David Goudie

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Alan D. Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao et al. · Nature Genetics · 2006 · 3K citations

Medicine, Dermatology, Genetics +16

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski et al. · Nature Genetics · 2006 · 1K citations

Life Sciences, Genetics, Molecular Genetics +9

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

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 362 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick et al. · The American Journal of Human Genetics · 2001 · 325 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +11