Tiffany Busa

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart et al. · The American Journal of Human Genetics · 2014 · 138 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand et al. · Molecular Psychiatry · 2020 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +17