Janet M. Legare

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Aman George, Dina J. Zand, Robert B. Hufnagel et al. · The American Journal of Human Genetics · 2016 · 88 citations · Full text

Biallelic Mutations, Mendelian Disorder, Disease Mechanism +8

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 · 65 citations · Full text

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 · 53 citations · Full text

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Oliver Semler, Valérie Cormier‐Daire, Ekkehart Lausch et al. · Advances in Therapy · 2023 · 27 citations · Full text

<scp>CLARITY</scp>: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

Janet M. Legare, Richard M. Pauli, Jacqueline T. Hecht et al. · American Journal of Medical Genetics Part A · 2021 · 21 citations