Mary Beth Dinulos

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro et al. · The American Journal of Human Genetics · 2003 · 625 citations · Full text

Developmental Biology, Mendelian Disorder, Mutations Cause +8

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

Richa Saxena, Laura Brown, Trevor Hawkins et al. · Nature Genetics · 1996 · 438 citations

Chromatin, Developmental Biology, Daz Gene Cluster +9

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 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Mouse Autosomal Homolog ofDAZ,a Candidate Male Sterility Gene in Humans, Is Expressed in Male Germ Cells before and after Puberty

Renee A. Reijo Pera, Judith Seligman, Mary Beth Dinulos et al. · Genomics · 1996 · 145 citations

Spermatogenesis, Genetics, Molecular Genetics +16

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 108 citations · Full text