Katie Clarkson

<i>AGTR2</i> Mutations in X-Linked Mental Retardation

Virginie Vervoort, Michael A. Beachem, Penny S. Edwards et al. · Science · 2002 · 719 citations

Natural Sciences, Physics, Biophotonics +16

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of <i>MECP2</i> and Adjacent Region in Xq28

Michael J. Friez, Julie R. Jones, Katie Clarkson et al. · PEDIATRICS · 2006 · 190 citations

Life Sciences, Genetics, Molecular Genetics +17

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman et al. · Clinical Epigenetics · 2019 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15