Dr. Timothy Yu, MD

• Genetics

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• Children's Hospital Boston

  Fellowship Hospital

• Massachusetts General Hospital

  Internship Hospital, 2004

• University Of California, San Francisco School Of Medicine

  Medical School, 2003

• Infant Mortality: the Contribution of Genetic Disorders, 2019-08-08

• Recessive gene disruptions in autism spectrum disorder, 2019-06-17

• 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, 2016-02-16

• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci, 2015-09-23

• Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number, 2014-12-17

• Discordant Results Between Conventional Newborn Screening and Genomic Sequencing in the BabySeq Project, 2021-03-26

• Reconciling newborn screening and a novel splice variant inBTDassociated with partial biotinidase deficiency: a BabySeq Project case report BabySeq BTD case report, 2018-08-01

• Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication, 2015-08-22

• Mutations inWDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture, 2010-10-03

• Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism, 2012-04-12

• Consensus Guidelines for the Design andIn VitroPreclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides EXON SKIPPING GUIDELINES FOR N-OF-1 ASO s, 2023-02-01

• CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry, 2022-09-06

• Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield, 2019-11-29

• Common genetic variants, acting additively, are a major source of risk for autism, 2012-10-15

• Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2, 2014-05-12

• Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders, 2022-02-10

• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factorDONSONas the cause of microcephaly-micromelia syndrome Mutation of genome replication factorDONSON, 2017-08-01

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge, 2014-03-25

• Multiple recurrentde novocopy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism, 2011-06-09

• DCCmutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome, 2017-11-11

• Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait, 2013-06-06

• Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex and cell fate, 2016-10-27

• A framework for individualized splice-switching oligonucleotide therapy, 2023-07-12

• The BabySeq project: implementing genomic sequencing in newborns, 2018-07-09

• A genomewide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?, 2014-09-30

• Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder, 2020-08-20

• Mutation ofKCNJ8in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition, 2013-10-28

• Children's rare disease cohorts: an integrative research and clinical genomics initiative, 2020-07-06

• Integrating rapid exome sequencing into NICU clinical care after a pilot research study, 2022-09-05

• The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States, 2016-10-06

• Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project, 2018-09-13

• Synaptic, transcriptional, and chromatin genes disrupted in autism, 2014-10-29

• BRAT1Mutations Present with a Spectrum of Clinical Severity, 2016-06-09

• Exome sequencing identifies a novelSMCHD1mutation in facioscapulohumeral muscular dystrophy 2, 2013-08-31

• Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior, 2021-03-03

• Biallelic Mutations In HumanDCCCause Developmental Split Brain Syndrome, 2017-02-27