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Journal Articles

De Novo Point Mutation of RPL31 in Diamond-Blackfan Anaemia: A Story from Patient to Zebrafish

Yuanyuan Zhu, MD, Honghu Li, doctoral student, Weiyan Zheng, MD, Shuyang Cai, doctoral student, Yibo Wu, doctoral student, He Huang

Blood (2019) 134 (Supplement_1): 5018.

https://doi.org/10.1182/blood-2019-129708

Published: 2019

Journal Articles

NCAPD3 Regulates Tumor Growth and Predicts Prognosis in Diffuse Large B-Cell Lymphoma

Juan Yang, MM, Ying Li, MD, Ya Zhang, MD, Xiangxiang Zhou, MD, Yi Zhao, MM, Yang Han, MM, Jiarui Liu, MM, Xin Wang, MD PhD

Blood (2019) 134 (Supplement_1): 5045.

https://doi.org/10.1182/blood-2019-123910

Published: 2019

Journal Articles

Mcph1 , Mutated in Primary Microcephaly, Is Required to Complete Terminal Erythroid Differentiation

Yoann Vial, PharmD, Jeannette Nardelli, PhD, Justine Rousselot, Emilie Lepeu, Michele Souyri, PhD, Sandrine Passemard, MD PhD, Helene Cave, PharmD, PhD, Severine Drunat, PharmD, PhD

Blood (2019) 134 (Supplement_1): 1192.

https://doi.org/10.1182/blood-2019-126475

Published: 2019

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Marcin W. Wlodarski, MD PhD, Lydie M. Da Costa, MD PhD, Marie-Francoise O'-Donohue, Marc Gastou, Ina Hainmann, Enikoe Amina Szvetnik, Thierry Leblanc, MD, Marc Bierings, MD PhD, Nathalie Montel-Lehry, Hannah Tamary, MD, Charlotte M. Niemeyer, MD, Pierre-Emmanuel Gleizes, Alyson W. MacInnes

Blood (2017) 130 (Supplement 1): 1172.

https://doi.org/10.1182/blood.V130.Suppl_1.1172.1172

Published: 2017

Journal Articles

Zika Virus Infection Activates Proinflammatory Cytokines and Triggers Monocyte Differentiation

Svetlana Khaiboullina, DrSci, MD, Timsy Uppal, Rupa Sarkar, Konstantin Kletenkov, PhD, Stephen St Jeor, Albert Rizvanov, DSc, PhD, Subhash Verma, Andrew Gorzalski

Blood (2017) 130 (Supplement 1): 2290.

https://doi.org/10.1182/blood.V130.Suppl_1.2290.2290

Published: 2017

Journal Articles

The Clinical and Hematologic Course of Fanconi Anemia Amongst Affected Siblings

Moonjung Jung, MD, Ozgur Rosti, MD, Caroline S Jiang, PhD, Joel Correa da Rosa, PhD, Arlene D. Auerbach, PhD, Agata Smogorzewska, MD PhD, Farid Boulad, MD

Blood (2017) 130 (Supplement 1): 1185.

https://doi.org/10.1182/blood.V130.Suppl_1.1185.1185

Published: 2017

Journal Articles

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

Inderjeet Dokal, MD

Blood (2017) 130 (Supplement 1): SCI-22.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-22.SCI-22

Published: 2017

Journal Articles

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Marion Eveillard, PharmD, PhD, Myriam Chevalier, Thomas Besnard, Benjamin Cogne, Alice Kuster, Stephane Bezieau, Marie C Bene, PharmSciD, PhD, Claire Beneteau

Blood (2016) 128 (22): 1331.

https://doi.org/10.1182/blood.V128.22.1331.1331

Published: 2016

Journal Articles

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

Sushree Sangita Sahoo, MSc., Caitlin Roake, B.S., Liliana Rindle, MD, Claudia Rössig, MD, Markus Schmugge, MD, Victor B Pastor, M.Sc., Brigitte Strahm, MD, Marena R Niewisch, MD, Gunda Ruzaike, BSc., Steven Artandi, MD PhD, Charlotte M Niemeyer, Prof, MD, Melanie Börries, MD PhD, Hauke Busch, PhD, Marcin Wlodarski, MD

Blood (2016) 128 (22): 3890.

https://doi.org/10.1182/blood.V128.22.3890.3890

Published: 2016

Journal Articles

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu

Blood (2016) 128 (22): 5073.

https://doi.org/10.1182/blood.V128.22.5073.5073

Published: 2016

Journal Articles

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Blanche P Alter, MD MPH, Bari J Ballew, PhD, Neelam Giri, MD, Settara Chandrasekharappa, PhD, Najim Ameziane, PhD, Johan de Winter, PhD, Sharon A Savage, MD

Blood (2015) 126 (23): 4780.

https://doi.org/10.1182/blood.V126.23.4780.4780

Published: 2015

Journal Articles

Autologous Cord Blood Infusion for the Treatment of Brain Injury in Children with Cerebral Palsy

Jessica Sun, MD, Mohamad Mikati, MD, Jesse Troy, PhD, Kathryn Gustafson, PhD, Ryan Simmons, MS, Ricki Goldstein, MD, Jodi Petry, MS, OTR/L, Colleen McLaughlin, DNP, Barbara Waters-Pick, BS, MT(ASCP), Laura Case, PT, DPT, Gordon Worley, MD, Joanne Kurtzberg, MD

Blood (2015) 126 (23): 925.

https://doi.org/10.1182/blood.V126.23.925.925

Published: 2015

Journal Articles

Gβ1 a Component Of The Heterotrimeric G Protein Is a New Protein Phosphatase 1c Interacting Protein That Regulates Platelet Activation

Subhashree Pradhan, Ph.D., Tanvir Khatlani, Ph.D, Satya P. Kunapuli, PhD, K. Vinod Vijayan, PhD

Blood (2013) 122 (21): 3508.

https://doi.org/10.1182/blood.V122.21.3508.3508

Published: 2013

Journal Articles

Disregulated Osteogenesis By Mesenchymal Stromal Cells (MSC) After In Vivo Exposure To Multiple Myeloma: Studies In a Novel Humanized Mouse Model For Bone Remodelling In Myeloma

Richard W.J. Groen, PhD, Willy A. Noort, PhD, Jessica Sigmans, Aniek van Stralen, Linda Aalders, Reinier Raymakers, MD, PhD, Huipin Yuan, PhD, Constantine S. Mitsiades, MD, PhD, Anton Martens, PhD

Blood (2013) 122 (21): 1906.

https://doi.org/10.1182/blood.V122.21.1906.1906

Published: 2013

Journal Articles

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Chaim Jalas, Anastasia Fedick, Bari J Ballew, PhD, Blanche P Alter, MD, MPH, Neelam Giri, MD, Simon Boulton, Kenneth Offit, John Petrini, PhD, Nathan Treff, Sharon A Savage, MD

Blood (2013) 122 (21): 1228.

https://doi.org/10.1182/blood.V122.21.1228.1228

Published: 2013

Journal Articles

Conditional Deletion of Asxl1 Results in Myelodysplasia

Omar Abdel-Wahab, M.D., Jie Gao, PhD, Mazhar Adli, PhD, Young Rock Chung, MSc, Richard Koche, PhD, Alan H. Shih, MD, PhD, Suveg Pandey, BSc, Lindsay M. La-Fave, PhD, Delphine Ndiaye-Lobry, Yu Sup Shin, BSc, Parva K. Bhatt, BSc, Jay P. Patel, Xinyang Zhao, PhD, Christopher Y. Park, MD, PhD, Jacob D. Jaffe, PhD, Bradley E. Bernstein, MD, PhD, Iannis Aifantis, PhD, Ross L. Levine

Blood (2012) 120 (21): 308.

https://doi.org/10.1182/blood.V120.21.308.308

Published: 2012

Journal Articles

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

M. Monica Gramatges, MD, Xiaodong Qi, Ghadir S. Sasa, MD, Julian J-L Chen, PhD, Alison A. Bertuch, MD, PhD

Blood (2012) 120 (21): 1272.

https://doi.org/10.1182/blood.V120.21.1272.1272

Published: 2012

Journal Articles

Lymphoma in Pregnancy: Excellent Fetal Outcomes and Maternal Survival in a Large Multicenter Analysis

Andrew M. Evens, DO, MSc, Ranjana Advani, MD, Izidore S Lossos, MD, Oliver W. Press, MD, PhD, Julie M Vose, MD, Francisco J. Hernandez-Ilizaliturri, MD, Barrett K Robinson, MD, MPH, Stevie Otis, MD, Liat Nadav Dagan, MD, PhD, Ramsey Abdallah, CRC, Aimee Kroll, MS, Jose Sandoval, MD, Jessica L Yarber, MD, Kelley V. Foyil, MS, Linda M Parker, Leo I. Gordon, MD, FACP, John P. Leonard, MD, Thomas M. Habermann, MD, Nancy L. Bartlett, MD

Blood (2011) 118 (21): 94.

https://doi.org/10.1182/blood.V118.21.94.94

Published: 2011

Journal Articles

High Incidence of Fanconi Anemia in Patients with a Morphological Picture Consistent with Refractory Cytopenia of Childhood

Ayami Yoshimi, MD, PhD,, Charlotte M. Niemeyer, MD, Irith Baumann, M.D., Stephan Schwarz-Furlan, MD, Detlev Schindler, MD, Wolfram Ebell, MD, Brigitte Strahm, MD

Blood (2011) 118 (21): 2780.

https://doi.org/10.1182/blood.V118.21.2780.2780

Published: 2011

NARROW

De Novo Point Mutation of RPL31 in Diamond-Blackfan Anaemia: A Story from Patient to Zebrafish

NCAPD3 Regulates Tumor Growth and Predicts Prognosis in Diffuse Large B-Cell Lymphoma

Mcph1 , Mutated in Primary Microcephaly, Is Required to Complete Terminal Erythroid Differentiation

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Zika Virus Infection Activates Proinflammatory Cytokines and Triggers Monocyte Differentiation

The Clinical and Hematologic Course of Fanconi Anemia Amongst Affected Siblings

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Novel Fanci Mutations in Fanconi Anemia with Vacterl Association

Autologous Cord Blood Infusion for the Treatment of Brain Injury in Children with Cerebral Palsy

Gβ1 a Component Of The Heterotrimeric G Protein Is a New Protein Phosphatase 1c Interacting Protein That Regulates Platelet Activation

Disregulated Osteogenesis By Mesenchymal Stromal Cells (MSC) After In Vivo Exposure To Multiple Myeloma: Studies In a Novel Humanized Mouse Model For Bone Remodelling In Myeloma

Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry

Conditional Deletion of Asxl1 Results in Myelodysplasia

A Homozygous Telomerase Reverse Transcriptase T Motif Variant Resulting in Markedly Reduced Telomerase Repeat Addition Processivity in Siblings with Hoyeraal Hreidarsson Syndrome

Lymphoma in Pregnancy: Excellent Fetal Outcomes and Maternal Survival in a Large Multicenter Analysis

High Incidence of Fanconi Anemia in Patients with a Morphological Picture Consistent with Refractory Cytopenia of Childhood

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American Society of Hematology

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American Society of Hematology

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