Timothy Yu, MD, PhD
Attending Physician, Division of Genetics and Genomics
Associate Professor of Pediatrics, Harvard Medical School
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Timothy Yu, MD, PhD
Attending Physician, Division of Genetics and Genomics
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Harvard College
1994
Boston
MA
Graduate School
University of California, San Francisco
San Francisco
CA
Medical School
University of California, San Francisco
San Francisco
CA
Internship
Massachusetts General Hospital
Boston
MA
Residency
Massachusetts General Hospital & Brigham and Women's Hospital
Boston
MA
Fellowship
Massachusetts General Hospital & Boston Children's Hospital
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Neurology)
Publications
The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK. View Abstract
The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing. View Abstract
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. View Abstract
Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons. View Abstract
Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review. View Abstract
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. View Abstract
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap. View Abstract
Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death. View Abstract
Epigenomic and phenotypic characterization of DEGCAGS syndrome. View Abstract
N-of-1 Studies in an Era of Precision Medicine. View Abstract
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront. View Abstract
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. View Abstract
Response to Horta et al. View Abstract
How to pay for individualized genetic medicines. View Abstract
"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. View Abstract
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. View Abstract
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. View Abstract
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. View Abstract
A Multistakeholder Perspective on Advancing Individualized Therapeutics. View Abstract
A framework for individualized splice-switching oligonucleotide therapy. View Abstract
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. View Abstract
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. View Abstract
Are we prepared to deliver gene-targeted therapies for rare diseases? View Abstract
Data sharing to advance gene-targeted therapies in rare diseases. View Abstract
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides. View Abstract
Whole-genome sequencing holds the key to the success of gene-targeted therapies. View Abstract
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry. View Abstract
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models. View Abstract
Oligonucleotides and N?=?1 Therapeutics: From the Patient Perspective to Chemistry, Manufacturing, and Control. View Abstract
Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders. View Abstract
A solid start for gene therapy in Tay-Sachs disease. View Abstract
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. View Abstract
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. View Abstract
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. View Abstract
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. View Abstract
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. View Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. View Abstract
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. View Abstract
Infant mortality: the contribution of genetic disorders. View Abstract
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. View Abstract
Recessive gene disruptions in autism spectrum disorder. View Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. View Abstract
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. View Abstract
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. View Abstract
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. View Abstract
The BabySeq project: implementing genomic sequencing in newborns. View Abstract
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. View Abstract
Rare variant association test in family-based sequencing studies. View Abstract
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. View Abstract
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. View Abstract
Biallelic mutations in human DCC cause developmental split-brain syndrome. View Abstract
From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. View Abstract
Newborn Sequencing in Genomic Medicine and Public Health. View Abstract
A curated gene list for reporting results of newborn genomic sequencing. View Abstract
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. View Abstract
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. View Abstract
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. View Abstract
BRAT1 mutations present with a spectrum of clinical severity. View Abstract
Orthogonal NGS for High Throughput Clinical Diagnostics. View Abstract
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. View Abstract
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. View Abstract
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. View Abstract
Katanin p80 regulates human cortical development by limiting centriole and cilia number. View Abstract
Synaptic, transcriptional and chromatin genes disrupted in autism. View Abstract
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? View Abstract
Autism and fragile X syndrome. View Abstract
Somatic mutations in cerebral cortical malformations. View Abstract
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. View Abstract
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. View Abstract
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. View Abstract
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. View Abstract
METTL23, a transcriptional partner of GABPA, is essential for human cognition. View Abstract
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. View Abstract
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. View Abstract
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. View Abstract
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. View Abstract
Cardiac expression of human type 2 iodothyronine deiodinase increases glucose metabolism and protects against doxorubicin-induced cardiac dysfunction in male mice. View Abstract
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. View Abstract
Using whole-exome sequencing to identify inherited causes of autism. View Abstract
Common genetic variants, acting additively, are a major source of risk for autism. View Abstract
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. View Abstract
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. View Abstract
FLNA genomic rearrangements cause periventricular nodular heterotopia. View Abstract
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. View Abstract
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. View Abstract
Education research: A program perspective on learning how to teach. View Abstract
Thrombotic intracranial aneurysms: classification scheme and management strategies in 68 patients. View Abstract
Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase. View Abstract
The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM. View Abstract
Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function. View Abstract
Dynamic regulation of axon guidance. View Abstract
C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor. View Abstract
Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus. View Abstract