Patricia G. Wheeler

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova et al. · The American Journal of Human Genetics · 2002 · 245 citations · Full text

North American Cohort, Mendelian Disorder, Genetic Disorder +10

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark et al. · Oncotarget · 2011 · 169 citations · Full text

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25