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Human Molecular Genetics|January 3, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and humanAyesha Imtiaz, Inna A Belyantseva, Alisha J Beirl, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, et al.
The Journal of Cell Biology|June 5, 2025
Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivityInna A Belyantseva, Chang Liu, Abigail K Dragich, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
Annals of Surgical Oncology|May 11, 2016
TARGIT-R (Retrospective): North American Experience with Intraoperative Radiation Using Low-Kilovoltage X-Rays for Breast CancerStephanie A Valente, Rahul D Tendulkar, Sheen Cherian, et al.
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