Suchergebnisse - "Megy, Karyn"

PubPharm (73)

1

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

enthalten in: bioRxiv.org | 2024

von Sanchis-Juan, A. | Megy, K. | Stephens, J. | +28

2

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

enthalten in: Journal of thrombosis and haemostasis : JTH | 2024

von Ross, J. | Mohan, S. | Zhang, J. | +20

3

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

enthalten in: Blood | 2023

von Stefanucci, L. | Collins, J. | Sims, M. | +32

CommentIn: Blood. 2023 Dec 14;142(24):2037-2038. - PMID 38095926

4

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

enthalten in: American journal of human genetics | 2023

von Sanchis-Juan, A. | Megy, K. | Stephens, J. | +29

5

Practical challenges for functional validation of STAT1 gain of function genetic variants

enthalten in: Clinical and experimental immunology | 2023

von Albuquerque, A. | Maimaris, J. | McKenna, A. | +109

6

Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders : Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617

enthalten in: Journal of thrombosis and haemostasis : JTH | 2023

von Megy, K. | Downes, K. | Morel-Kopp, M. | +13

ErratumFor: J Thromb Haemost. 2021 Oct;19(10):2612-2617. - PMID 34355501

7

Effectiveness and costs of a stepwise versus an all-in-one approach to diagnose mild bleeding disorders

enthalten in: British journal of haematology | 2023

von Heubel-Moenen, F. | Ansems, L. | Verhezen, P. | +8

8

First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease

enthalten in: bioRxiv.org | 2023

von Prapa, M. | Lago-Docampo, M. | Swietlik, E. | +37

9

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

enthalten in: Brain communications | 2023

von Themistocleous, A. | Baskozos, G. | Blesneac, I. | +22

10

First Genotype-Phenotype Study in TBX4 Syndrome : Gain-of-Function Mutations Causative for Lung Disease

enthalten in: American journal of respiratory and critical care medicine | 2022

von Prapa, M. | Lago-Docampo, M. | Swietlik, E. | +40

CommentIn: Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. - PMID 35925028

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