Lynn Pais

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

<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 · 105 citations · Full text

Causal Variants, Web‐based Analysis, Genetics +23

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

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

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 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

POLRMT mutations impair mitochondrial transcription causing neurological disease

Monika Oláhová, Bradley Peter, Zsolt Szilágyi et al. · Nature Communications · 2021 · 57 citations · Full text