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Booth, Kevin T.A.
1916
results:
Articles (Online) X
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Languages
english (1812)
german (6)
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1
Biallelic Loss-of-Function Variants in BICD1 Are Associated..:
Hirsch, Yoel
;
Chung, Wendy K.
;
Novoselov, Sergey
...
International Journal of Molecular Sciences. 24 (2023) 10 - p. 8897 , 2023
Link:
https://doi.org/10.3390/..
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2
Mini-PCDH15 gene therapy rescues hearing in a mouse model o..:
Ivanchenko, Maryna V.
;
Hathaway, Daniel M.
;
Klein, Alex J.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
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3
Biochemical and molecular confirmation of alkaptonuria in a..:
Fayette, Melissa A.
;
Booth, Kevin T.A.
;
Lynnes, Ty C.
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107628 , 2023
Link:
https://doi.org/10.1016/..
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4
Editorial to the Special Issue on "The molecular genetics o..:
Booth, Kevin T.
;
Shearer, A. Eliot
Human Genetics. , 2022
Link:
https://doi.org/10.1007/..
?
5
Expanding the phenotypic spectrum of COLEC10‐Related 3MC sy..:
Rabin, Rachel
;
Hirsch, Yoel
;
Chung, Wendy K.
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3110-3117 , 2022
Link:
https://doi.org/10.1002/..
?
6
Genetic etiology of hearing loss in Iran:
Babanejad, Mojgan
;
Beheshtian, Maryam
;
Jamshidi, Fereshteh
...
Human Genetics. , 2022
Link:
https://doi.org/10.1007/..
?
7
DVPred: a disease-specific prediction tool for variant path..:
Bu, Fengxiao
;
Zhong, Mingjun
;
Chen, Qinyi
...
Human Genetics. , 2022
Link:
https://doi.org/10.1007/..
?
8
Disease-specific ACMG/AMP guidelines improve sequence varia..:
Patel, Mayher J.
;
DiStefano, Marina T.
;
Oza, Andrea M.
...
Genetics in Medicine. 23 (2021) 11 - p. 2208-2212 , 2021
Link:
https://doi.org/10.1038/..
?
9
Exome sequencing utility in defining the genetic landscape ..:
Mohseni, Marzieh
;
Babanejad, Mojgan
;
Booth, Kevin T.
...
Clinical Genetics. 100 (2021) 1 - p. 59-78 , 2021
Link:
https://doi.org/10.1111/..
?
10
A biallelic variant in CLRN2 causes non-syndromic hearing l..:
Vona, Barbara
;
Mazaheri, Neda
;
Lin, Sheng-Jia
...
Human Genetics. 140 (2021) 6 - p. 915-931 , 2021
Link:
https://doi.org/10.1007/..
?
11
Identification of Novel and Recurrent Variants in MYO15A in..:
Booth, Kevin T.
;
Hirsch, Yoel
;
Vardaro, Anna C.
...
Frontiers in Genetics. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
12
A synonymous variant in MYO15A enriched in the Ashkenazi Je..:
Hirsch, Yoel
;
Tangshewinsirikul, Chayada
;
Booth, Kevin T.
...
European Journal of Human Genetics. 29 (2021) 6 - p. 988-997 , 2021
Link:
https://doi.org/10.1038/..
?
13
A comparative analysis of genetic hearing loss phenotypes i..:
Walls, W. Daniel
;
Moteki, Hideaki
;
Thomas, Taylor R.
...
Human Genetics. 139 (2020) 10 - p. 1315-1323 , 2020
Link:
https://doi.org/10.1007/..
?
14
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mu..:
Booth, Kevin T.
;
Azaiez, Hela
;
Smith, Richard J. H.
International Journal of Molecular Sciences. 21 (2020) 11 - p. 3951 , 2020
Link:
https://doi.org/10.3390/..
?
15
Insights into the pathophysiology of DFNA10 hearing loss as..:
Morín, Matias
;
Borreguero, Lucía
;
Booth, Kevin T
...
Scientific Reports. 10 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1038/..
1-15