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Human Molecular Genetics|January 3, 2019
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathyRisa Tona, Wenqian Chen, Yoko Nakano, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|August 29, 2024
Reliability of Intestinal Ultrasound for Evaluating Crohn's Disease Activity Using Point-of-care and Central ReadingThomas M Goodsall, Yoon-Kyo An, Jane M Andrews, et al.
American Journal of Human Genetics|July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
American Journal of Human Genetics|June 13, 1998
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y Liang, A Wang, F J Probst, et al.
BMC Health Services Research|June 27, 2023
Patient and clinician perspectives of a remote monitoring program for COVID-19 and lessons for future programsKrisda H Chaiyachati, Judy A Shea, Michaela Ward, et al.
Nature Communications|January 22, 2025
Myosin-based nucleation of actin filaments contributes to stereocilia development critical for hearingZane G Moreland, Fangfang Jiang, Carlos Aguilar, et al.
Alimentary Pharmacology & Therapeutics|February 28, 2021
Standardisation of intestinal ultrasound scoring in clinical trials for luminal Crohn's diseaseThomas M Goodsall, Vipul Jairath, Brian G Feagan, et al.
JCI Insight|June 21, 2019
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearingTatsuya Katsuno, Inna A Belyantseva, Alexander X Cartagena-Rivera, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
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