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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.
Clinical Genetics|February 26, 2022
Phenotypic spectrum of BLM- and RMI1-related Bloom syndromeIpek Ilgin Gönenc, Nursel H Elcioglu, Carolina Martinez Grijalva, et al.
Orphanet Journal of Rare Diseases|May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continuedSimone Schröder, Gökhan Yigit, Yun Li, et al.
Stem Cell Research|February 15, 2026
Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutationMeike Anders, Stefanie Hoppe, Hanna Eberl, et al.
American Journal of Human Genetics|November 29, 2002
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaWilliam A Paznekas, Simeon A Boyadjiev, Robert E Shapiro, et al.
American Journal of Medical Genetics. Part A|April 8, 2022
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndromeEsin Karakilic-Ozturan, Umut Altunoglu, Ayse Pinar Ozturk, et al.
American Journal of Medical Genetics. Part A|January 11, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal studyAndrea Gangfuß, Gökhan Yigit, Janine Altmüller, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
A large duplication involving the IHH locus mimics acrocallosal syndromeMemnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, et al.
Nucleic Acids Research|March 10, 2026
Mitotic BLM functions are required to maintain genomic stabilityTamara Eleanore Hamann, Angela Wieland, Farbod Mohseni, et al.
Human Genetics|March 21, 2023
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephalyFranziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, et al.
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