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Journal Article
Neuhofer, Christiane M. 
ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke
(2020).
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Mol. Syndromol., 11 (1).
S. 30 - 38.
BASEL:
KARGER.
ISSN 1661-8777
Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd
(2022).
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front. Cell. Dev. Biol., 10.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 2296-634X
Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364
(2022).
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Eur. J. Hum. Genet., 30 (2).
S. 211 - 219.
LONDON:
SPRINGERNATURE.
ISSN 1476-5438
Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke
(2020).
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Hum. Genet., 139 (11).
S. 1363 - 1380.
NEW YORK:
SPRINGER.
ISSN 1432-1203