E-LIB Suche - Ergebnisse für: Goldstein, Jennifer L.

1

Development of a scoring system to define lysosomal disease:

Wilke, Matheus V. ; Goldstein, Jennifer ; Groopman, Emily...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108083 , 2024

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

2

ClinGen variant curation expert panel recommendations for c..:

Goldstein, Jennifer ; Thomas-Wilson, Amanda ; Groopman, Emily...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108362 , 2024

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

3

Metabolizing the Challenges to Partnership: Partner Learnin..:

Goldstein, Jennifer ; Lozano, Maritza ; Panero, Nell Scharff
Journal of Research on Leadership Education. , 2024

Link: https://doi.org/10.1177/..

4

THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: ..:

Mao, Rong ; Groopman, Emily ; Fernandez, Raquel...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107454 , 2023

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

5

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open. 1 (2023) 1 - p. 100005 , 2023

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

6

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Mayers, Megan ; Weaver, Meredith...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107604 , 2023

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

7

Variant Classification for Pompe disease; ACMG/AMP specific..:

Goldstein, Jennifer L. ; McGlaughon, Jennifer ; Kanavy, Dona...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107715 , 2023

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

8

"In the Shadow of the Happiest Place on Earth": Schools as ..:

Matsuda, Michael ; Noguera, Pedro ; Goldstein, Jennifer
VUE (Voices in Urban Education); Leadership for Racial Equity and Social Justice: Engaging Families and Communities in Educational Research, Advocacy, and Change. 51 (2023) 1 - p. , 2023

Link: https://doi.org/10.35240..

9

The ClinGen Lysosomal Diseases Gene Curation Panel: Applyin..:

Groopman, Emily ; Fernandez, Raquel ; Mohan, Shruthi...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107128 , 2023

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

10

P451: The Gene Curation Coalition works to resolve discrepa..:

DiStefano, Marina ; Amberger, Joanna ; Austin-Tse, Christina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100498 , 2023

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

11

eP354: A systematic approach for applying disease-specific ..:

Groopman, Emily ; Goldstein, Jennifer ; McNulty, Shannon...
Genetics in Medicine. 24 (2022) 3 - p. S222-S223 , 2022

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

12

eP137: Defining the disease entity for inherited retinal di..:

Hankey, William ; Sergouniotis, Panagiotis ; Goldstein, Jennifer...
Genetics in Medicine. 24 (2022) 3 - p. S85 , 2022

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

13

The Gene Curation Coalition: A global effort to harmonize g..:

DiStefano, Marina T. ; Goehringer, Scott ; Babb, Lawrence...
Genetics in Medicine. 24 (2022) 8 - p. 1732-1742 , 2022

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

14

ClinGen Variant Curation Interface: a variant classificatio..:

Preston, Christine G. ; Wright, Matt W. ; Madhavrao, Rao...
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

15

Lumping versus splitting: How to approach defining a diseas..:

Thaxton, Courtney ; Goldstein, Jennifer ; DiStefano, Marina...
Cell Genomics. 2 (2022) 5 - p. 100131 , 2022

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