Suchergebnisse - (Person:"Stephens, Jonathan C")

PubPharm (11)

1

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

enthalten in: Blood | 2020

von Sims, M. | Mayer, L. | Collins, J. | +61

CommentIn: Blood. 2020 Oct 22;136(17):1900-1901. - PMID 33091135

2

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

enthalten in: Clinical immunology (Orlando, Fla.) | 2020

von Staples, E. | Simeoni, I. | Stephens, J. | +14

3

Next-generation sequencing for the diagnosis of MYH9-RD : Predicting pathogenic variants

enthalten in: Human mutation | 2020

von Bury, L. | Megy, K. | Stephens, J. | +34

4

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

enthalten in: Blood | 2019

von Lentaigne, C. | Greene, D. | Sivapalaratnam, S. | +28

CommentIn: Blood. 2019 Dec 5;134(23):2000-2002. - PMID 31805194

5

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

enthalten in: Blood | 2017

von Sivapalaratnam, S. | Westbury, S. | Stephens, J. | +23

CommentIn: Blood. 2017 Jan 26;129(4):403-404. - PMID 28126957

6

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

CommentIn: Blood. 2016 Jun 9;127(23 ):2781-2. - PMID 27282940

7

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

enthalten in: Science translational medicine | 2016

von Turro, E. | Greene, D. | Wijgaerts, A. | +56

8

Common genetic variants do not associate with CAD in familial hypercholesterolemia

enthalten in: European journal of human genetics : EJHG | 2014

von van Iperen, E. | Sivapalaratnam, S. | Boekholdt, S. | +11

9

SMIM1 underlies the Vel blood group and influences red blood cell traits

enthalten in: Nature genetics | 2013

von Cvejic, A. | Haer-Wigman, L. | Stephens, J. | +39

10

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

enthalten in: Nature genetics | 2012

von Albers, C. | Paul, D. | Schulze, H. | +28

CommentIn: Clin Genet. 2012 Jul;82(1):29-30. - PMID 22486491