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Journal Articles

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

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

Journal Articles

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States

Blood (2016) 127 (20): 2481–2488.

https://doi.org/10.1182/blood-2015-10-673681

Published: 2016

Includes: Supplemental data

Journal Articles

The Complete Type I VWD Cohort Of The Zimmerman Program For The Molecular and Clinical Biology Of VWD - Phenotypic Assignment, Mutation Frequency, and Bleeding Assessment

Robert R. Montgomery, MD, Pamela Christopherson, Daniel B. Bellissimo, Joan Cox Gill, Sandra L. Haberichter, Veronica H. Flood, MD, David Lillicrap, Anne C. Goodeve, Kenneth D Friedman, Thomas C. Abshire, Amy D. Shapiro, Margaret V. Ragni, Steven R. Lentz, Cindy A. Leissinger, Amy L. Dunn, Jeanne Lusher, Deborah Brown

Blood (2013) 122 (21): 332.

https://doi.org/10.1182/blood.V122.21.332.332

Published: 2013

Journal Articles

VWF sequence variants: a data goldmine

Anne C. Goodeve

Blood (2013) 122 (4): 471–473.

https://doi.org/10.1182/blood-2013-06-506147

Published: 2013

Journal Articles

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

Reinhard Schneppenheim, MD, PhD, Ulrich Budde, MD, Javier Batlle, MD, Giancarlo Castaman, MD, Jeroen C. J. Eikenboom, MD, PhD, Augusto B. Federici, MD, Jenny Goudemand, MD, PhD, Tobias Obser, Florian Oyen, Francesco Rodeghiero, MD, Sonja Schneppenheim, MD, Ian R. Peake, PhD, Anne C. Goodeve, PhD

Blood (2012) 120 (21): 99.

https://doi.org/10.1182/blood.V120.21.99.99

Published: 2012

Journal Articles

Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease

Daniel J. Hampshire, PhD, Lisa D. Bloomer, MSc, Ahlam M. Al-Buhairan, PhD, Rachael E. Coyle, Raymon N. C. P. Vijzelaar, MSc, David Lillicrap, MD, Paula D. James, MD, Jeroen C. J. Eikenboom, MD, PhD, Reinhard Schneppenheim, MD, PhD, Francesco Rodeghiero, MD, Robert R. Montgomery, MD, Ian R. Peake, PhD, Anne C. Goodeve, PhD

Blood (2010) 116 (21): 2218.

https://doi.org/10.1182/blood.V116.21.2218.2218

Published: 2010

Journal Articles

When 1 plus 1 equals 3 in VWD

Anne C. Goodeve

Blood (2009) 114 (5): 933–934.

https://doi.org/10.1182/blood-2009-04-218099

Published: 2009

Journal Articles

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

Martina E. Daly, Ban B. Dawood, William A. Lester, Ian R. Peake, Francesco Rodeghiero, Anne C. Goodeve, Michael Makris, Jonathan T. Wilde, Andrew D. Mumford, Stephen P. Watson, Stuart J. Mundell

Blood (2009) 113 (17): 4110–4113.

https://doi.org/10.1182/blood-2008-11-190850

Published: 2009

Journal Articles

Promoter Methylation of RASSFIA , SHP1 and SOCS1 Genes in Acute Myeloid Leukaemia (AML) and Myelodysplastic Syndromes (MDS).

M. Farid Johan, Anne C. Goodeve, David T. Bowen, John T. Reilly

Blood (2004) 104 (11): 2999.

https://doi.org/10.1182/blood.V104.11.2999.2999

Published: 2004

Journal Articles

Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factor

Grégoire Michaux, Lindsay J. Hewlett, Sarah L. Messenger, Anne C. Goodeve, Ian R. Peake, Martina E. Daly, Daniel F. Cutler

Blood (2003) 102 (7): 2452–2458.

https://doi.org/10.1182/blood-2003-02-0599

Published: 2003

Journal Articles

FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia

Faisal M. Abu-Duhier, Anne C. Goodeve, Gill A. Wilson, Rory S. Carr, Ian R. Peake, John T. Reilly

Blood (2002) 100 (1): 364.

https://doi.org/10.1182/blood-2002-02-0536

Published: 2002

Journal Articles

A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

Simon Allen, Adel M. Abuzenadah, Joanna Hinks, Joanna L. Blagg, Turkiz Gursel, Jørgen Ingerslev, Anne C. Goodeve, Ian R. Peake, Martina E. Daly

Blood (2000) 96 (2): 560–568.

https://doi.org/10.1182/blood.V96.2.560

Published: 2000

Journal Articles

Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

Simon Allen, Adel M. Abuzenadah, Joanna L. Blagg, Joanna Hinks, I. Mandy Nesbitt, Anne C. Goodeve, Turkiz Gursel, Jørgen Ingerslev, Ian R. Peake, Martina E. Daly

Blood (2000) 95 (6): 2000–2007.

https://doi.org/10.1182/blood.V95.6.2000

Published: 2000

NARROW

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

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States

The Complete Type I VWD Cohort Of The Zimmerman Program For The Molecular and Clinical Biology Of VWD - Phenotypic Assignment, Mutation Frequency, and Bleeding Assessment

VWF sequence variants: a data goldmine

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease

When 1 plus 1 equals 3 in VWD

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

Promoter Methylation of RASSFIA , SHP1 and SOCS1 Genes in Acute Myeloid Leukaemia (AML) and Myelodysplastic Syndromes (MDS).

Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factor

FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia

A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

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American Society of Hematology

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ASH Publications

American Society of Hematology

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