Kay Metcalfe

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

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon et al. · Nature Genetics · 2016 · 467 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith et al. · The American Journal of Human Genetics · 1999 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

GTF2IRD1 in Craniofacial Development of Humans and Mice

May Tassabehji, Peter Hammond, Annette Karmiloff‐Smith et al. · Science · 2005 · 204 citations

Life Sciences, Genetics, Molecular Genetics +17