Catherine L. Mercer

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 370 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer et al. · The American Journal of Human Genetics · 2014 · 187 citations · Full text

Life Sciences, Cardiology, Genetics +17

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 183 citations · Full text

Life Sciences, Developmental Biology, Genetics +15

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14