Cathy A. Stevens

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Alan F. Rope, Kai Wang, Rune Evjenth et al. · The American Journal of Human Genetics · 2011 · 260 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn et al. · American Journal of Medical Genetics Part A · 2006 · 148 citations · Full text

Medicine, Neurology, Neuroscience +17

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Cynthia A. Moore, Helga V. Toriello, Dianne Abuelo et al. · American Journal of Medical Genetics · 1997 · 146 citations

Medicine, Developmental Biology, Pediatrics +9

<i>PHOX2B</i> Mutation–confirmed Congenital Central Hypoventilation Syndrome

Nick A. Antic, Beth A. Malow, Neale Lange et al. · American Journal of Respiratory and Critical Care Medicine · 2006 · 132 citations

Medicine, Molecular Medicine, Pediatrics +7