Sandra Whalen

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

FXTAS

Emmanuelle Apartis, Anne Blancher, Wassilios G. Meissner et al. · Neurology · 2012 · 175 citations

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 170 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19