A. Griffin

发表

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.

The impact of COVID-19 on clinical research: the PIPPRA and MEDRA experience

A. Tierney, S. Gallagher, B. A. Esbensen, 2021, HRB open research.

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.

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

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

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.

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.

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.