TimothyWei-WenYuMD

PubMed

• 4 citations
  The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
  Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Hea...> ;Genetics in Medicine. 2022 Nov 1
• 2 citations
  Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders.
  Laura Cornelissen, Carolina Donado, Timothy W Yu, Charles B Berde> ;Frontiers in Neurology. 2022 Jan 1
• 3 citations
  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin S...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 14
• 27 citations
  Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
  Stacey Pereira, Hadley Stevens Smith, Leslie A. Frankel, Kurt D. Christensen, Rubaiya Islam, Jill O. Robinson, Casie A. Genetti, Carrie L. Blout Zawatsky, Bethany Zett...> ;JAMA Pediatrics. 2021 Nov 1
• 199 citations
  Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College o...
  Kandamurugu Manickam, Monica R. McClain, Laurie A. Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren J. Massingham, Danny Miller, Timothy W. Yu, Fu...> ;Genetics in Medicine. 2021 Jul 1
• 38 citations
  Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
  Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Rob...> ;Genetics in Medicine. 2021 Mar 26
• 24 citations
  Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
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• 11 citations
  Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
  Klaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N. Doan, R. Sean Hill, Maria H. Chahrour, Bhaven K. Mehta, Sarah Servattalab, Bulent Ataman, Anh Thu N. Lam, Eric M. Mo...> ;Scientific Reports. 2020 Aug 20
• 73 citations
  Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
  Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Par...> ;Genetics in Medicine. 2020 Apr 1
• 3 citations
  A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
  Alissa M. D'Gama, William J. Brucker, Tian Zhang, Cynthia S. Gubbels, Sacha Ferdinandusse, Jiahai Shi, Patricia Ellen Grant, Grace E. VanNoy, Casie A. Genetti, Jane Ju...> ;American Journal of Medical Genetics. Part A. 2020 Apr 1
• 25 citations
  Children's rare disease cohorts: an integrative research and clinical genomics initiative.
  Shira Rockowitz, Nicholas LeCompte, Mary Carmack, Andrew Quitadamo, Lily Wang, Meredith Park, Devon Knight, Emma Sexton, Lacey Smith, Beth Sheidley, Michael Field, Ing...> ;NPJ Genomic Medicine. 2020 Jan 1
• 363 citations
  Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
  Jinkuk Kim, Chunguang Hu, Christelle Moufawad El Achkar, Lauren E. Black, Julie Douville, Austin Larson, Mary K. Pendergast, Sara F. Goldkind, Eunjung Lee, Ashley Kuni...> ;The New England Journal of Medicine. 2019 Oct 9
• 8 citations
  Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The A...
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• 37 citations
  Infant mortality: the contribution of genetic disorders.
  Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, Heather Paterson, Rachel Stadelmaier, Thomas E. Mullen, Grace E. VanNoy, Casie A. Genetti, Jill A. Madden, Cynthia S...> ;Journal of Perinatology. 2019 Aug 8
• 17 citations
  De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
  Oguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R Braddock, Anne M Slavotinek, Julie S Cohen, Cynthia S Gubbels, Kimberly A Aldinger, Judy William...> ;American Journal of Human Genetics. 2019 Aug 1
• 81 citations
  Recessive gene disruptions in autism spectrum disorder.
  Ryan N. Doan, Elaine T. Lim, Silvia De Rubeis, Catalina Betancur, David J. Cutler, Andreas G. Chiocchetti, Lynne M. Overman, Aubrie Soucy, Susanne Goetze, Christine M....> ;Nature Genetics. 2019 Jun 17
• 47 citations
  Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
  Klaus Schmitz-Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden, Casie A. Genetti, Monica H. Wojcik, Sadhana Ponnaluri, Cynthia S. Gubbels, Jonathan Pic...> ;European Journal of Human Genetics. 2019 Apr 12
• 56 citations
  Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
  Casie A. Genetti, Talia S. Schwartz, Jill O. Robinson, Grace E. VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A. Peoples, Pankaj B. Agrawal, Wendi N. Bet...> ;Genetics in Medicine. 2019 Mar 1
• 134 citations
  Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
  Ozge Ceyhan-Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. ...> ;American Journal of Human Genetics. 2019 Jan 3
• 7 citations
  Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
  Jaclyn B. Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, Amy Kritzer, Joel B. Krier, Matthew S. Lebo, Shawn Fayer, Casie A. Genetti, Grace E. VanNoy, Timothy W. Yu, Pank...> ;Cold Spring Harbor Molecular Case Studies. 2018 Aug 1
• 97 citations
  The BabySeq project: implementing genomic sequencing in newborns
  Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L...> ;BMC Pediatrics. 2018 Jul 9
• microRNA profiling between Bacillus thuringiensis Cry1Ab-susceptible and -resistant European corn borer, Ostrinia nubilalis (Hübner).
  Yu, T.,Li, X.,Coates, B. S.,Zhang, Q.,Siegfried, B. D.,Zhou, X.> ;Insect Mol. Biol.. 2018 Feb 17
• 33 citations
  DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
  Ashley P L Marsh, Timothy J. Edwards, Charles A. Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava...> ;Human Mutation. 2018 Jan 1
• 92 citations
  The TRPA1 ion channel is expressed in CD4+ T cells and restrains T-cell-mediated colitis through inhibition of TRPV1
  Corr, M. P., Samuel Bertin, Yukari Aoki-Nonaka, Jihyung Lee, Petrus R. de Jong, Peter W. Kim, Tiffany Han, Timothy Yu, Keith To, Naoki Takahashi, Brigid S. Boland, Joh...> ;Gut. 2017 Sep 1
• 32 citations
  Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
  Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, R. Sean Hill, Michael E. Coulter, Anh Thu N. Lam, Divya Jayaraman, D...> ;Genome Research. 2017 Aug 1
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