Sam Loughlin

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

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Veronica A. Kinsler, Anna Thomas, Miho Ishida et al. · Journal of Investigative Dermatology · 2013 · 346 citations · Full text

Medicine, 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

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch et al. · Proceedings of the National Academy of Sciences · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

Tariq Al Shehri, Kimberly Gilmour, Florian Gothe et al. · Journal of Clinical Immunology · 2019 · 34 citations

Life Sciences, Molecular Biology, Molecular Medicine +8