Harvard Catalyst Profiles

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Tim W. Yu, M.D., Ph.D.

Co-Author

This page shows the publications co-authored by Tim Yu and Alan Beggs.
Connection Strength

1.776
  1. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040.
    View in: PubMed
    Score: 0.238
  2. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744.
    View in: PubMed
    Score: 0.218
  3. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652.
    View in: PubMed
    Score: 0.216
  4. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225.
    View in: PubMed
    Score: 0.198
  5. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17.
    View in: PubMed
    Score: 0.143
  6. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82.
    View in: PubMed
    Score: 0.143
  7. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375.
    View in: PubMed
    Score: 0.060
  8. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.
    View in: PubMed
    Score: 0.057
  9. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29.
    View in: PubMed
    Score: 0.057
  10. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405.
    View in: PubMed
    Score: 0.052
  11. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93.
    View in: PubMed
    Score: 0.051
  12. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630.
    View in: PubMed
    Score: 0.050
  13. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4).
    View in: PubMed
    Score: 0.050
  14. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2).
    View in: PubMed
    Score: 0.045
  15. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818.
    View in: PubMed
    Score: 0.045
  16. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008.
    View in: PubMed
    Score: 0.043
  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 May; 170A(5):1165-73.
    View in: PubMed
    Score: 0.042
  18. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
    View in: PubMed
    Score: 0.037
  19. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7.
    View in: PubMed
    Score: 0.033
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.