Sally J. Kochmar

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Jie Hu, Jun Liao, Malini Sathanoori et al. · Journal of Neurodevelopmental Disorders · 2015 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

THE USE OF INTERPHASE FISH FOR PRENATAL DIAGNOSIS OF PALLISTER–KILLIAN SYNDROME

Patricia Mowery‐Rushton, Mona Penles Stadler, Sally J. Kochmar et al. · Prenatal Diagnosis · 1997 · 33 citations

Life Sciences, Cell Biology, Pathology +13

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome

Elizabeth W. McPherson, Giovanni Laneri, Michele Clemens et al. · American Journal of Medical Genetics · 1997 · 24 citations

Life Sciences, Genetics, Pediatrics +15

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders

Jie Hu, Malini Sathanoori, Sally J. Kochmar et al. · American Journal of Medical Genetics Part A · 2015 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17

Co‐existence of 9p deletion and Silver‐Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11

Jie Hu, Malini Sathanoori, Sally J. Kochmar et al. · American Journal of Medical Genetics Part A · 2012 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17