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Shayota, Brian J.
50
results:
Search for persons
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Format
Online (50)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (17)
Sorted by: Relevance
Sorted by: Year
?
1
P173: Precision animal modeling and VUS-resolution in a nov..:
Burrage, Lindsay
;
Lanza, Denise
;
Marcogliese, Paul
...
Genetics in Medicine Open. 2 (2024) - p. 101070 , 2024
Link:
https://doi.org/10.1016/..
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2
Biomarkers of mitochondrial disorders:
Shayota, Brian J.
Neurotherapeutics. 21 (2024) 1 - p. e00325 , 2024
Link:
https://doi.org/10.1016/..
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3
P631: Case report: Haploinsufficiency of the HMGB1 gene cau..:
Wen, Ting
;
Shayota, Brian
;
Wallace, Lauren
...
Genetics in Medicine Open. 2 (2024) - p. 101537 , 2024
Link:
https://doi.org/10.1016/..
?
4
Clinical and biochemical characterization of a patient with..:
Coody, Troy
;
De Biase, Irene
;
Sutton, V. Reid
..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108215 , 2024
Link:
https://doi.org/10.1016/..
?
5
P317: Phenotypic variability among three family members wit..:
Cole, Stacey
;
Shayota, Brian
;
Taliercio, Vanina
...
Genetics in Medicine Open. 2 (2024) - p. 101211 , 2024
Link:
https://doi.org/10.1016/..
?
6
Downstream Assays for Variant Resolution:
Shayota, Brian J.
Pediatric Clinics of North America. 70 (2023) 5 - p. 929-936 , 2023
Link:
https://doi.org/10.1016/..
?
7
P172: Novel biallelic variants in the CSMD1 gene in a child..:
Geilmann, Shelby
;
Shayota, Brian
Genetics in Medicine Open. 1 (2023) 1 - p. 100201 , 2023
Link:
https://doi.org/10.1016/..
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8
P166: Phenotypic profiles of rapid whole genome sequencing ..:
Fontes, Andrew
;
Palmquist, Rachel
;
Gosekampm, Erin
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100195 , 2023
Link:
https://doi.org/10.1016/..
?
9
P585: Rapid genome sequencing identifies a de novo SNAP25 v..:
Wen, Ting
;
Reynolds, Hayley
;
Farrell, Andrew
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100632 , 2023
Link:
https://doi.org/10.1016/..
?
10
P516: RNASeq analysis identifies the pathogenicity of inher..:
Moore, Barry
;
Nicholas, Thomas
;
Mao, Rong
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100563 , 2023
Link:
https://doi.org/10.1016/..
?
11
P665: Recommendations for the improvement of diagnostic yie..:
Nicholas, Thomas
;
Farrell, Andrew
;
Rynearson, Shawn
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100730 , 2023
Link:
https://doi.org/10.1016/..
?
12
P243: The Utah NeoSeq Project: Developing and implementing ..:
Malone-Jenkins, Sabrina
;
Shayota, Brian
;
Solorzano, Chelsea
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100271 , 2023
Link:
https://doi.org/10.1016/..
?
13
Expansion and mechanistic insights into de novo DEAF1 varia..:
McGee, Stacey R
;
Rajamanickam, Shivakumar
;
Adhikari, Sandeep
...
Human Molecular Genetics. 32 (2022) 3 - p. 386-401 , 2022
Link:
https://doi.org/10.1093/..
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14
Novel pathogenic variants and quantitative phenotypic analy..:
Zhang, Chaofan
;
Jolly, Angad
;
Shayota, Brian J.
...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100074 , 2022
Link:
https://doi.org/10.1016/..
?
15
Comprehensive variant calling from whole‐genome sequencing ..:
Nicholas, Thomas J.
;
Al‐Sweel, Najla
;
Farrell, Andrew
...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
1-15