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European Journal of Human Genetics : EJHG|December 3, 2024
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approachesMert Karakaya, Iman Ragab, Vera Riehmer, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 8, 2007
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with auraChristian Netzer, Jan Freudenberg, Mohammad R Toliat, et al.
American Journal of Human Genetics|August 7, 2012
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callusOliver Semler, Lutz Garbes, Katharina Keupp, et al.
Journal of Lipid Research|June 6, 2018
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemiaJacqueline S Dron, Jian Wang, Amanda J Berberich, et al.
Clinical Genetics|December 5, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological DisorderPeriyasamy Radhakrishnan, Neha Quadri, Florian Erger, et al.
EMBO Molecular Medicine|June 9, 2023
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfectaJulia Etich, Oliver Semler, Nicola L Stevenson, et al.
Human Mutation|February 27, 2008
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complexSonja Stahl, Sabine Gaetzner, Katrin Voss, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
American Journal of Human Genetics|March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaJutta Becker, Oliver Semler, Christian Gilissen, et al.
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