David S. Wargowski

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 275 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind et al. · The American Journal of Human Genetics · 1999 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Schimke immuno-osseous dysplasia: A newly recognized multisystem disease

Jürgen W. Spranger, Georg Klaus Hinkel, W. Thoenes et al. · The Journal of Pediatrics · 1991 · 116 citations

Medicine, Immunology, Pathology +9

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Marjorie Rosenberg, Christina Killoran, Laura Dziadzio et al. · Human Genetics · 2001 · 86 citations

Life Sciences, Genetics, Molecular Genetics +16

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

Maurice Godfrey, Natalie Vandemark, Mei Wang et al. · PubMed · 1993 · 71 citations

Life Sciences, Genetics, Molecular Genetics +13