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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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Maria Armila Ruiz,Xu Zhang, M Adela Mansilla,Rima S Zahr, Christie P Thomas,Richard J Smith,Victor R Gordeuk,Santosh L Saraf
British journal of haematology (2024)
Kidney international (2024)
Carla Nester, Dima A Decker,Matthias Meier, Shakil Aslam,Andrew S Bomback, Fernando Caravaca-Fontán,Terence H Cook, David L Feldman,Veronique Fremeaux-Bacchi, Daniel P Gale, Ann Gooch,Sally Johnson,
Clinical journal of the American Society of Nephrology : CJASN (2024)
Carter M. Lindborg,Richard D. Smith, Alec M. Reihl, Blake M. Bacevich,Mark Cote, Evan O'Donnell,Augustus D. Mazzocca, Ian Hutchinson
Nicholas Webb,David Kavanagh,Andrew S. Bomback,Richard J.H. Smith, UdayKiran Veldandi,Yaqin Wang,Matthias Meier,Marina Vivarelli
Kidney International Reportsno. 4 (2024): S116-S117
Behavioral sciences (Basel, Switzerland)no. 4 (2023): 299-299
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