Chad Haldeman‐Englert

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh, Xiaowu Gai, Juan C. Perín et al. · Genome Research · 2009 · 389 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

Molly B. Sheridan, Takema Kato, Chad Haldeman‐Englert et al. · The American Journal of Human Genetics · 2010 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +7

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day et al. · The American Journal of Human Genetics · 2013 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai et al. · Human Molecular Genetics · 2009 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16