E-LIB Suche - Ergebnisse für: Oza, Andrea

1

Reanalysis of eMERGE phase III sequence variants in 10,500 ..:

Zouk, Hana ; Yu, Wanfeng ; Oza, Andrea...
Genetics in Medicine. 24 (2022) 2 - p. 454-462 , 2022

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

2

Exome Sequencing Expands the Genetic Diagnostic Spectrum fo..:

Perry, Julia ; Redfield, Shelby ; Oza, Andrea...
The Laryngoscope. 133 (2022) 9 - p. 2417-2424 , 2022

Link: https://doi.org/10.1002/..

3

Molecular characterization of pathogenicOTOAgene conversion..:

Laurent, Sacha ; Gehrig, Corinne ; Nouspikel, Thierry...
Human Mutation. 42 (2021) 4 - p. 373-377 , 2021

Link: https://doi.org/10.1002/..

4

Biallelic variants in KARS1 are associated with neurodevelo..:

Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G....
Genetics in Medicine. 23 (2021) 10 - p. 1933-1943 , 2021

Link: https://doi.org/10.1038/..

5

Dark-adapted threshold and electroretinogram for diagnosis ..:

Ambrosio, Lucia ; Hansen, Ronald M. ; Moskowitz, Anne...
Documenta Ophthalmologica. 143 (2021) 1 - p. 39-51 , 2021

Link: https://doi.org/10.1007/..

6

Audiologic Phenotype and Progression in Pediatric STRC‐Rela..:

Simi, Andrea ; Perry, Julia ; Schindler, Emma...
The Laryngoscope. 131 (2021) 12 - p. , 2021

Link: https://doi.org/10.1002/..

7

New Tmc1 Deafness Mutations Impact Mechanotransduction in A..:

Beurg, Maryline ; Schimmenti, Lisa A. ; Koleilat, Alaa...
The Journal of Neuroscience. 41 (2021) 20 - p. 4378-4391 , 2021

Link: https://doi.org/10.1523/..

8

Recommendations for interpreting the loss of function PVS1 ..:

Abou Tayoun, Ahmad N. ; Pesaran, Tina ; DiStefano, Marina T....
Human Mutation. 39 (2018) 11 - p. 1517-1524 , 2018

Link: https://doi.org/10.1002/..

9

Recurrent variants in OTOF are significant contributors to ..:

Almontashiri, Naif A.M. ; Alswaid, Abdulrahman ; Oza, Andrea...
Genetics in Medicine. 20 (2018) 5 - p. 536-544 , 2018

Link: https://doi.org/10.1038/..

10

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/..

11

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/..

12

Expert interpretation of genes and variants in hereditary h..:

DiStefano, Marina T. ; Hughes, Madeline Y. ; Patel, Mayher J...
Medizinische Genetik. 32 (2020) 2 - p. 109-115 , 2020

Link: https://doi.org/10.1515/..

13

ClinGen expert clinical validity curation of 164 hearing lo..:

DiStefano, Marina T. ; Hemphill, Sarah E. ; Oza, Andrea M....
Genetics in Medicine. 21 (2019) 10 - p. 2239-2247 , 2019

Link: https://doi.org/10.1038/..

14

Prenatal cytogenomic identification and molecular refinemen..:

Shi, Lisong ; Bai, Yan ; Kharbutli, Yara...
Molecular Genetics & Genomic Medicine. 7 (2019) 8 - p. , 2019

Link: https://doi.org/10.1002/..

15

Correction: ClinGen expert clinical validity curation of 16..:

DiStefano, Marina T. ; Hemphill, Sarah E. ; Oza, Andrea M....
Genetics in Medicine. 21 (2019) 10 - p. 2409 , 2019

Link: https://doi.org/10.1038/..