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Journal Articles

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Blood (2022) 139 (16): 2427–2440.

https://doi.org/10.1182/blood.2021010791

Published: 2022

Includes: Supplemental data

Journal Articles

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood (2022) 139 (7): 1039–1051.

https://doi.org/10.1182/blood.2021011980

Published: 2022

Includes: Supplemental data

Journal Articles

EFL1 deficiency: a little is better than nothing

Patrick Revy, Jean Donadieu

Blood (2021) 138 (21): 2016–2018.

https://doi.org/10.1182/blood.2021012724

Published: 2021

Journal Articles

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

Jean-Alain Martignoles, Pierre Hirsch, MD PhD, Blandine Beaupain, Thomas Longval, MD, Nawa Hachem, MsC, Mira El-Khoury, PhD, Sophie Kaltenbach, Jean Soulier, MDPhD, Thierry Leblanc, MD, Pierre Simon Rohrlich, MDPhD, Eric Jeziorski, MDPhD, Isabelle Meyts, Dalila Adjaoud, MD, Vincent Barlogis, MD, PhD, Marlène Pasquet, MD, PhD, Laetitia Largeaud, Flore Sicre de Fontbrune, Claire Fieschi, MD PhD, Virginie Gandemer, MD PhD, Nathalie Aladjidi, MD, Fanny Fouyssac, MD, Guy Leverger, MD, Wadih Abou Chahla, MD, Stephane Blanche, MD, Despina Moushous, MD PhD, Aline Moignet Autrel, MD, Yves Bertrand, MD, Cecile Renard, Pascale Flandrin-Gresta, MD, Jean Louis Stephan, MDPhD, Olivier Tournilhac, MD PhD, Liana Carausu, Frederic Millot, MD, Marielaure Couec, MD, Claude Preudhomme, MD PhD, Hélène Lapillonne, MD PhD, Vahid Asnafi, MD PhD, Patrick Revy, Christine Bellanne-Chantelot, PhD PharmD, Francois Delhommeau, MD PhD, Jean Donadieu, MDPhD

Blood (2020) 136 (Supplement 1): 22–23.

https://doi.org/10.1182/blood-2020-138540

Published: 2020

Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Blood (2019) 134 (3): 277–290.

https://doi.org/10.1182/blood.2018893404

Published: 2019

Includes: Supplemental data

NARROW

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

EFL1 deficiency: a little is better than nothing

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

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ASH Publications

American Society of Hematology

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

EFL1 deficiency: a little is better than nothing

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Email alerts

ASH Publications

American Society of Hematology

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