Publikationen in 2011 1. Braunholz D, Hullings M, Gil-Rodríguez MC ...

Publikationen in 2011
1. Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E,
Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J,
Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA,
Kaiser FJ. Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome
alter MAU2 interaction. Eur J Hum Genet. 2011 Sep 21. [Epub ahead of print]
2. Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC,
Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F,
Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Mutations in KIF7 link
Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin
Invest. 2011;121:2662-2667.
3. Edener U, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C. Two
dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not
allelic. J Neurol. 2011;258:1223-1227.
4. Fischer A, Nothnagel M, Franke A, Jacobs G, Saadati HR, Gaede KI, Rosenstiel P,
Schürmann M, Müller-Quernheim J, Schreiber S, Hofmann S. Association of
inflammatory bowel disease risk loci with sarcoidosis, and its acute and chronic
subphenotypes. Eur Respir J. 2011;37:610-616.
5. Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S,
Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C,
Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D,
Newbury-Ecob R. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review
of the literature, and discussion of possible pathogenesis. Eur J Hum Genet.
2011;19:513-519.
6. Hofmann S, Fischer A, Till A, Müller-Quernheim J, Häsler R, Franke A, Gäde KI,
Schaarschmidt H, Rosenstiel P, Nebel A, Schürmann M, Nothnagel M, Schreiber S;
GenPhenReSa Consortium. A genome-wide association study reveals evidence of
association with sarcoidosis at 6p12.1. Eur Respir J. 2011;38:1127-1135.
7. Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P,
Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S,
Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D,
Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense
mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011;43:729-731.
8. Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van
den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M,
Smeitink JA, van der Burgt I, Morava E. Mitochondrial dysfunction and organic
aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur J Hum
Genet. 2011;19:138-144.
9. Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D,
Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek
D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists

of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and
corpus callosum hypogenesis. J Med Genet. 2011;48:396-406.
10. Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik
B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S,
Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G,
Wieczorek D, Wollnik B. A mutation screen in patients with Kabuki syndrome. Hum
Genet. 2011;130:715-724.
11. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider
SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E,
Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser
FJ, Klein C, Brüggemann N. Identification and functional analysis of novel THAP1
mutations. Eur J Hum Genet. 2011 Aug 17. [Epub ahead of print]
12. Mohrmann I, Gillessen-Kaesbach G, Siebert R, Caliebe A, Hellenbroich Y. A de novo
0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems,
autistic traits, dysmorphic features and multiple endocrine neoplasia type 1. Eur J Med
Genet. 2011;54:e461-464.
13. Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke
P, de la Chapelle A, Westman J. Microcephalic osteodysplastic primordial dwarfism
type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2011 Aug 4. [Epub
ahead of print]
14. Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke
G, Gil-Rodríguez C, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G,
Klein C, Lohmann K, Kaiser FJ. Truncating mutations in THAP1 define the nuclear
localization signal. Mov Disord. 2011;26:1565-1567.
15. Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R,
Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F,
Tzschach A, Kalscheuer VM. Identification of a novel CDKL5 exon and pathogenic
mutations in patients with severe mental retardation, early-onset seizures and Rett-like
features. Neurogenetics. 2011;12:165-167.
16. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A,
Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D,
Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A,
Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga
AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van
Bokhoven H, Fitzpatrick DR. Loss of the BMP antagonist, SMOC-1, causes
Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS Genet. 2011;7:e1002114.
17. Reetz K, Kleiman A, Klein C, Lencer R, Zuehlke C, Brockmann K, Rolfs A, Binkofski
F. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.
PLoS One. 2011;6:e15125.
18. Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler
S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K.

Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov
Disord. 2011;26:858-861.
19. Spiegler J, Stefanova I, Hellenbroich Y, Sperner J. Bowel obstruction in patients with
alpers-huttenlocher syndrome. Neuropediatrics. 2011;42:194-196.
20. Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR,
Savarirayan R, Zenker M. Two novel germline KRAS mutations: expanding the
molecular and clinical phenotype. Clin Genet. 2011 Jul 28. [Epub ahead of print]
21. Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM,
Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. Fetal akinesia in
metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Am J Med Genet A. 2011;155A:2860-2864.
22. Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G,
Mohrmann I, Hellenbroich Y. A 1 Mb-sized microdeletion Xq26.2 encompassing the
GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal
findings and review. Eur J Med Genet. 2011;54:343-347.
23. Weichert J, Schröer A, Beyer DA, Gillessen-Kaesbach G, Stefanova I. Cornelia de
Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare
gonadal mosaicism of NIPBL gene mutation. J Matern Fetal Neonatal Med.
2011;24:978-982.
24. Zaki MS, Gillessen-Kaesbach G, Vater I, Caliebe A, Siebert R, Kamel AK, Mohamed
AM, Mazen I. Bladder exstrophy and extreme genital anomaly in a patient with pure
terminal 1q deletion: Expansion of phenotypic spectrum. Eur J Med Genet. 2011 Oct 19.
[Epub ahead of print]
25. Zühlke C, Hellenbroich Y, Gillessen-Kaesbach G. Genetische Prinzipien der Vererbung
- Teil II: Mentale Retardierung. Pädiatrische Praxis. 2011;76:693-702
26. Zühlke C, Kreuz F, Bürk K. [Clinical details and genetics of recessive ataxias].
Nervenarzt. 2011;82:447-458.