Daniel Cohn

Daniel Cohn

University of California Los Angeles - Los Angeles / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1750837
University of California
person_outline Daniel Cohn's MOST POPULAR ARTICLES
1-) Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and …JC Marini, A Forlino, WA Cabral, AM Barnes, JD San Antonio, S Milgrom, ...Human mutation 28 (3), 209-221, 20076942007
2-) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ...Nature genetics 9 (3), 321-328, 19956741995
3-) Nosology and classification of genetic skeletal disorders: 2019 revisionGR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ...American journal of medical genetics Part A 179 (12), 2393-2419, 20195942019
4-) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneMD Briggs, SMG Hoffman, LM King, AS Olsen, H Mohrenweiser, JG Leroy, ...Nature genetics 10 (3), 330-336, 19955861995
5-) Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneA Colige, AL Sieron, SW Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, ...The American Journal of Human Genetics 65 (2), 308-317, 19994421999