David Rodriguez‐Buritica

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Hope Northrup, Mary E. Aronow, E. Martina Bebin et al. · Pediatric Neurology · 2021 · 705 citations · Full text

Medicine, Genetics, Neurology +14

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Anu Bashamboo, Caroline Eozénou, Anne Jørgensen et al. · The American Journal of Human Genetics · 2018 · 103 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Julie Hoover‐Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi et al. · Genetics in Medicine · 2021 · 78 citations · Full text

Medicine, Pediatrics, Surgery +15

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

Julie Hoover‐Fong, Kerry Schulze, Adekemi Yewande Alade et al. · Orphanet Journal of Rare Diseases · 2021 · 56 citations · Full text

Medicine, Human Development, Pediatrics +17