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American Journal of Medical Genetics. Part A|July 26, 2017
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalitiesDenise Horn, Eberhard Siebert, Ulrich Seidel, et al.
Molecular Genetics & Genomic Medicine|October 23, 2024
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical FindingIbrahim M Abdelrazek, Alexej Knaus, Behnam Javanmardi, et al.
BMC Medical Genetics|July 13, 2010
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one familySevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, et al.
American Journal of Medical Genetics. Part A|October 8, 2016
Familial Gordon syndrome associated with a PIEZO2 mutationFranz Alisch, Alexander Weichert, Karim Kalache, et al.
Clinical Genetics|December 23, 2022
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1Christof Dame, Denise Horn, Lutz Schomburg, et al.
Bioinformatics (Oxford, England)|June 25, 2022
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noiseVinzenz May, Leonard Koch, Björn Fischer-Zirnsak, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Human Mutation|June 20, 2003
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR methodWera Hofmann, Heike Görgens, Anika John, et al.
The Journal of Biological Chemistry|December 11, 2014
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowthWenke Seifert, Jirko Kühnisch, Tanja Maritzen, et al.
Plos One|April 25, 2012
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevanceJulia Zimmer, Sandra C Doelken, Denise Horn, et al.
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