David J. Aughton

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 277 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Linlea Armstrong, Azza Abd El Monéim, Kirk Aleck et al. · American Journal of Medical Genetics Part A · 2004 · 103 citations

Life Sciences, Genetics, Molecular Genetics +17

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

X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

David J. Aughton, Richard I. Kelley, Vincent Pureza et al. · American Journal of Medical Genetics Part A · 2002 · 65 citations

Life Sciences, Genetics, Molecular Genetics +13

Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21

Ute Schell, Johannes Wienberg, Angelika Köhler et al. · Human Molecular Genetics · 1996 · 60 citations

Life Sciences, Genetics, Molecular Genetics +12