T. Young

发表

Exercise and Arrhythmic Risk in TMEM43 p.S358L Arrhythmogenic Right Ventricular Cardiomyopathy.

P. Parfrey, F. Paulin, K. Hodgkinson, 2020, Heart rhythm.

A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

T. Stockley, T. Young, N. Merner, 2013, Human mutation.

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Sean Connors, Patrick S Parfrey, Barry Gallagher, 2008, American journal of human genetics.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2004, BMC Medical Genetics.

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.

D. Judge, J. Mogensen, T. Šarić, 2015, European heart journal.

Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy

P. Parfrey, K. Hodgkinson, S. Stuckless, 2016, Circulation. Arrhythmia and electrophysiology.

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

A. Bassett, P. Parfrey, K. Hodgkinson, 2013, Clinical genetics.

Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis

C. Kovacs, T. Young, Curtis R. French, 2022, Genes.

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

M. Woods, P. Parfrey, T. Young, 1999, Genomics.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

T. Walsh, M. King, B. Fernandez, 2009, European Journal of Human Genetics.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

S. Stanton, T. Young, D. O’Rielly, 2016, Human Genetics.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

P. Hu, S. Agrawal, T. Young, 2021, Human genetics.

Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: Lessons for health policy in genetic disease

P. Parfrey, E. Dicks, K. Hodgkinson, 2009, Genetics in Medicine.

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

B. Fernandez, P. Parfrey, T. Young, 2011, European Journal of Human Genetics.

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

B. Fernandez, T. Young, D. O’Rielly, 2019, BMC Medical Genetics.

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, G. Neri, 2006, Journal of Medical Genetics.

Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

Steven J. M. Jones, B. Fernandez, T. Nielsen, 2011, The Journal of pathology.

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

T. Young, D. O’Rielly, Jane S Green, 2019, Molecular genetics & genomic medicine.

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

J. Schwartzentruber, T. Young, Jane S Green, 2013, Ophthalmic genetics.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

C. Cremers, T. Young, T. A. Sivakumaran, 2003, Human mutation.

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

P. Parfrey, K. Hodgkinson, T. Young, 2009, Seizure.

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

K. Hodgkinson, T. Young, D. Pullman, 2015, Genetics in Medicine.

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

S. Stanton, T. Stockley, T. Young, 2014, American journal of audiology.

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

T. Young, D. O’Rielly, Jane S Green, 2020, European Journal of Human Genetics.

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

M. Woods, P. Parfrey, T. Young, 1999, American journal of human genetics.

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

M. Woods, P. Parfrey, T. Young, 1999, American journal of human genetics.

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

M. Woods, P. Parfrey, T. Young, 1998, American journal of medical genetics.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Daniel Vincent, F. Glaser, S. Stanton, 2022, Human Genetics.

Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene

Daniel Vincent, S. Stanton, O. Barel, 2021 .

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

M. King, B. Fernandez, Ming K. Lee, 2001, Human molecular genetics.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

P. Elliott, P. Syrris, K. Hodgkinson, 2013, European heart journal.

Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.

P. Parfrey, E. Dicks, T. Young, 2009, Kidney international.

‘It had to be done’: genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy

K. Hodgkinson, T. Young, D. Pullman, 2015, Clinical genetics.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

S. Stanton, K. Hodgkinson, T. Young, 2013, European Journal of Human Genetics.

“Something is just not right with my hearing”: early experiences of adults living with hearing loss

T. Young, K. Parsons, J. Smith-Young, 2021, International journal of audiology.

APOE-E4 is not associated with pure-tone hearing thresholds, visual acuity or cognition, cross-sectionally or over 3 years of follow up in the Canadian Longitudinal Study on Aging

M. Pichora-Fuller, T. Young, Z. Gan-Or, 2023, medRxiv.

SEX-INFLUENCED MORTALITY IN THREE WELL-ASCERTAINED FAMILIES WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA CAUSED BY A RYR2 P.R420W MUTATION: THE POWER OF EXTENDED FAMILY HISTORY

K. Hodgkinson, S. Stuckless, T. Young, 2017 .

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, A. Roberts, 2006, Journal of Medical Genetics.

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

Daniel Vincent, S. Stanton, T. Young, 2023, European Journal of Human Genetics.

High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland

P. Parfrey, T. Young, S. Penney, 2012, Epilepsy Research.

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Hensley H. Mariathas, K. Hodgkinson, T. Young, 2021, Public Health Genomics.

High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland

P. Parfrey, T. Young, S. Penney, 2012, Epilepsy Research.

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

T. Young, D. O’Rielly, Jane S Green, 2020, European Journal of Human Genetics.

A preliminary analysis of the DNA and diet of the extinct Beothuk: a systematic approach to ancient human DNA.

M. Stoneking, E. Willerslev, M. Gilbert, 2007, American journal of physical anthropology.

Is the Pediatric Quality of Life Inventory Valid for Use in Preschool Children with Refractive Errors?

S. Saw, E. Lamoureux, T. Young, 2010, Optometry and vision science : official publication of the American Academy of Optometry.