Timothy Yu - IDDRC

Timothy Yu, MD, PhD

Attending Physician, Division of Genetics and Genomics, Boston Children's Hospital; Assistant Professor in Pediatrics, Harvard Medical School.

Research Focus

Genetic underpinnings of disorders of human neurodevelopment, translation into better patient care.

Brief Research Description

The Yu lab works at the intersection of population genetics, bioinformatics, and neurobiology to study neurodevelopmental disorders and advance genomic medicine. Current projects range from computational analyses of large WES/WGS datasets for autism gene discovery, investigations of genome sequencing for newborn screening and neonatal ICU care, and the advancement of strategies for individualized genomic medicine for rare pediatric disorders.

Key Publications (PMCIDs)

Recessive gene disruptions in autism spectrum disorder.
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Autism Sequencing Consortium, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW.
Nat Genet 2019;51(7):1092-8. PMCID: PMC6629034.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW.
N Engl J Med 2019;381(17):1644-52.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Gubbels CS, et al.
Genet Med 2019. PMID 31780822

Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.
Nat Genet 2017;49(4):606-12. PMCID: PMC5374027.

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