Publications by authors named "David Tegay"

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Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Norma P Tavakoli, Dorota Gruber, Niki Armstrong, Wendy K Chung, Breanne Maloney, David H Tegay

Ann Clin Transl Neurol· August 2023

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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, David Tegay

HGG Adv· April 2022

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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, David H Tegay

Int J Neonatal Screen· March 2022

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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, David H Tegay

Eur J Hum Genet· September 2020

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Precision oncology: lessons learned and challenges for the future.
Hsih-Te Yang, Ronak H Shah, David Tegay, Kenan Onel

Cancer Manag Res· August 2019

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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, David Tegay

J Cancer Educ· December 2018

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Acceptance of technology-based tools in a sample of Parkinson's patients.
Nathalie Duroseau, Tobi Abramson, Kathleen Pergament, Vivian Chan, John Paul Govindavari, David Tegay

Chronic Illn· March 2017

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mutation in a child presenting with seizures and developmental delays.
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward

Cold Spring Harb Mol Case Stud· November 2016

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KBG syndrome involving a single-nucleotide duplication in .
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan

Cold Spring Harb Mol Case Stud· November 2016

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Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing.
Jason Cohn, William Blazey, David Tegay, Brian Harper, Sharon Koehler

J Cancer Educ· September 2015

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Physician knowledge of ethnicity specific differences in BRCA genetic testing.
Jason Cohn, William Blazey, David Tegay, Brian Harper, Sharon Koehler

Breast J· June 2015

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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 W Bartholomew, David H Tegay

Hum Genet· January 2015

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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

Bone· July 2013

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum

Genet Med· September 2012

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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Claus E Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G Brunner, David H Tegay

Hum Mutat· August 2010

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Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
Stephen R Williams, Santhosh Girirajan, David Tegay, Norma Nowak, Eli Hatchwell

J Med Genet· April 2010

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen, Suxia Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, David Tegay

JAMA· November 2009

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Bronchial anomalies in VACTERL association.
Adaobi Kanu, David Tegay, Richard Scriven

Pediatr Pulmonol· September 2008

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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 H Tegay, John C Pomeroy, Sandra Burkett, Gary Stone

Am J Med Genet B Neuropsychiatr Genet· June 2008

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Trisomy 2 mosaicism in hypomelanosis of Ito.
Shruti Gupta, Shetal Shah, Ali Mcgaw, Theresa Mercado, Ann-Leslie Zaslav, David Tegay

Am J Med Genet A· October 2007

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Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
David H Tegay, Andrew H Lane, Jasmin Roohi, Eli Hatchwell

Am J Med Genet A· March 2007

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