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Biology and Biochemistry

D-Index
57
Citations
26386
World Ranking
13514
National Ranking
5731

Overview

Timothy W. Yu is affiliated with Boston Children's Hospital in the United States. Their research primarily spans the fields of biochemistry, genetics, molecular biology, and medicine, with a significant focus on genetics and molecular biology. The scientist has contributed extensively in areas including genetics, molecular biology, pulmonary and respiratory medicine, epidemiology, and physiology.

The main topics of their work include genomics and rare diseases, genetics and neurodevelopmental disorders, CRISPR and genetic engineering, genomic variations and chromosomal abnormalities, neurogenetic and muscular disorders research, congenital heart defects research, and DNA repair mechanisms.

Timothy W. Yu has published multiple papers in various scientific venues. Frequent publication venues include:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • The American Journal of Human Genetics
  • Nature Medicine

Some of their recent papers are:

  • "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)," 2021, Genetics in Medicine
  • "Recent ultra-rare inherited variants implicate new autism candidate risk genes," 2021, Nature Genetics
  • "A framework for individualized splice-switching oligonucleotide therapy," 2023, Nature
  • "Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project," 2021, Genetics in Medicine
  • "Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior," 2021, Genetics in Medicine

Collaborative work is a notable aspect of their scientific output, with frequent coauthors including:

  • Pankaj B. Agrawal
  • Casie A. Genetti
  • Alan H. Beggs
  • Robert C. Green
  • Aubrie Soucy

This combination of research topics, publication venues, and collaborative links situates Timothy W. Yu at the intersection of genetics, molecular biology, and clinical medicine, with a particular emphasis on the study of rare and complex genetic conditions affecting pediatric populations.

Best Publications

  • Synaptic, transcriptional and chromatin genes disrupted in autism

    Silvia De Rubeis;Xin-Xin He;Arthur P Goldberg;Christopher S. Poultney

  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus

    Jack M. Parent;Timothy W. Yu;Rebecca T. Leibowitz;Daniel H. Geschwind

  • Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

    Stephan J. Sanders;Xin He;A. Jeremy Willsey;A. Gulhan Ercan-Sencicek

  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    Colm O'Dushlaine;Lizzy Rossin;Phil H. Lee;Laramie Duncan;Laramie Duncan

  • Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

    Jinkuk Kim;Chunguang Hu;Christelle Moufawad El Achkar;Lauren E. Black

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  • Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

    Timothy W. Yu;Maria H. Chahrour;Michael E. Coulter;Sarn Jiralerspong

  • A proprotein convertase subtilisin/kexin type 9 neutralizing antibody reduces serum cholesterol in mice and nonhuman primates.

    Joyce C. Y. Chan;Derek E. Piper;Qiong Cao;Dongming Liu

  • Dynamic regulation of axon guidance.

    Timothy W. Yu;Cornelia I. Bargmann

  • Common genetic variants, acting additively, are a major source of risk for autism

    Lambertus Klei;Stephan J Sanders;Michael T Murtha;Vanessa Hus

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

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Somatic mutations in cerebral cortical malformations

    Saumya S. Jamuar;Anh Thu N Lam;Martin Kircher;Alissa M. D'Gama

  • 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).

    Kandamurugu Manickam;Kandamurugu Manickam;Monica R. McClain;Laurie A. Demmer;Sawona Biswas

  • Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

    Timothy W Yu;Ganeshwaran H Mochida;David J Tischfield;Sema K Sgaier

  • C. elegans Slit Acts in Midline, Dorsal-Ventral, and Anterior-Posterior Guidance via the SAX-3/Robo Receptor

    Joe C Hao;Timothy W Yu;Kazuko Fujisawa;Joseph G Culotti

  • The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM.

    Zemer Gitai;Timothy W. Yu;Erik A. Lundquist;Marc Tessier-Lavigne

Frequent Co-Authors

Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Alan H. Beggs
Alan H. Beggs Harvard Medical School
Ingrid A. Holm
Ingrid A. Holm Boston Children's Hospital
Matthew W. State
Matthew W. State University of California, San Francisco
Robert C. Green
Robert C. Green Brigham and Women's Hospital
Eric M. Morrow
Eric M. Morrow Brown University
Bernie Devlin
Bernie Devlin University of Pittsburgh
Daniel H. Geschwind
Daniel H. Geschwind University of California, Los Angeles
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago
Lambertus Klei
Lambertus Klei University of Pittsburgh

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