1-2 of 2
Supanun Lauhasurayotin
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Re-Analysis of Next Generation Sequencing Gene Panel Data By Normalized Coverage Values Reveals Previously Undetected Copy Number Variations in Inherited Bone Marrow Failure Syndromes

Supanun Lauhasurayotin, MD, Iren Shabanova, Hongbing Li, PhD, Santhosh Dhanraj, PhD, Bozana Zlateska, MD, Robert J Klaassen, MD FRCPC, Conrad Fernandez, FRCPC, MD BSc, Geoff DE Cuvelier, MD FRCP(C), John K. Wu, MBBS, FRCPC, MS, 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,MDFRCPC, Lawrence Jardine, MD BA, FRCPC, Lisa Goodyear, MD FRCPC, Lillian Sung, MD PhD, Mary Shago, PhD, Michaela Cada, MD FRCPC, FAAP, MPH, Scherer W Stephen, Yigal Dror, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2460.
https://doi.org/10.1182/blood.V130.Suppl_1.2460.2460
Published: 2017
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