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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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论文共 431 篇作者统计合作学者相似作者
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Andrew Bomhack, David Kavanagh,Marina Vivarelli,Yaqin Wang, UdayKiran Veldandi, Nicholas Webb,Matthias Meier,Richard Smith
AMERICAN JOURNAL OF KIDNEY DISEASESno. 4 (2024): S124-S124
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Carter M. Lindborg,Richard D. Smith, Alec M. Reihl,Blake M. Bacevich,Mark Cote,Evan O’Donnell,Augustus D. Mazzocca,Ian Hutchinson
bioRxiv the preprint server for biology (2024)
Kidney International Reportsno. 4 (2024): S116-S117
Behavioral sciencesno. 4 (2023): 299-299
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2023): 76-76
Journal of the American Society of Nephrologyno. 11S (2023): 984-985
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#Papers: 431
#Citation: 12388
H-Index: 56
G-Index: 99
Sociability: 7
Diversity: 0
Activity: 1
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