Buduo, Christian Andrea Di; Abbonante, Vittorio; Malara, Alessandro; Balduini, Alessandra; Waller, Amie K.; Watson, Steve P.; Martin, Eleyna M.; Bridge, Lloyd; Gibbins, Jonathan; Hers, Ingeborg; Masson, Claire; Eckly, Anita; Poulter, Natalie S.; Martinez-Garcia, Beatriz; Aguila, Sonia; Gresele, Paolo; Momi, Stefania; Amstrong, Paul; Rondina, Matthew; Troitino, Sara; Garcia, Angel; Bastida, Jose M.; Quilez, Ana Marin; Fuentes, Ana Sanchez; Rivera, Jose; Torres-Ruiz, Raul; Ojeda-Walczuk, Paula; Morgan, Neil, V; de la Morena, Belen; Ramaekers, Kato; Tran, My; De Wispelaere, Koen; Freson, Kathleen; Bergmeier, Wolfgang; Greinacher, Andreas; He, Fan; Oh, Stephen; Di Paola, Jorge; Semple, John W.; Lozano, Maria L.; Llamas, Pilar; Ward, Chris

Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome

新的Scott综合征患者中新的ANO6变体的综合功能表征

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2024-08-011

PRE

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

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2024-03-011

PRE

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

BLOOD ADVANCES

IF7.1

2023-10-1213

OAAI

Homan, Claire C.; Drazer, Michael W.; Yu, Kai; Lawrence, David M.; Feng, Jinghua; Arriola-Martinez, Luis; Pozsgai, Matthew J.; Mcneely, Kelsey E.; Ha, Thuong; Venugopal, Parvathy; Arts, Peer; King-Smith, Sarah L.; Cheah, Jesse; Armstrong, Mark; Wang, Paul; Bodor, Csaba; Cantor, Alan B.; Cazzola, Mario; Degelman, Erin; Dinardo, Courtney D.; Duployez, Nicolas; Favier, Remi; Froehling, Stefan; Rio-Machin, Ana; Klco, Jeffery M.; Kraemer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil, V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P.; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Kim, Erika; NISC Comparative Sequencing Program, Amy P.; Hsu, Amy P.; Holland, Steven M.; Phillips, Kerry; Poplawski, Nicola K.; Babic, Milena; Wei, Andrew H.; Forsyth, Cecily; Fan, Helen Mar; Lewis, Ian D.; Cooney, Julian; Susman, Rachel; Fox, Lucy C.; Blombery, Piers; Singhal, Deepak; Hiwase, Devendra; Phipson, Belinda; Schreiber, Andreas W.; Hahn, Christopher N.; Scott, Hamish S.; Liu, Paul; Godley, Lucy A.; Brown, Anna L.

Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36

cardiovascular research

IF10.8

2023-07-175

PRE

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 (vol 19, pg 2612, 2021)

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2023-04-010

OAAI

Introduction of an ancient founder glycoprotein VI mutation into the Chilean population

BLOOD ADVANCES

IF7.1

2022-11-224

OAAI

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

CELLS

IF5.2

2022-10-146

OAAI

Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2022-02-015

OAAI

Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes

HAEMATOLOGICA

IF7.9

2022-01-133

OAAI

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2021-10-0128

OAAI

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

HAEMATOLOGICA

IF7.9

2021-07-0832

OAAI

Homan, Claire C.; King-Smith, Sarah L.; Lawrence, David M.; Arts, Peer; Feng, Jinghua; Andrews, James; Armstrong, Mark; Ha, Thuong; Dobbins, Julia; Drazer, Michael W.; Yu, Kai; Bodor, Csaba; Cantor, Alan; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D.; Duployez, Nicolas; Favier, Remi; Frohling, Stefan; Fitzgibbon, Jude; Klco, Jeffery M.; Kramer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V.; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P.; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Liu, Paul; Godley, Lucy A.; Schreiber, Andreas W.; Hahn, Christopher N.; Scott, Hamish S.; Brown, Anna L.

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

BRAIN COMMUNICATIONS

IF4.5

2021-01-2812

OAAI

Neil V. Morgan

个人简介

教育背景

工作经历

荣誉奖项

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