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 · 92 citations

Life Sciences, Neurology, Neuroscience +12

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 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 37 citations

Medicine, Obstetrics, Plastic Surgery +13

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 · 31 citations · Full text

Medicine, Genetics, Oncology +17

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 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11