Karen Marks

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

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Helicobacter pylori infection rates in relation to age and social class in a population of Welsh men.

Freddy Sitas, D Forman, J. W. G. Yarnell et al. · Gut · 1991 · 203 citations · Full text

Veterinary Medicine, Infectious Diseases, Microbiology +12

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik et al. · American Journal of Medical Genetics Part A · 2009 · 128 citations

Life Sciences, Genetics, Molecular Genetics +15