D. Tegay

发表

Title : KBG syndrome involving a single base insertion in ANKRD 11

J. Coppinger, Kai Wang, R. Robison, 2016 .

SCN8A mutation in a child presenting with seizures and developmental delays

Gholson J. Lyon, Miriam H. Meisler, J. Coppinger, 2016, Cold Spring Harbor molecular case studies.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Kai Wang, R. Robison, G. Lyon, 2016, Cold Spring Harbor molecular case studies.

Disruption of Contactin 4 in 3 Subjects with Autism Spectrum Disorder

S. Christian, N. Nowak, E. Hatchwell, 2008 .

Precision oncology: lessons learned and challenges for the future

Ronak H Shah, K. Onel, Hsih-te Yang, 2019, Cancer management and research.

Impact of Academic Affiliation and Training on Knowledge of Hereditary Colorectal Cancer

D. Tegay, V. Chan, B. Krishnamachari, 2014, Public Health Genomics.

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

K. Hirschhorn, L. Ala‐Kokko, P. Warburton, 2012, Genetics in Medicine.

Training on Knowledge of Hereditary

D. Tegay, V. Chan, B. Krishnamachari, 2014 .

A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder

E. Hatchwell, D. Tegay, R. Stanyon, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

E. Hatchwell, D. Tegay, H. Toriello, 2009, Clinical genetics.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Physician and medical student knowledge of hereditary cancer genetics in pediatrics

John P. Govindavari, D. Tegay, V. Chan, 2016 .

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

S. Mundlos, H. Brunner, C. Ott, 2010, Human mutation.

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells

H. Ostrer, K. Onel, D. Tegay, 2022, HGG advances.

Trisomy 2 mosaicism in hypomelanosis of Ito

Shruti Gupta, Shetal I Shah, D. Tegay, 2007, American journal of medical genetics. Part A.

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, N. Nowak, E. Hatchwell, 2009, Journal of Medical Genetics.

Disruption of contactin 4 in three subjects with autism spectrum disorder

S. Christian, N. Nowak, E. Hatchwell, 2008, Journal of Medical Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study

D. Tegay, O. Leitner, V. Chan, 2017, Journal of Cancer Education.

Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing

D. Tegay, V. Chan, B. Krishnamachari, 2015, Journal of Cancer Education.

Physician Knowledge of Ethnicity Specific Differences in BRCA Genetic Testing

D. Tegay, V. Chan, B. Krishnamachari, 2014, The breast journal.

Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study

D. Tegay, O. Leitner, V. Chan, 2017, Journal of Cancer Education.

Bronchial anomalies in VACTERL association

D. Tegay, R. Scriven, Adaobi Kanu, 2008, Pediatric pulmonology.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Contiguous gene deletion involving L1CAM and AVPR2 causes X‐linked hydrocephalus with nephrogenic diabetes insipidus

E. Hatchwell, D. Tegay, J. Roohi, 2007, American journal of medical genetics. Part A.

Acceptance of technology-based tools in a sample of Parkinson’s patients

John P. Govindavari, D. Tegay, V. Chan, 2017, Chronic illness.

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.

G. Mortier, D. Tegay, W. Van Hul, 2013, Bone.

6-Mercaptopurine teratogenicity

D. Tegay, J. Willner, R. Tepper, 2002, Postgraduate medical journal.

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

J. Wynn, D. Tegay, B. Weinberger, 2023, Annals of clinical and translational neurology.

Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic

J. Wynn, D. Tegay, Norma P. Tavakoli, 2022, International journal of neonatal screening.

Acceptance of technology-based tools in a sample of Parkinson’s patients

John P. Govindavari, D. Tegay, K. Pergament, 2017, Chronic illness.