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American Journal of Human Genetics|October 25, 2011
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidKathrin Laue, Hans-Martin Pogoda, Philip B Daniel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Clinical Genetics|September 20, 2021
RNF43 pathogenic Germline variant in a family with colorectal cancerReger R Mikaeel, Joanne P Young, Yun Li, et al.
American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.
Human Molecular Genetics|August 7, 2013
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyMuhammad S Hussain, Shahid M Baig, Sascha Neumann, et al.
American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.
Cancers|December 30, 2025
Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden TestingRuocen Song, Reger R Mikaeel, Zhongping He, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
Human Genetics|September 21, 2021
Biallelic variants in YRDC cause a developmental disorder with progeroid featuresJulia Schmidt, Jonas Goergens, Tatiana Pochechueva, et al.
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