Mira Irons

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

Life Sciences, Genetics, Pediatrics +15

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders

Michael S. Ching, Yiping Shen, Wen‐Hann Tan et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2010 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho et al. · The American Journal of Human Genetics · 2009 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15