Mark J. Daly

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Lauren A. Weiss, Yiping Shen, Joshua M. Korn et al. · New England Journal of Medicine · 2008 · 1.7K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil H. Lee, Verneri Anttila, Hyejung Won et al. · Cell · 2019 · 1.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang et al. · Nature Communications · 2020 · 191 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Aleksejs Sazonovs, Christine Stevens, Guhan Venkataraman et al. · Nature Genetics · 2022 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Qingbo S. Wang, Emma Pierce‐Hoffman, Beryl B. Cummings et al. · Nature Communications · 2020 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14