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Journal Articles

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Yvonne Daniel, PhD, Julia Van Campen, PhD, Lee Silcock, Michael Yau, PhD, Joo Wook Ahn, PhD, Caroline Ogilvie, PhD, Kathy Mann, PhD, Eugene Oteng-Ntim, MD PhD

Blood (2019) 134 (Supplement_1): 2085.

https://doi.org/10.1182/blood-2019-127945

Published: 2019

Journal Articles

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, PharmD, Severine Drunat, PharmD, PhD, Serge Pissard, PhD, Thierry Leblanc, MD, Anne Lambilliotte, MD, Catherine Thong Vanh, Caroline Alby, jelena-Hélène martinovic-Bouriel, Chloé Quelin, Mohandas Narla, DSc, Anne Cortey, Lydie Da Costa

Blood (2019) 134 (Supplement_1): 3519.

https://doi.org/10.1182/blood-2019-127432

Published: 2019

Journal Articles

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Anthony Cutts, Dimitrios V. Vavoulis, Mary Petrou, Frances Smith, Barnaby Clark, Shirley Henderson, Anna Schuh

Blood (2019) 134 (14): 1190–1193.

https://doi.org/10.1182/blood.2019002099

Published: 2019

Includes: Supplemental data

Journal Articles

The Importance of Prenatal Diagnosis By Chorionic Villous Sampling in Detecting and Preventing Beta Haemoglobinopathies in a Resource Poor Setting: A Report from Eastern Part of India

Ankita Sen, MD, Rajib De, MD DM, Tuphan Kanti Dolai, MBBS, MD DNB, DM, Prakas Kumar Mandal, MD DM, Shyamali Dutta, MD DM, Shuvra Neel Baul, MD DM, Prantar Chakrabarti, MBBS, MDDNB, DM

Blood (2018) 132 (Supplement 1): 2348.

https://doi.org/10.1182/blood-2018-99-113120

Published: 2018

Journal Articles

A Novel Next-Generation Sequencing Based Assay for Non-Invasive Prenatal Testing of Sickle Cell Disease without Paternal DNA

Nelda Itzep, MD, Celeste K Kanne, BA, David Tsao, PhD, Oguzhan Atay, PhD, Vivien A Sheehan, MD PhD

Blood (2018) 132 (Supplement 1): 2369.

https://doi.org/10.1182/blood-2018-99-115254

Published: 2018

Journal Articles

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Deepak Bansal, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD, Reena Das, MD

Blood (2018) 132 (Supplement 1): 2328.

https://doi.org/10.1182/blood-2018-99-116092

Published: 2018

Journal Articles

KLF1 Mutations Are Not Common in Israel but Can Explain Occasional Cases of Elevated HbA2 or Very Elevated Fetal Hemoglobin

Deborah Rund, MD, Dvora Filon, PhD, Natalie Bloch Isenberg, MD, Neta Goldschmidt, MD

Blood (2018) 132 (Supplement 1): 3640.

https://doi.org/10.1182/blood-2018-99-113903

Published: 2018

Journal Articles

Treatment for X-Linked Agammaglobulinemia with Allogeneic Umbilical Cord Blood Stem Cell Transplantation from HLA-Matched Sibling Confirmed Healthy through Prenatal Diagnosis

Dingming Wan, Ran Zhang, Meng Wang, Li Li, Weijie Cao, Suping Zhang, Kai Sun, MD, Xiaona Chen, Na Zhang

Blood (2018) 132 (Supplement 1): 5771.

https://doi.org/10.1182/blood-2018-99-116135

Published: 2018

Journal Articles

Prenatal Transplantation of Placental Cells Engineered to Express FVIII Leads to Corrective Plasma Levels of FVIII after Birth

M. Graca Almeida-Porada, MD PhD, Sunil George, PhD, Alshaima Morsi, MD, Nadia El-Akabawy, MD, Jorge Figueroa, Jordan E Shields, MS, Diane Meares, Andrew M. Farland, MD, Anthony Atala, MD, Christopher B Doering, PhD, H. Trent Spencer, PhD, Christopher D Porada, PhD

Blood (2017) 130 (Supplement 1): 361.

https://doi.org/10.1182/blood.V130.Suppl_1.361.361

Published: 2017

Journal Articles

Prenatal diagnosis by droplet digital PCR

Margaret V. Ragni

Blood (2017) 130 (3): 240–241.

https://doi.org/10.1182/blood-2017-05-786269

Published: 2017

Journal Articles

Attitudes Toward Prenatal Diagnosis and Pregnancy Management in Carriers of Hemophilia: A Qualitative Analysis Exploring the Views of Carriers in Southern Alberta

Gwynivere A Davies, MDFRCPC, Man-Chiu Poon, MD, Natalia Rydz, MD, M. Dawn Goodyear, MD

Blood (2016) 128 (22): 4742.

https://doi.org/10.1182/blood.V128.22.4742.4742

Published: 2016

Journal Articles

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Edward J Romasko, PhD, Sawona Biswas, MSc MS CGC, Batsal Devkota, PhD, Jayaraman Vijayakumar, Sowmyra Jairam, PhD, Christopher S Thom, MD PhD, Matthew C Dulik, PhD, Laura K Conlin, PhD, Nancy B. Spinner, PhD, Ian D Krantz, MD, Michele P. Lambert, MD MTR

Blood (2016) 128 (22): 3726.

https://doi.org/10.1182/blood.V128.22.3726.3726

Published: 2016

Journal Articles

Earlier Antenatal Diagnosis of Hemoglobinopathies By Coelocentesis

Antonino Giambona, Gianfranca Damiani, Filippo Leto, Cristina Yakil, Cristina Passarello, Valentina Cigna, Giovanna Schillaci, Massimiliano Sacco, Rosario Di Maggio, Angela Vitrano, Aurelio Maggio

Blood (2015) 126 (23): 2133.

https://doi.org/10.1182/blood.V126.23.2133.2133

Published: 2015

Journal Articles

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

Saleh Bhar, MD, Khaled Yassine, MD, Caridad Martinez, MD, Ghadir S. Sasa, MD, Swati Naik, MD, Donald Mahoney, Jr., MD, Alison A Bertuch, MD PhD, Carl Allen, MD PhD, Nabil Ahmed, MD, Meenakshi G. Hegde, MD, Helen E. Heslop, MD, Malcolm K. Brenner, MD PhD, Stephen Gottschalk, MD, Robert A. Krance, MD, Kathryn S. Leung

Blood (2015) 126 (23): 5529.

https://doi.org/10.1182/blood.V126.23.5529.5529

Published: 2015

Journal Articles

Importance of Additional Mutation Analysis in Chorionic Villous Sample for Prenatal Diagnosis of Thalassemia

Soumita Choudhuri, Maitreyee Bhattacharyya, DM, Aditi Sen, Debmalya Bhattacharyya, Siddhartha Sankar Ray, DM

Blood (2015) 126 (23): 4572.

https://doi.org/10.1182/blood.V126.23.4572.4572

Published: 2015

Journal Articles

Mesenchymal Fetal Stem Cells (FMSC) from Amniotic Fluid (AF): Expansion and Phenotypic Characterization

Maria Concetta Renda, Emanuela Fecarotta, Giovanna Schillaci, Filippo Leto, Giuseppina Calvaruso, Giuseppa Maria Garofalo, Angela Piazza, Massimiliano Sacco, Rosario Di Maggio, Angela Vitrano, Aurelio Maggio

Blood (2015) 126 (23): 4758.

https://doi.org/10.1182/blood.V126.23.4758.4758

Published: 2015

Journal Articles

A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia

Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Christopher Wall, Peter Rushton, Margaret Allchurch, Keith Sibson, Claire Jane Hemmaway, MD, Swee Lay Thein, MD DSc, David C. Rees, FRCP, FRCPath, MA, MBBS, Barnaby E. Clark, PhD

Blood (2015) 126 (23): 946.

https://doi.org/10.1182/blood.V126.23.946.946

Published: 2015

Journal Articles

Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes

Blood (2014) 124 (21): 257.

https://doi.org/10.1182/blood.V124.21.257.257

Published: 2014

Journal Articles

Risk Factors for Poor Survival after Hematopoietic Stem Cell Transplantation in Inherited Bone Marrow Failure Syndromes

Blood (2014) 124 (21): 2592.

https://doi.org/10.1182/blood.V124.21.2592.2592

Published: 2014

NARROW

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

The Importance of Prenatal Diagnosis By Chorionic Villous Sampling in Detecting and Preventing Beta Haemoglobinopathies in a Resource Poor Setting: A Report from Eastern Part of India

A Novel Next-Generation Sequencing Based Assay for Non-Invasive Prenatal Testing of Sickle Cell Disease without Paternal DNA

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

KLF1 Mutations Are Not Common in Israel but Can Explain Occasional Cases of Elevated HbA2 or Very Elevated Fetal Hemoglobin

Treatment for X-Linked Agammaglobulinemia with Allogeneic Umbilical Cord Blood Stem Cell Transplantation from HLA-Matched Sibling Confirmed Healthy through Prenatal Diagnosis

Prenatal Transplantation of Placental Cells Engineered to Express FVIII Leads to Corrective Plasma Levels of FVIII after Birth

Prenatal diagnosis by droplet digital PCR

Attitudes Toward Prenatal Diagnosis and Pregnancy Management in Carriers of Hemophilia: A Qualitative Analysis Exploring the Views of Carriers in Southern Alberta

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Earlier Antenatal Diagnosis of Hemoglobinopathies By Coelocentesis

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

Importance of Additional Mutation Analysis in Chorionic Villous Sample for Prenatal Diagnosis of Thalassemia

Mesenchymal Fetal Stem Cells (FMSC) from Amniotic Fluid (AF): Expansion and Phenotypic Characterization

A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia

Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes

Risk Factors for Poor Survival after Hematopoietic Stem Cell Transplantation in Inherited Bone Marrow Failure Syndromes

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American Society of Hematology

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ASH Publications

American Society of Hematology

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