Microarray analysis in pregnancies with isolated echogenic bowel

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown et al. · Genetics in Medicine · 2011 · 956 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 450 citations

Life Sciences, Genetics, Molecular Genetics +17

A cytogenetic survey of 11,680 newborn infants

Patricia A. Jacobs, Marie M. Melville, S G Ratcliffe et al. · Annals of Human Genetics · 1974 · 430 citations

Medicine, Genetics, Pediatrics +14

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Practice Bulletin No. 162

Obstetrics and Gynecology · 2016 · 306 citations

Health Professions, Health Sciences, Electronic Health Records +1