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My laboratory focuses on inherited hearing impairment and complement-related renal diseases like membranoproliferative glomerulonephritis type II (MPGN II; also known as Dense Deposit Disease) and atypical Hemolytic Uremic Syndrome.
Hereditary deafness is common. It affects 1:1, 000 newborns and accounts for greater than 50% of severe-to-profound childhood deafness. It also affects the elderly. Nearly 50% of octogenarians have difficulty communicating without the use of amplification, and in many, the cause is genetic. Inherited hearing impairment can occur with other co-inherited clinical features to form a recognized phenotype (syndromic hearing loss) or appear in isolation (non-syndromic hearing loss). Non-syndromic hearing loss accounts for approximately 70% of genetic deafness. It is almost exclusively monogenic and is highly heterogeneous, with some estimates of the number of deafness-causing genes exceeding 100.
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Michael Che,Sarah M Moran,Richard J Smith,Kevin Y M Ren,Graeme N Smith, M Khaled Shamseddin,Carmen Avila-Casado,Jocelyn S Garland
Kidney international (2024)
Jill J. Hauer,Yuzhou Zhang, Renee Goodfellow,Amanda Taylor,Nicole C. Meyer,Sarah Roberts,Dingwu Shao, Lauren Fergus,Nicolo Ghiringhelli Borsa,Monica Hall,Carla M. Nester,Richard J. H. Smith
KIDNEY INTERNATIONAL REPORTSno. 2 (2024): 464-477
Benjamin P. Jones,Saaliha Vali,Srdjan Saso,Andrea Devaney,Timothy Bracewell-Milnes,James Nicopoullos,Meen-Yau Thum,Baljeet Kaur, Candice Roufosse,Victoria Stewart,Nishat Bharwani, Ann Ogbemudia,
Carter M Lindborg,Richard D Smith, Alec M Reihl, Blake M Bacevich,Mark Cote, Evan O'Donnell,Augustus D Mazzocca, Ian Hutchinson
Behavioral sciences (Basel, Switzerland)no. 4 (2023): 299-299
Jin-Young Koh,Corentin Affortit,Paul T. Ranum, Cody West,William D. Walls,Hidekane Yoshimura, Jian Q. Shao,Brian Mostaert,Richard J.H. Smith
BMC Medical Genomicsno. 1 (2023): 133-17
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