Joanne M. Drautz

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 185 citations · Full text

Exonic Deletions, Developmental Biology, Molecular Neuroscience +7

Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol J. Gallione, Arthur S. Aylsworth, Jill Beis et al. · American Journal of Medical Genetics Part A · 2010 · 147 citations

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski et al. · Human Genetics · 2013 · 73 citations · Full text

Developmental Anomaly, Severe Psychomotor Retardation, Developmental Biology +9

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio et al. · American Journal of Medical Genetics Part A · 2011 · 48 citations · Full text

A new hypothesis of OCA1B

Pei‐Wen Chiang, Joanne M. Drautz, Anne Chun‐Hui Tsai et al. · American Journal of Medical Genetics Part A · 2008 · 18 citations

New Hypothesis, Unicellular Organism, Astrochemistry +4