Kevin D. Josephson

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nathaniel H. Robin, George Feldman, Adam Aronson et al. · Nature Genetics · 1995 · 123 citations

Life Sciences, Genetics, Molecular Genetics +8

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?

Amy R.U. Larson, Kevin D. Josephson, Richard M. Pauli et al. · American Journal of Medical Genetics · 2001 · 42 citations

Life Sciences, Genetics, Molecular Genetics +16

Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm

Marc S. Williams, Kevin D. Josephson, Nurcan Gursoy et al. · Genetics in Medicine · 2001 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Investigation of thermoregulatory characteristics in patients with Prader‐Willi syndrome

Marc S. Williams, Brenda L. Rooney, Janet L. Williams et al. · American Journal of Medical Genetics · 1994 · 38 citations

Medicine, Neuroscience, Pediatrics +14

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

Andrew L. Aswegan, Kevin D. Josephson, Rodney Cameron Mowbray et al. · American Journal of Medical Genetics · 1997 · 36 citations

Medicine, Dermatology, Genetics +12