E-LIB Suche - Ergebnisse für: Shayota, Brian

1

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/..

2

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/..

3

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/..

4

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/..

5

Biomarkers of mitochondrial disorders:

Shayota, Brian J.
Neurotherapeutics. 21 (2024) 1 - p. e00325 , 2024

Link: https://doi.org/10.1016/..

6

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/..

7

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/..

8

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/..

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

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/..

11

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/..

12

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/..

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/..

14

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/..

15

eP031: Clinical and biochemical characterization of carniti..:

Shayota, Brian ; Balakrishnan, Bijina ; Botto, Lorenzo..
Genetics in Medicine. 24 (2022) 3 - p. S20-S21 , 2022

Link: https://doi.org/10.1016/..