Maria Luisa Giovannucci Uzielli

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 500 citations · Full text

Medicine, Endocrinology, Genetics +15

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Identification of mutations in CUL7 in 3-M syndrome

Céline Huber, Dora Dias‐Santagata, Anna Glaser et al. · Nature Genetics · 2005 · 175 citations

Life Sciences, Genetics, Molecular Genetics +9

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

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer et al. · Human Molecular Genetics · 2008 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17