Suchergebnisse - "Jobanputra, Vaidehi"

PubPharm (153)

1

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

enthalten in: bioRxiv.org | 2024

von Rehm, H. | Alaimo, J. | Aradhya, S. | +59

2

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

enthalten in: bioRxiv.org | 2024

von Abul-Husn, N. | Marathe, P. | Kelly, N. | +24

3

Advancing access to genome sequencing for rare genetic disorders : recent progress and call to action

enthalten in: NPJ genomic medicine | 2024

von Jobanputra, V. | Schroeder, B. | Rehm, H. | +11

4

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

enthalten in: Annals of clinical and translational neurology | 2024

von Donkervoort, S. | Mohassel, P. | O'Leary, M. | +121

5

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Schmidt, R. | Steeves, M. | Bayrak-Toydemir, P. | +67

6

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

enthalten in: NPJ genomic medicine | 2024

von Wigby, K. | Brockman, D. | Costain, G. | +11

7

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

enthalten in: The Journal of clinical investigation | 2024

von Li, D. | Wang, Q. | Bayat, A. | +98

8

The best of both worlds : Blending cutting-edge research with clinical processes for a productive exome clinic

enthalten in: Clinical genetics | 2024

von Sullivan, J. | Spillmann, R. | Schoch, K. | +8

9

The landscape of reported VUS in multi-gene panel and genomic testing : Time for a change

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Rehm, H. | Alaimo, J. | Aradhya, S. | +69

10

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

enthalten in: Circulation. Genomic and precision medicine | 2023

von Hays, T. | Hernan, R. | Disco, M. | +15

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