Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F Morel, Jordan Lerner-Ellis
Journal of Medical Genetics Apr 2021, 58 (4) 275-283; DOI: 10.1136/jmedgenet-2020-106936