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Johanna M Rommens
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Journal Articles

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S. Tailor, Joseph Zhou, Roberto Mendoza-Londono, Ajoy Vincent, Peter R. Durie, Stephen W. Scherer, Johanna M. Rommens, Elise Heon, Yigal Dror
Journal: Blood
Blood (2017) 129 (11): 1557–1562.
https://doi.org/10.1182/blood-2016-08-735431
Published: 2017
Includes: Supplemental data
Journal Articles

Deletion of Sbds from Hematopoietic Progenitors Causes Neutropenia in a Mouse Model of Shwachman-Diamond Syndrome By Specifically Blocking Myeloid Lineage Progression at Late Differentiation Stages

Noemi A. Zambetti, Paulina M.H. Van Strien, Marijke G. Valkhof, Maria N. Adisty, Eric M. J. Bindels, PhD, Remco M. Hoogenboezem, Mathijs A. Sanders, MSc, Johanna M. Rommens, PhD, Ivo P. Touw, PhD, Marc H.G.P. Raaijmakers, MD PhD
Journal: Blood
Blood (2014) 124 (21): 355.
https://doi.org/10.1182/blood.V124.21.355.355
Published: 2014
Journal Articles

Lessons from the Mouse Model

Johanna M. Rommens, PhD, Marina E. Tourlakis, MSc, Holly Liu, BSc, Rikesh Gandhi, MSc, Peter R. Durie, MD
Journal: Blood
Blood (2013) 122 (21): SCI-35.
https://doi.org/10.1182/blood.V122.21.SCI-35.SCI-35
Published: 2013
Journal Articles

Persons with Quebec platelet disorder have a tandem duplication of PLAU , the urokinase plasminogen activator gene

Brief Report
Andrew D. Paterson, Johanna M. Rommens, Bhupinder Bharaj, Jessica Blavignac, Isidro Wong, Maria Diamandis, John S. Waye, Georges E. Rivard, Catherine P. M. Hayward
Journal: Blood
Blood (2010) 115 (6): 1264–1266.
https://doi.org/10.1182/blood-2009-07-233965
Published: 2010
Includes: Supplemental data
Journal Articles

Shwachman-Diamond Syndrome: Development of a North American Registry to Assess Long-Term Outcomes, Risk of Leukemia and Other Complications.

Akiko Shimamura, MD, PhD, Audrey Anna Bolyard, R.N., B.S., Tracy M Marrero, Melissa Alvendia, Research, Associate, Lynda Ellis, RN, Johanna M Rommens, Richard E. Harris, MD, Peter Durie, MD, Yigal Dror, MD, David C. Dale, MD
Journal: Blood
Blood (2009) 114 (22): 1363.
https://doi.org/10.1182/blood.V114.22.1363.1363
Published: 2009
Journal Articles

Quebec platelet disorder is linked to the urokinase plasminogen activator gene ( PLAU ) and increases expression of the linked allele in megakaryocytes

Maria Diamandis, Andrew D. Paterson, Johanna M. Rommens, D. Kika Veljkovic, Jessica Blavignac, Dennis E. Bulman, John S. Waye, Francine Derome, Georges E. Rivard, Catherine P. M. Hayward
Journal: Blood
Blood (2009) 113 (7): 1543–1546.
https://doi.org/10.1182/blood-2008-08-175216
Published: 2009
Includes: Supplemental data
Journal Articles

Quebec Platelet Disorder Is Caused by a Cis-Acting Mutation near the Plasminogen Activator Gene (PLAU) That Increases PLAU Transcription by Megakaryocytes.

Maria Diamandis, Andrew D Paterson, PhD, Johanna M Rommens, PhD, D. Kika Veljkovic, MD, Jessica Blavignac, John S Waye, PhD, Francine Derome, Georges E. Rivard, MD, Catherine PM Hayward, MD, PhD
Journal: Blood
Blood (2008) 112 (11): 3394.
https://doi.org/10.1182/blood.V112.11.3394.3394
Published: 2008
Journal Articles

Sbds Deficient Neutrophils Exhibit Normal Numbers, Chemotaxis and Phagocytic Functions, but Impaired NADPH Oxidase Activity.

Siyi Zhang, MSc, Chunxian Sun, MSc, Jian Zhong, BSc, Michael Glogauer, DDS,PhD, Johanna M. Rommens, PhD
Journal: Blood
Blood (2006) 108 (11): 1634.
https://doi.org/10.1182/blood.V108.11.1634.1634
Published: 2006
Journal Articles

Mouse Model for Shwachman-Diamond Syndrome with the R126T Disease Mutation Leads to Severe Growth and Developmental Deficiencies with Impairment of Hematopoiesis.

Siyi Zhang, MSc, Jian Zhong, BSc, Olga I. Gan, PhD, John E. Dick, PhD, Johanna M. Rommens, PhD
Journal: Blood
Blood (2006) 108 (11): 1283.
https://doi.org/10.1182/blood.V108.11.1283.1283
Published: 2006