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Journal Articles

Large-Scale Linkage Analysis of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS) Families

Alyssa I. Clay-Gilmour, BS, PhD, Nicola J Camp, PhD, Xiaomu Wei, PhD, Aaron D. Norman, Jason P Sinnwell, MS, Delphine Demangel, Rosalie Griffin Waller, BS, Charles Dumontet, James McKay, Kenneth Offit, MD, Siwei Chen, Daniel R O'Brien, S. Vincent Rajkumar, MD, Robert Klein, PhD, Shaji K. Kumar, MD, Steven Lipkin, MD PhD, Susan L. Slager, PhD, Celine M. Vachon, PhD

Blood (2018) 132 (Supplement 1): 4501.

https://doi.org/10.1182/blood-2018-99-119320

Published: 2018

Journal Articles

A Gain-of-Function Mutation in EPO Gene Causes Familial Erythrocytosis

Jakub Zmajkovic, MS, Pontus Lundberg, PhD, Ronny Nienhold, PhD, Anders Sundan, PhD, Anders Waage, MD PhD, Radek C. Skoda, MD

Blood (2017) 130 (Supplement 1): 1653.

https://doi.org/10.1182/blood.V130.Suppl_1.1653.1653

Published: 2017

Journal Articles

Non-Pathogenic Antibodies in HIT: Clustering for Clarity

Philip Young-Ill Choi, MBBS FRCPA FRACP

Blood (2015) 126 (23): 3481.

https://doi.org/10.1182/blood.V126.23.3481.3481

Published: 2015

Journal Articles

Impairment of IL-17 Immunity to Candida and IFN-g Immunity to Mycobacterium in Humans with Bi-Allelic Rorc mutations

Satoshi Okada, MD PhD, Janet Markle, PhD, Masao Kobayashi, MD PhD, Jacinta Bustamante, MD PhD, Jean-Laurent Casanova, MD PhD

Blood (2015) 126 (23): 205.

https://doi.org/10.1182/blood.V126.23.205.205

Published: 2015

Journal Articles

Dominant NFKB1 Mutations Cause Antibody Deficiency and Autoinflammatory Episodes

Blood (2015) 126 (23): 206.

https://doi.org/10.1182/blood.V126.23.206.206

Published: 2015

Journal Articles

ASH1L: A Novel Beta-Globin Gene Regulator in Humans?

Amandine Breton, PhD, Laura Sonzogni, PhD, Andria Theodorou, PhD, Suleyman Aktuna, PhD, Stephan Menzel, PhD, Frank Grosveld, PhD, Sjaak Philipsen, PhD, Swee Lay Thein, MD DSc

Blood (2015) 126 (23): 641.

https://doi.org/10.1182/blood.V126.23.641.641

Published: 2015

Journal Articles

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

Felipe R Lorenzo, PhD, Tsewang Tashi, MD, Parvaiz Koul, MD, Nicola J Camp, PhD, Perumal Thiagarajan, MD, Josef T. Prchal, MD

Blood (2014) 124 (21): 4211.

https://doi.org/10.1182/blood.V124.21.4211.4211

Published: 2014

Journal Articles

Variants in ADAMTS13 and Smoking Contribute to Plasma ADAMTS13 Level Variation

Karl C. Desch, MD, Qianyi Ma, PhD, Ayse Bilge Ozel, PhD, Beth M McGee, David R Siemieniak, BS, Jun Z Li, PhD, David Ginsburg, MD

Blood (2014) 124 (21): 2835.

https://doi.org/10.1182/blood.V124.21.2835.2835

Published: 2014

Journal Articles

Genetic variants in PLG , LPA , and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels

Qianyi Ma, Ayse B. Ozel, Shweta Ramdas, Beth McGee, Rami Khoriaty, David Siemieniak, Hong-Dong Li, Yuanfang Guan, Lawrence C. Brody, James L. Mills, Anne M. Molloy, David Ginsburg, Jun Z. Li, Karl C. Desch

Blood (2014) 124 (20): 3155–3164.

https://doi.org/10.1182/blood-2014-03-560086

Published: 2014

Includes: Supplemental data

Journal Articles

Germline RBBP6 Mutations In Myeloproliferative Neoplasms

Blood (2013) 122 (21): 267.

https://doi.org/10.1182/blood.V122.21.267.267

Published: 2013

Journal Articles

Hereditary Thrombocytosis Caused By a Novel Germ-Line Mutation In The Gelsolin Gene

Annalisa Pianta, PhD, Kun Liu, PhD, Pontus Lundberg, PhD, Takafumi Shimizu, PhD, Hui Hao-Shen, Stephan Dirnhofer, MD, Robert Kralovics, PhD, Amy D. Shapiro, MD, Radek C. Skoda, M.D.

Blood (2013) 122 (21): 265.

https://doi.org/10.1182/blood.V122.21.265.265

Published: 2013

Journal Articles

Identification Of The Disease-Causing Mutation In Autosomal Dominant Familial Immune Thrombocytopenia By Genome-Wide Linkage Analysis and Whole Genome Sequencing

Bing Zhang, MD, MS, Yoonha Choi, PhD, Dana Ng, Ziming Weng, PhD, Clara Lo, MD, Yohannes Ghebremariam, PhD, Engin Özkan, PhD, Chun-Ping Liao, Susumu Inoue, MD, Joachim Hallmayer, MD, PhD, Christopher Garcia, PhD, John Cooke, MD, PhD, Hua Tang, PhD, Arend Sidow, PhD, James L. Zehnder, MD

Blood (2013) 122 (21): 565.

https://doi.org/10.1182/blood.V122.21.565.565

Published: 2013

Journal Articles

GFI1B Mutation Causes a Platelet Function Defect With Reduced Alpha-Granule Content and Abnormal Aggregation Response

Christopher M Ward, MB, CHB, PhD, Marie-Christine Morel-Kopp, PhD, Qiang Chen, BMed MSc, Hai Po Liang, PhD, Ashley P. Ng, MBBS, BMedSc, PhD, FRACP, FRCPA, Andrew W. Roberts, MBBS, PhD, Melanie Bahlo, PhD, William s Stevenson, MBBS, PhD

Blood (2013) 122 (21): 566.

https://doi.org/10.1182/blood.V122.21.566.566

Published: 2013

Journal Articles

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Blood (2013) 122 (21): 439.

https://doi.org/10.1182/blood.V122.21.439.439

Published: 2013

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

A Dominant-Negative GFI1B Mutation in Gray Platelet Syndrome

Blood (2013) 122 (21): LBA-3.

https://doi.org/10.1182/blood.V122.21.LBA-3.LBA-3

Published: 2013

Journal Articles

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene

Silva Saarinen, Eevi Kaasinen, Marja-Liisa Karjalainen-Lindsberg, Kari Vesanen, Mervi Aavikko, Riku Katainen, Minna Taskinen, Soili Kytölä, Sirpa Leppä, Marja Hietala, Pia Vahteristo, Lauri A. Aaltonen

Blood (2013) 121 (17): 3428–3430.

https://doi.org/10.1182/blood-2012-06-437210

Published: 2013

Includes: Supplemental data

Journal Articles

Genetic Diagnosis of Inherited Bleeding Disorders in 1250 Probands From India: A Single Centre Experience

Giridhara R Jayandharan, Ph.D, Govindanattar Sankari Devi, S RajKumar, Everette Nelson, Ramachandran V Shaji, Neeraj Arora, P Shenbagaapriya, Sukesh C Nair, MD, Auro Viswabandya, MD, Biju George, MD, Vikram Mathews, Alok Srivastava, MD

Blood (2012) 120 (21): 1127.

https://doi.org/10.1182/blood.V120.21.1127.1127

Published: 2012

Journal Articles

Familial and Acquired SH2B3 mutations in ALL

Arianne Perez-Garcia, PhD, Charles A. LeDuc, PhD, Kara A. Kelly, MD, Chaim Jalas, Wendy K Chung, MD, PhD, Adolfo A. Ferrando, MD, PhD

Blood (2012) 120 (21): 1326.

https://doi.org/10.1182/blood.V120.21.1326.1326

Published: 2012

Journal Articles

Genetic Determinants of Plasma Von Willebrand Factor (VWF) and VWF Propeptide Levels

Karl C. Desch, MD, Ayse Bilge Ozel, PhD, David R Siemieniak, BS, Jun Z Li, PhD, David Ginsburg, MD

Blood (2012) 120 (21): 3313.

https://doi.org/10.1182/blood.V120.21.3313.3313

Published: 2012

NARROW

Large-Scale Linkage Analysis of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS) Families

A Gain-of-Function Mutation in EPO Gene Causes Familial Erythrocytosis

Non-Pathogenic Antibodies in HIT: Clustering for Clarity

Impairment of IL-17 Immunity to Candida and IFN-g Immunity to Mycobacterium in Humans with Bi-Allelic Rorc mutations

Dominant NFKB1 Mutations Cause Antibody Deficiency and Autoinflammatory Episodes

ASH1L: A Novel Beta-Globin Gene Regulator in Humans?

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

Variants in ADAMTS13 and Smoking Contribute to Plasma ADAMTS13 Level Variation

Genetic variants in PLG , LPA , and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels

Germline RBBP6 Mutations In Myeloproliferative Neoplasms

Hereditary Thrombocytosis Caused By a Novel Germ-Line Mutation In The Gelsolin Gene

Identification Of The Disease-Causing Mutation In Autosomal Dominant Familial Immune Thrombocytopenia By Genome-Wide Linkage Analysis and Whole Genome Sequencing

GFI1B Mutation Causes a Platelet Function Defect With Reduced Alpha-Granule Content and Abnormal Aggregation Response

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

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

A Dominant-Negative GFI1B Mutation in Gray Platelet Syndrome

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene

Genetic Diagnosis of Inherited Bleeding Disorders in 1250 Probands From India: A Single Centre Experience

Familial and Acquired SH2B3 mutations in ALL

Genetic Determinants of Plasma Von Willebrand Factor (VWF) and VWF Propeptide Levels

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American Society of Hematology

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