Carolyn Dunn

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw‐Smith, Alan Pittman, Lionel Willatt et al. · Nature Genetics · 2006 · 372 citations

Life Sciences, Genetics, Molecular Genetics +16

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in<i>ATM</i>,<i>BRCA1</i>,<i>BRCA2</i>,<i>CHEK2</i>, and<i>PALB2</i>

Siddhartha Yadav, Nicholas Boddicker, Jie Na et al. · Journal of Clinical Oncology · 2023 · 173 citations · Full text

Medicine, Oncology, Breast Oncology +16

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

Jill Clayton‐Smith, Carol Giblin, R. A. Smith et al. · Clinical Dysmorphology · 2010 · 67 citations

Life Sciences, Genetics, Molecular Genetics +17

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha et al. · Nature Communications · 2021 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12