DavidHarrisonTegayDOFACMG, FACOI

PubMed

• 3 citations
  Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
  Norma P Tavakoli, Dorota Gruber, Niki Armstrong, Wendy K Chung, Breanne Maloney, Sunju Park, Julia Wynn, Carrie Koval-Burt, Lorraine Verdade, David H Tegay, Lilian L C...> ;Annals of Clinical and Translational Neurology. 2023 Aug 1
• 1 citations
  Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
  Johnny Loke, Ishraq Alim, Sarah Yam, Susan Klugman, Li C Xia, Dorota Gruber, David Tegay, Andrea LaBella, Kenan Onel, Harry Ostrer> ;HGG Advances. 2022 Apr 14
• 7 citations
  Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
  Julia Wynn, Norma P Tavakoli, Niki Armstrong, Jacqueline Gomez, Carrie Koval, Christina Lai, Stephanie Tang, Andrea Quevedo Prince, Yeyson Quevedo, Katrina Rufino, Lau...> ;International Journal of Neonatal Screening. 2022 Mar 22
• 17 citations
  Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
  Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin, Ingr...> ;European Journal of Human Genetics. 2020 May 6
• 9 citations
  Precision oncology: lessons learned and challenges for the future.
  Hsih Te Yang, Ronak Shah, David Tegay, Kenan Onel> ;Cancer Management and Research. 2019 Aug 7
• 6 citations
  Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study
  Bhuma Krishnamachari, Mahin Rehman, Jason E. Cohn, Vivian Chan, Neil Modi, Ofri Leitner, Kelly Tangney, April O’Connor, William Blazey, Sharon Koehler, David Tegay> ;Journal of Cancer Education. 2018 Dec 1
• 4 citations
  Acceptance of technology-based tools in a sample of Parkinson’s patients
  Nathalie Duroseau, Tobi Abramson, Kathleen Pergament, Vivian Chan, John Paul Govindavari, Christina Ciraco, David Tegay, Bhuma Krishnamachari> ;Chronic Illness. 2017 Mar 1
• 10 citations
  SCN8A mutation in a child presenting with seizures and developmental delays
  Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth D. Ward, Justine Coppinger, Lesa Nelson, Miriam H. Meisler, Kai Wang, Reid J. Robison, Gholson J. Lyon> ;Cold Spring Harbor Molecular Case Studies. 2016 Nov 1
• 14 citations
  KBG syndrome involving a single-nucleotide duplication in ANKRD11 .
  Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth D. Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Gholson J. Lyon> ;Cold Spring Harbor Molecular Case Studies. 2016 Nov 1
• 11 citations
  Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing
  Jason E Cohn, William Blazey, David Tegay, Brian Harper, Sharon Koehler, Brookshield Laurent, Vivian Chan, Min-Kyung Jung, Bhuma Krishnamachari> ;Journal of Cancer Education. 2015 Sep 1
• 80 citations
  De novo mutations in beta - catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
  Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht, Carlos A. Bacino, Dennis Bartholomew, Hans van Bokhoven, Marie José H. Van Den Boogaard, Nuria C. Bramswig, Chri...> ;Human Genetics. 2015 Jan 1
• 1 citations
  Physician knowledge of ethnicity specific differences in BRCA genetic testing.
  Jason E Cohn, William Blazey, David Tegay, Brian Harper, Sharon Koehler, Brookshield Laurent, Vivian Chan, Min-Kyung Jung, Bhuma Krishnamachari> ;The Breast Journal. 2014 Nov 1
• 5 citations
  Impact of Academic Affiliation and Training on Knowledge of Hereditary Colorectal Cancer
  Vivian Chan, William Blazey, David Tegay, Brian Harper, Sharon Koehler, Brookshield Laurent, Seth Lipka, Jason E. Cohn, Min-Kyung Jung, Bhuma Krishnamachari> ;Public Health Genomics. 2014 Apr 24
• 5 citations
  No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders
  Eveline Boudin, Karen Jennes, Fenna de Freitas, David Tegay, Geert Mortier, Wim Van Hul> ;Bone. 2013 Jul 1
• 3 citations
  Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
  Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Tammy Tsuchida, Beth A. Pletcher, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Kurt Hi...> ;Genetics in Medicine. 2012 May 31
• 57 citations
  Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
  Claus-Eric Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillén-Navarro, Claudia M. Haase, Juergen Kohlhase, Dieter Kot...> ;Human Mutation. 2010 Jun 3
• 19 citations
  Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia,...
  Stephen R. Williams, Santhosh Girirajan, David Tegay, Norma J. Nowak, Eli Hatchwell, Sarah H. Elsea> ;Journal of Medical Genetics. 2010 Apr 1
• 124 citations
  Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
  Ludwine Messiaen, S. Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer, Emily Spencer, Pamela Arn, Dusica Babovic-Vuksanovic, Carolyn Bay, Gary Bo...> ;JAMA. 2009 Nov 18
• 25 citations
  Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
  David Tegay, KK Chan, L Leung, C. Wang, Sandra Burkett, Gary Stone, Roscoe Stanyon, H. V. Toriello, Eli Hatchwell> ;Clinical Genetics. 2009 Mar 1
• 13 citations
  Bronchial anomalies in VACTERL association.
  Adaobi Kanu, David Tegay, Richard J. Scriven> ;Pediatric Pulmonology. 2008 Sep 1
• 13 citations
  A De Novo Apparently Balanced Translocation [46,XY,t(2;9)(p13;p24)] Interrupting RAB11FIP5 Identifies a Potential Candidate Gene for Autism Spectrum Disorder
  Jasmin Roohi, David Tegay, John Pomeroy, Sandra Burkett, Gary Stone, Roscoe Stanyon, Eli Hatchwell> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2008 Jun 5
• 112 citations
  Disruption of contactin 4 in three subjects with autism spectrum disorder.
  Jasmin Roohi, Cristina Montagna, David Tegay, Lance E. Palmer, Carla J. DeVincent, John Pomeroy, Susan L. Christian, Norma J. Nowak, Eli Hatchwell> ;Journal of Medical Genetics. 2008 Mar 18
• 16 citations
  Trisomy 2 mosaicism in hypomelanosis of Ito.
  Shruti Gupta, Shetal Shah, Ali Mcgaw, Theresa Mercado, Ann-Leslie Zaslav, David Tegay> ;American Journal of Medical Genetics. Part A. 2007 Oct 15
• 18 citations
  Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
  David Tegay, Andrew H. Lane, Jasmin Roohi, Eli Hatchwell> ;American Journal of Medical Genetics. Part A. 2007 Mar 15
• 6-Mercaptopurine teratogenicity.
  Tegay, D. H., Tepper, R., Willner, J. P.> ;Postgrad Med J. 2002 Sep
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