Suchergebnisse - "Goldstein, Jennifer"

PubPharm (136)

1

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms

enthalten in: Annual review of biomedical data science | 2024

von Wright, M. | Thaxton, C. | Nelson, T. | +27

2

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

enthalten in: Molecular genetics and metabolism | 2024

von Goldstein, J. | Thomas-Wilson, A. | Groopman, E. | +11

3

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

enthalten in: bioRxiv.org | 2023

von Preston, C. | Wright, M. | Madhavrao, R. | +32

4

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

enthalten in: Molecular genetics and metabolism | 2023

von Goldstein, J. | McGlaughon, J. | Kanavy, D. | +24

5

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

enthalten in: Molecular genetics and metabolism | 2023

von Mohan, S. | Mayers, M. | Weaver, M. | +10

6

The Gene Curation Coalition : A global effort to harmonize gene-disease evidence resources

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von DiStefano, M. | Goehringer, S. | Babb, L. | +43

7

Mondo: Unifying diseases for the world, by the world

enthalten in: bioRxiv.org | 2022

von Vasilevsky, N. | Matentzoglu, N. | Toro, S. | +83

8

Lumping versus splitting : How to approach defining a disease to enable accurate genomic curation

enthalten in: Cell genomics | 2022

von Thaxton, C. | Goldstein, J. | DiStefano, M. | +6

9

ClinGen Variant Curation Interface : a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

enthalten in: Genome medicine | 2022

von Preston, C. | Wright, M. | Madhavrao, R. | +33

10

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

enthalten in: Genome medicine | 2022

von Preston, C. | Wright, M. | Madhavrao, R. | +32

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