Constance Wells

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 90 citations · Full text

Intellectual Impairment, Corticobasal Degeneration, Neurological Disorder +7

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 52 citations

Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology

Jean Michel Faure, E. Mousty, M. Bigorre et al. · Prenatal Diagnosis · 2020 · 36 citations

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

Amélie Chaussade, Gaël A. Millot, Constance Wells et al. · European Journal of Medical Genetics · 2018 · 30 citations · Full text

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Sophia Cameron‐Christie, Constance Wells, Marleen Simon et al. · The American Journal of Human Genetics · 2018 · 28 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7