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Stephen W. Scherer
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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

Bone Marrow Failure and Developmental Delay Caused By Mutations in Poly(A)-Specific Ribonuclease

Santhosh Dhanraj, MSc, Sethu Madhava Rao Gunja, MSc, Adam P Deveau, BScH, MSc, Mikael Nissbeck, MSc, Boonchai Boonyawat, MD, Andrew J Coombs, BScH, Alessandra Renieri, MD, Mafalda Mucciolo, MD, Annabella Marozza, MD, Sabrina Buoni, Lesley Turner, MD, Hongbing Li, PhD, Ameer Jarrar, MSc, Mathura Sabanayagam, BSc, Melanie Kirby, MD, Mary Shago, PhD, Dalila Pinto, PhD, Jason N. Berman, MD, Stephen W. Scherer, PhD FRSC, Anders Virtanen, PhD, Yigal Dror, MD FRCP(C)
Journal: Blood
Blood (2015) 126 (23): 2404.
https://doi.org/10.1182/blood.V126.23.2404.2404
Published: 2015
Journal Articles

Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes

Nicolas Waespe, MD, Santhosh Dhanraj, BSc, MSc, Manju Wahala, MD, Tom Enbar, Bozana Zlateska, Hongbing Li, PhD, Robert J. Klaassen, MD FRCP, Conrad Fernandez, MD, Rochelle Yanofsky, MD FRCP(C), John K. Wu, MBBS, MSc, FRCPC, Yves D. Pastore, MD, Mariana Silva, MD FRCPC, Jeffrey H. Lipton, MD PhD, Josee Brossard, MD, Bruno Michon, MD FRCPC, Sharon Abish, MD, MacGregor Steele, MD FRCP(C), Roona Sinha, MD, Mark J. Belletrutti, MD MSc, Vicky R. Breakey, BSc, MD MD FRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Liat Kofler, Ibrahim A. Ghemlas, MD, Michaela Cada, MD FRCPC, FAAP, MPH, Lillian Sung, MD PhD, Mary Shago, PhD, Stephen W. Scherer, PhD FRSC, Yigal Dror, MD FRCP(C)
Journal: Blood
Blood (2015) 126 (23): 2416.
https://doi.org/10.1182/blood.V126.23.2416.2416
Published: 2015
Journal Articles

Molecular Characterization of Distinct Hot Spot Regions on Chromosome 7q in Myeloid Leukemias.

Konstanze Dohner, MD, Marianne Habdank, Frank G. Rucker, M.D., Simone Miller, Stefan Frohling, M.D., Stephen W. Scherer, Ph.D., Lars Bullinger, M.D., Hartmut Dohner, M.D.
Journal: Blood
Blood (2006) 108 (11): 2349.
https://doi.org/10.1182/blood.V108.11.2349.2349
Published: 2006
Journal Articles

Sequencing the Multiple Myeloma Kinome: Absence of Mutation in Known Malignancy-Associated Kinases.

Jaime O. Claudio, Ph.D., Razi Khaja, B.Sc., Lihua Zhuang, M.D., Meenakshi Bali, B.Sc., Kamalanayani Sivananthan, B.Sc., Constantine C. Christopoulos, B.Sc., Rafael Fonseca, M.D., P. Leif Bergsagel, M.D., Stephen W. Scherer, Ph.D., A. Keith Stewart, M.D.
Journal: Blood
Blood (2004) 104 (11): 783.
https://doi.org/10.1182/blood.V104.11.783.783
Published: 2004
Journal Articles

GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome

Clinical Trials & Observations Brief Report
Johann K. Hitzler, Joseph Cheung, Yue Li, Stephen W. Scherer, Alvin Zipursky
Journal: Blood
Blood (2003) 101 (11): 4301–4304.
https://doi.org/10.1182/blood-2003-01-0013
Published: 2003
Journal Articles

Molecular Cytogenetic Characterization of a Critical Region in Bands 7q35-q36 Commonly Deleted in Malignant Myeloid Disorders

Konstanze Döhner, Jill Brown, Ute Hehmann, Claudia Hetzel, Janet Stewart, Gordon Lowther, Claudia Scholl, Stefan Fröhling, Antonio Cuneo, Lap C. Tsui, Peter Lichter, Stephen W. Scherer, Hartmut Döhner
Journal: Blood
Blood (1998) 92 (11): 4031–4035.
https://doi.org/10.1182/blood.V92.11.4031
Published: 1998
Journal Articles

Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias

Konstanze Fischer, Stefan Fröhling, Stephen W. Scherer, Jill McAllister Brown, Claudia Scholl, Stephan Stilgenbauer, Lap-Chee Tsui, Peter Lichter, Hartmut Döhner
Journal: Blood
Blood (1997) 89 (6): 2036–2041.
https://doi.org/10.1182/blood.V89.6.2036
Published: 1997