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Journal Article
Ganapathi, Mythily 
ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger ORCID: 0000-0002-0169-998X, Cyganek, Lukas ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd
(2020).
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum. Genet., 139 (11).
S. 1443 - 1455.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma
(2021).
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Am. J. Med. Genet. A, 185 (4).
S. 1216 - 1222.
HOBOKEN:
WILEY.
ISSN 1552-4833
Goenenc, Ipek Ilgin, Elcioglu, Nursel H., Grijalva, Carolina Martinez, Aras, Seda, Grossmann, Nadine, Praulich, Inka, Altmueller, Janine, Kaulfuss, Silke, Li, Yun, Nuernberg, Peter, Burfeind, Peter, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364
(2022).
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Clin. Genet., 101 (5-6).
S. 559 - 565.
HOBOKEN:
WILEY.
ISSN 1399-0004
Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Burfeind, Peter, Reiss, Jochen and Smorag, Lukasz
(2016).
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Hum. Genet., 135 (7).
S. 813 - 827.
NEW YORK:
SPRINGER.
ISSN 1432-1203
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
Yigit, Gokhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmueller, Janine, Nuernberg, Peter, Douiev, Liza ORCID: 0000-0001-5120-698X, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Burfeind, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Brockmann, Knut
.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J. Med. Genet..
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244