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Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.American Journal of Human Genetics|September 12, 2007
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationJanine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, et al.Cold Spring Harbor Molecular Case Studies|September 29, 2018
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorderMichael Zech, Daniel D Lam, Sandrina Weber, et al.Pediatric Research|July 1, 2017
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Muhammad Umair, Bader Alhaddad, Afzal Rafique, et al.Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 10, 2020
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3Konrad Schwefel, Stefanie Spiegler, Bettina C Kirchmaier, et al.Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.European Journal of Medical Genetics|November 21, 2017
Novel mosaic variants in two patients with Cornelia de Lange syndromeJelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, et al.Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.American Journal of Medical Genetics. Part A|March 27, 2020
Human RAD50 deficiency: Confirmation of a distinctive phenotypeAviël Ragamin, Gökhan Yigit, Kristine Bousset, et al.Pageof 29