Rebecca Willaert

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

Richard A. King, Rebecca Willaert, Ramona M. Schmidt et al. · The American Journal of Human Genetics · 2003 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>GABBR2</i> mutations determine phenotype in rett syndrome and epileptic encephalopathy

Yongjin Yoo, Jane Jung, Yoo‐Na Lee et al. · Annals of Neurology · 2017 · 85 citations · Full text

Life Sciences, Genetics, Neuroscience +17

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur, Megan T. Cho, Lindsay B. Henderson et al. · Human Genetics · 2016 · 84 citations

Medicine, Genetics, Molecular Genetics +14