Lynn Pais

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

Lynn Pais, Hana Snow, Ben Weisburd et al. · Human Mutation · 2022 · 109 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faùndes et al. · The American Journal of Human Genetics · 2019 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17