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

PubPharm (32)

1

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

enthalten in: bioRxiv.org | 2021

von Swietlik, E. | Greene, D. | Zhu, N. | +54

2

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

enthalten in: bioRxiv.org | 2021

von Sims, M. | Mayer, L. | Collins, J. | +60

3

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

enthalten in: Circulation. Genomic and precision medicine | 2020

von Swietlik, E. | Greene, D. | Zhu, N. | +56

4

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

5

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

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

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

6

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

7

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

8

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

9

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

enthalten in: bioRxiv.org | 2019

von Simeoni, I. | Shamardina, O. | Deevi, S. | +20

10

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