Suchergebnisse - "Penkett, Christopher J."

PubPharm (34)

1

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

2

CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia

enthalten in: Blood | 2022

von Bennett, C. | Lawrence, M. | Guerrero, J. | +23

CommentIn: Blood. 2022 Apr 7;139(14):2100-2101. - PMID 35389441

3

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

enthalten in: Genome medicine | 2021

von Zhu, N. | Swietlik, E. | Welch, C. | +126

ErratumIn: Genome Med. 2021 Jun 22;13(1):106. - PMID 34158098

4

Secondary findings in inherited heart conditions : a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

enthalten in: European journal of human genetics : EJHG | 2020

von Ormondroyd, E. | Harper, A. | Thomson, K. | +7

5

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

enthalten in: Blood | 2020

von Shovlin, C. | Simeoni, I. | Downes, K. | +14

6

The Polygenic and Monogenic Basis of Blood Traits and Diseases

enthalten in: Cell | 2020

von Vuckovic, D. | Bao, E. | Akbari, P. | +98

CommentIn: Nat Rev Genet. 2020 Nov;21(11):650. - PMID 32943745

7

Development and validation of a universal blood donor genotyping platform : a multinational prospective study

enthalten in: Blood advances | 2020

von Gleadall, N. | Veldhuisen, B. | Gollub, J. | +38

8

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

enthalten in: Nature | 2020

von Thaventhiran, J. | Lango Allen, H. | Burren, O. | +157

ErratumIn: Nature. 2020 Aug;584(7819):E2. - PMID 32678341

9

Whole-genome sequencing of patients with rare diseases in a national health system

enthalten in: Nature | 2020

von Turro, E. | Astle, W. | Megy, K. | +160

10

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

enthalten in: Journal of the American Society of Nephrology : JASN | 2020

von Levine, A. | Chan, M. | Sadeghi-Alavijeh, O. | +22

CommentIn: Nat Rev Nephrol. 2020 Apr;16(4):188. - PMID 31969712