Zobrazeno 1 - 10
of 42
pro vyhledávání: '"L. Frees"'
Autor:
Kristen L Seligman, Marlan R. Hansen, Kathy L. Frees, A. Eliot Shearer, Diana L. Kolbe, Bruce J. Gantz, Carla Nishimura, Camille C. Dunn, Richard J.H. Smith
Publikováno v:
Otolaryngol Head Neck Surg
Understanding genetic causes of hearing loss can determine the pattern and course of a patient’s hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study was to evaluate genetic causes of hearing loss in a larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5beb1850c3d00a3aaf0143e388032d53
https://doi.org/10.1177/01945998211021308
https://doi.org/10.1177/01945998211021308
Autor:
Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm
Publikováno v:
Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59c959649cc3aebd8383c0371b972af
https://doi.org/10.1038/s41431-020-00790-w
https://doi.org/10.1038/s41431-020-00790-w
Autor:
Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J.H. Smith, Hela Azaiez
Publikováno v:
Genet Med
PURPOSE: De novo mutations (DNMs) are a well-recognized cause of genetic disorders. The contribution of DNMs to hearing loss (HL) is poorly characterized. We aimed to evaluate the rate of DNMs in HL-associated genes and assess their contribution to H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27b6a767c2a511b19c366c89fe3f58a
https://pubmed.ncbi.nlm.nih.gov/36194208
https://pubmed.ncbi.nlm.nih.gov/36194208
Autor:
Luke T Hovey, Kevin T. Booth, Kathy L. Frees, Carla Nishimura, Mohsin Shahzad, Muhammad Usman Rashid, Amama Ghaffar, Richard J.H. Smith, Hela Azaiez, Erika M Renkes, Zubair M. Ahmed, Saima Riazuddin, Mureed Hussain
Publikováno v:
Hum Genet
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cd2ea6a6b9ffd90065dbd98836f28d
https://doi.org/10.1007/s00439-020-02197-5
https://doi.org/10.1007/s00439-020-02197-5
Autor:
Carla Nishimura, Amy E. Weaver, Richard J.H. Smith, Ashley S. Ko, Hela Azaiez, Kathy L. Frees, Kevin T. Booth, Heather A. Stiff, Arlene V. Drack, Donghong Wang, John Kamholz, Diana L. Kolbe, Wanda L. Pfeifer, Christina M. Sloan-Heggen
Publikováno v:
Ophthalmic Genet
BACKGROUND: Usher syndrome is the most common hereditary syndrome combining deafness and blindness (1, 2). In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02c184b4ddd929049728ac928b7834c
https://doi.org/10.1080/13816810.2020.1747088
https://doi.org/10.1080/13816810.2020.1747088
Autor:
Carla Nishimura, Saima Riazuddin, Amama Ghaffar, Richard J.H. Smith, Muhammad Ather Rashid, Kevin T. Booth, Luke T Hovey, Erika M Renkes, Mureed Hussain, Zubair M. Ahmed, Kathy L. Frees, Mohsin Shahzad, Hela Azaiez
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly deafness in mice and humans. Two forms of deafness are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b5b297bcfa08071a3c8003cdef84d
Autor:
Richard J.H. Smith, Yuzhou Zhang, Michael N. Jones, Kai Wang, Nicolò Borsa, Carla M. Nester, Erika Takanami, Fengxiao Bu, Amanda Taylor, Kathy L. Frees, Christie P. Thomas, Nicole C. Meyer
Publikováno v:
Journal of the American Society of Nephrology. 29:2809-2819
BACKGROUND: Genetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and often amb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a5e5c4c3bcfea04bafe9ed08636d1c
https://doi.org/10.1681/asn.2018070759
https://doi.org/10.1681/asn.2018070759
Publikováno v:
BioTechniques, Vol 31, Iss 1, Pp 22-24 (2001)
Externí odkaz:
https://doaj.org/article/9bef1ce8721341b384181ed7bb3872b7
Autor:
Terry A. Braun, Guy P. Richardson, Carla Nishimura, A. Monique Weaver, Shin-ichi Usami, Shin-ya Nishio, Hela Azaiez, Yoichiro Iwasa, Amanda M. Schaefer, Robert J. Marini, Kathy L. Frees, Hidekane Yoshimura, Thomas L. Casavant, Hideaki Moteki, Peter G. Barr-Gillespie, Diana L. Kolbe, Taylor R. Thomas, W. Daniel Walls, Kai Wang, Richard J.H. Smith, Kevin T. Booth
Publikováno v:
Hum Genet
We present detailed comparative analyses to assess population-level differences in patterns of genetic deafness between European/American and Japanese cohorts with non-syndromic hearing loss. One thousand eighty-three audiometric test results (921 Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd23c197428102377f449fcddbcd9b3
https://pubmed.ncbi.nlm.nih.gov/32382995
https://pubmed.ncbi.nlm.nih.gov/32382995
Autor:
Michael J. Schnieders, Jill Hauer, Fengxiao Bu, Hela Azaiez, Nicole C. Meyer, Erika Takanami, Elizabeth A. Black-Ziegelbein, Nicolò Borsa, Christie P. Thomas, Kathy L. Frees, Michael N. Jones, Diana L. Kolbe, Yingyue Li, Carla Nishimura, Carla M. Nester, Richard J.H. Smith
Publikováno v:
Journal of the American Society of Nephrology. 27:1245-1253
The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, C3GN, and dense deposit disease, which share phenotypic simila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f499bfe47815def588c640bf60923a
https://doi.org/10.1681/asn.2015040385
https://doi.org/10.1681/asn.2015040385