E-LIB Suche - Ergebnisse für: Andy Drackley

1

P706: Improved interpretation of PHOX2B missense variants f..:

Drackley, Andy ; Skol, Andrew ; Rand, Casey..
Genetics in Medicine Open. 2 (2024) - p. 101610 , 2024

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

2

Ocular manifestations of CHARGE syndrome in a pediatric coh..:

Kanwar, Kunal ; Bashey, Saffiya ; Bohnsack, Brenda L....
American Journal of Medical Genetics Part A. , 2024

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

3

Homozygosity for disease‐causing variants in AMT and GLDC i..:

Drackley, Andy ; Peter, Merlene ; Rathbun, Pamela...
American Journal of Medical Genetics Part A. , 2024

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

4

A case report of riboflavin transporter deficiency: A novel..:

Tranel, Elizabeth S. ; McGowan, Bridget ; Drackley, Andy...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101051 , 2024

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

5

P591: Assessing the performance of automated HPO term extra..:

Lee Yap, Kai ; Wong, Anthony ; Tuteja, Sachleen...
Genetics in Medicine Open. 1 (2023) 1 - p. 100638 , 2023

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

6

Diagnostic Yield of Genetic Testing for Ocular and Oculocut..:

Chan, Kyle S. ; Bohnsack, Brenda L. ; Ing, Alexander...
Genes. 14 (2023) 1 - p. 135 , 2023

Link: https://doi.org/10.3390/..

7

Expansion of the phenotypic spectrum associated with pathog..:

Drackley, Andy ; De Simone, Lenika ; Kuntz, Nancy...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 53-58 , 2023

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

8

P454: Investigating the efficacy of targeted NGS panels wit..:

Drackley, Andy ; Rathbun, Pamela ; Ing, Alexander...
Genetics in Medicine Open. 1 (2023) 1 - p. 100501 , 2023

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

9

Evaluation of Genetic Testing in a Cohort of Diverse Pediat..:

Rossen, Jennifer L. ; Bohnsack, Brenda L. ; Zhang, Kevin X....
Genes. 14 (2023) 3 - p. 608 , 2023

Link: https://doi.org/10.3390/..

10

P489: Retrospective review of genetic testing and variant r..:

Ing, Alexander ; Drackley, Andy ; Zhang, Kevin...
Genetics in Medicine Open. 1 (2023) 1 - p. 100536 , 2023

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

11

Utility and Outcomes of the 2019 American College of Medica..:

Drackley, Andy ; Brew, Casey ; Wlodaver, Alissa...
The Journal of Molecular Diagnostics. 24 (2022) 10 - p. 1100-1111 , 2022

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

12

OP034: Evaluation of the 2019 ACMG-ClinGen guidelines for i..:

Drackley, Andy ; Brew, Casey ; Wlodaver, Alissa...
Genetics in Medicine. 24 (2022) 3 - p. S362 , 2022

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

13

A case report of riboflavin transporter deficiency: A novel..:

Elizabeth S. Tranel ; Bridget McGowan ; Andy Drackley...
http://www.sciencedirect.com/science/article/pii/S2214426924000041. , 2024

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

14

Diagnostic Yield of Genetic Testing for Ocular and Oculocut..:

Kyle S. Chan ; Brenda L. Bohnsack ; Alexander Ing...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..

15

Evaluation of Genetic Testing in a Cohort of Diverse Pediat..:

Jennifer L. Rossen ; Brenda L. Bohnsack ; Kevin X. Zhang...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..