Genome Sequencing for Diagnosing Rare Diseases

Wojcik, M. H., Lemire, G., Berger, E., Zaki, M. S., Wissmann, M., Win, W., White, S. M., Weisburd, B., Wieczorek, D., Waddell, L. B., Verboon, J. M., VanNoy, G. E., Töpf, A., Tan, T. Y., Syrbe, S., Strehlow, V., Straub, V., Stenton, S. L., Snow, H., … O’Donnell-Luria, A. (2024). Genome Sequencing for Diagnosing Rare Diseases. New England Journal of Medicine, 390(21), 1985–1997. https://doi.org/10.1056/nejmoa2314761

Authors:

Monica H Wojcik

Gabrielle Lemire

Eva Berger

Maha S Zaki

Mariel Wissmann

Wathone Win

Susan M White

Ben Weisburd

Dagmar Wieczorek

Leigh B Waddell

Jeffrey M Verboon

Grace E VanNoy

Ana Töpf

Tiong Yang Tan

Steffen Syrbe

Vincent Strehlow

Volker Straub

Sarah L Stenton

Hana Snow

Moriel Singer-Berk

Josh Silver

Shirlee Shril

Eleanor G Seaby

Ronen Schneider

Vijay G Sankaran

Alba Sanchis-Juan

Kathryn A Russell

Karit Reinson

Gianina Ravenscroft

Maximilian Radtke

Denny Popp

Tilman Polster

Konrad Platzer

Eric A Pierce

Emily M Place

Sander Pajusalu

Lynn Pais

Katrin Õunap

Ikeoluwa Osei-Owusu

Henry Opperman

Volkan Okur

Kaisa Teele Oja

Melanie O&#039;Leary

Emily O&#039;Heir

Chantal F Morel

Andreas Merkenschlager

Rhett G Marchant

Brian E Mangilog

Jill A Madden

Daniel MacArthur

Alysia Lovgren

Jordan P Lerner-Ellis

Jasmine Lin

Nigel Laing

Friedhelm Hildebrandt

Julia Hentschel

Emily Groopman

Julia Goodrich

Joseph G Gleeson

Roula Ghaoui

Casie A Genetti

Janina Gburek-Augustat

Hanna T Gazda

Vijay S Ganesh

Mythily Ganapathi

Lyndon Gallacher

Jack M Fu

Emily Evangelista

Eleina England

Sandra Donkervoort

Stephanie DiTroia

Sandra T Cooper

Wendy K Chung

John Christodoulou

Katherine R Chao

Liam D Cato

Kinga M Bujakowska

Samantha J Bryen

Harrison Brand

Carsten G Bönnemann

Alan H Beggs

Samantha M Baxter

Tobias Bartolomaeus

Pankaj B Agrawal

Michael Talkowski

Christina Austin-Tse

Rami Abou Jamra

Heidi L Rehm

Anne O&#039;Donnell-Luria

Affiliated Authors: