Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Levine AP , Chan MMY , Sadeghi-Alavijeh O , Wong EKS
Journal of The American Society of Nephrology 31 ( 2) 365 -373
10
2020
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L , Megy K , Stephens JC , Grassi L
Human Mutation 41 ( 1) 277 -290
8
2020
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro , William J Astle , Karyn Megy , Stefan Gräf
Nature 583 ( 7814) 96 -102
2020
Reduced transfer coefficient of carbon monoxide in pulmonary arterial hypertension implicates rare protein-truncating variants in KDR
Emilia M Swietlik , Daniel Greene , Na Zhu , Karyn Megy
bioRxiv
4
2019
Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences
James E. D. Thaventhiran , Oliver S. Burren , Willem H. Ouwehand , Ilenia Simeoni
bioRxiv 499988
4
2018
Whole Genome Interpretation for a Family of Five.
Antonio Metastasio , Antonio Metastasio , Karyn Megy , Karyn Megy
Frontiers in Genetics 12 535123 -535123
2021
Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.
William J Astle , Andrew D Mumford , Karyn Megy , Janine Collins
British Journal of Haematology
2021
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Kate Downes , Karyn Megy , Daniel Duarte , Minka Vries
Blood 134 ( 23) 2082 -2091
122
2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Claire Lentaigne , Daniel Greene , Suthesh Sivapalaratnam , Remi Favier
Blood 134 ( 23) 2070 -2081
16
2019
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Tiziana Lorenzini , Manfred Fliegauf , Nils Klammer , Natalie Frede
The Journal of Allergy and Clinical Immunology 146 ( 4) 901 -911
59
2020
Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Alexander T. Dilthey , Daniel Duarte , Shane Grimsley , Katja van den Hurk
Blood Advances 4 ( 15) 3495 -3506
3
2020
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Claire L. Shovlin , Ilenia Simeoni , Kate Downes , Zoe C. Frazer
Blood 136 ( 17) 1907 -1918
1
2020
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Matthew C Sims , Louisa Mayer , Janine H Collins , Tadbir K Bariana
Blood 136 ( 17) 1956 -1967
8
2020
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni , Jonathan C. Stephens , Fengyuan Hu , Sri V. V. Deevi
Blood 127 ( 23) 2791 -2803
170
2016
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.
Lore De Kock , Chantal Thys , Kate Downes , Daniel Duarte
Platelets 30 ( 7) 931 -934
4
2019
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Rhea YY Tan , Matthew Traylor , Karyn Megy , Daniel Duarte
Neurology 93 ( 22)
4
2019
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren J Carss , Gavin Arno , Marie Erwood , Jonathan Stephens
American Journal of Human Genetics 100 ( 1) 75 -90
352
2017
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
James Whitworth , Philip S Smith , Jose-Ezequiel Martin , Hannah West
American Journal of Human Genetics 103 ( 1) 3 -18
23
2018
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Yoko Ito , Keren J Carss , Sofia T Duarte , Taila Hartley
American Journal of Human Genetics 103 ( 1) 144 -153
27
2018
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Karyn Megy , Kate Downes , Ilenia Simeoni , Loredana Bury
Journal of Thrombosis and Haemostasis 17 ( 8) 1253 -1260
18
2019