A defects cause a novel type of syndromic short stature. Am J Med Genet A. 2013;161(11):2880-9

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. (Dunja Niedrist as part of International JSRD Study group) 2013: Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct;21(10):1074-8.

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.

Otte C, Rauch A (2013) Mentale Retardierung – eine häufige Fragestellung in der medizinischen Genetik. Praxis (Bern 1994) 102:1467-73.

Pajarola S, Bachmann R, Niedrist D, Rauch A (2013) Grundlagen der medizinischen Genetik. Praxis (Bern 1994) 102:1457-65.

Niedrist D. Genetik: Schlagzeilen in der Genetik 2013. Schweiz Med Forum 2014;14(0102):13-14

Steindl K. Marfan syndrome and related connective tissue disorders. Praxis (Bern 1994). 2013 Nov 27;102(24):1483-8. doi: 10.1024/1661-8157/a001496. Review. German.

Cobilanschi J.  Genetic diagnostics of cancer diseases. Praxis (Bern 1994). 2013 Nov 27;102(24):1475-82. doi: 10.1024/1661-8157/a001489. Review. German.