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William A. Gahl
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Journal Articles

A Freeze-Dried Platelet-Derived Hemostat Decreases Bleeding in a Novel Murine Model of Type 1 Hermansky-Pudlak Syndrome

Keith Moskowitz, Lisa Booth, Molly Behan, Gustavo Nieto-Alamilla, Madison Laroche, Meredith Brown, William A. Gahl, May Christine Malicdan
Journal: Blood
Blood (2024) 144 (Supplement 1): 2550.
https://doi.org/10.1182/blood-2024-203765
Published: 2024
Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig
Journal: Blood
Blood (2021) 137 (3): 349–363.
https://doi.org/10.1182/blood.2020007292
Published: 2021
Includes: Supplemental data
Journal Articles

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Nagabhishek Moka, MD, Dong Chen, MD PhD, Chen Han, Kevin J O'Brien, ANP, Sara Haroutinian, Laryssa Huryn, Wendy Introne, MD, Ellen Macnamara, William A. Gahl, MD PhD, May Christine Malicdan, Bernadette Gochuico, MD, Koyamangalath Krishnan, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1153.
https://doi.org/10.1182/blood-2018-99-109829
Published: 2018
Journal Articles

GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication

Shirley M. Abraham, MD, Dong Chen, MD PhD, Karen Simon, Thomas Markello, William A. Gahl
Journal: Blood
Blood (2016) 128 (22): 3727.
https://doi.org/10.1182/blood.V128.22.3727.3727
Published: 2016
Journal Articles

Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

Benjamin Heath Durham, MD BS, Eli L. Diamond, MD, Julien Haroche, MD PhD, Zhan Yao, PhD, Jing Ma, PhD, Sameer A. Parikh, MD, John Choi, Eunhee Kim, PhD, Fleur Cohen-Aubart, Stanley Chun-Wei Lee, Yijun Gao, Jean-Baptiste Micol, MD, Patrick Campbell, MD PhD, Michael P. Walsh, Brooke Sylvester, Igor Dolgalev, Aminova Olga, Adriana Heguy, Paul Zappile, Joy Nakitandwe, BSc,MSc,PhD, James Dalton, BS, David W Ellison, MD, Juvianee Estrada-Veras, Mario Lacouture, William A. Gahl, MD PhD, Phil Stephens, PhD, Vincent A. Miller, MD, Jeffrey Ross, Siraj Ali, Sebastien Héritier, Jean Donadieu, MD PhD, David Solit, MD, David M. Hyman, Jose Baselga, MD PhD, Filip Janku, MDPhD, Barry S. Taylor, PhD, Christopher Y. Park, MD, PhD, Ahmet Dogan, MD PhD, Zahir Amoura, Jean-Francois Emile, Raajit K. Rampal, MD, PhD, Neal Rosen, MD PhD, Tanja A. Gruber, MD PhD, Omar Abdel-Wahab
Journal: Blood
Blood (2015) 126 (23): 481.
https://doi.org/10.1182/blood.V126.23.481.481
Published: 2015
Journal Articles

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

Birthe Jessen, Sebastian F. N. Bode, Sandra Ammann, Subarna Chakravorty, Graham Davies, Jana Diestelhorst, Melissa Frei-Jones, William A. Gahl, Bernadette R. Gochuico, Matthias Griese, Gillian Griffiths, Gritta Janka, Christoph Klein, Tamara Kögl, Karin Kurnik, Kai Lehmberg, Andrea Maul-Pavicic, Andrew D. Mumford, David Pace, Nima Parvaneh, Nima Rezaei, Geneviève de Saint Basile, Annette Schmitt-Graeff, Klaus Schwarz, Gulsun T. Karasu, Barbara Zieger, Udo zur Stadt, Peter Aichele, Stephan Ehl
Journal: Blood
Blood (2013) 121 (15): 2943–2951.
https://doi.org/10.1182/blood-2012-10-463166
Published: 2013
Includes: Supplemental data
Journal Articles

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, Dan Geiger, Mualla Cetin, Morad Khayat, Robert Kleta, Nehama Kfir, Yair Anikster, Judith Chezar, Mauricio Arcos-Burgos, Adel Shalata, Horia Stanescu, Joseph Manaster, Mutlu Arat, Hailey Edwards, Andrew S. Freiberg, P. Suzanne Hart, Lauren C. Riney, Katherine Patzel, Pranoot Tanpaiboon, Tom Markello, Marjan Huizing, Irina Maric, McDonald Horne, Beate E. Kehrel, Kerstin Jurk, Nancy F. Hansen, Praveen F. Cherukuri, Marypat Jones, Pedro Cruz, Jim C. Mullikin, Alan Nurden, James G. White, William A. Gahl, Tzippora Falik-Zaccai
Journal: Blood
Blood (2010) 116 (23): 4990–5001.
https://doi.org/10.1182/blood-2010-05-286534
Published: 2010
Includes: Supplemental data
Journal Articles

Reduced Number of Dense Bodies and Reduced Serotonin Content in Platelets of Patients with Wiskott-Aldrich Syndrome.

Robert A. Sokolic, Thomas Markello, Marcy Krumwiede, Roxanne Fischer, Elizabeth Garabedian, William A. Gahl, James G. White, Fabio Candotti
Journal: Blood
Blood (2009) 114 (22): 1321.
https://doi.org/10.1182/blood.V114.22.1321.1321
Published: 2009
Journal Articles

The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules

Sreenivasulu Chintala, Jian Tan, Rashi Gautam, Michael E. Rusiniak, Xiaoli Guo, Wei Li, William A. Gahl, Marjan Huizing, Richard A. Spritz, Saunie Hutton, Edward K. Novak, Richard T. Swank
Journal: Blood
Blood (2006) 109 (4): 1533–1540.
https://doi.org/10.1182/blood-2006-08-040196
Published: 2006
Journal Articles

Platelet Cellular Prion Protein (PRPC) Is Associated with alpha Granules.

Karel Holada, PhD, Adela Brouckova, MS, Jan Simak, PhD, William A. Gahl, MD, Jaroslav G. Vostal, MD, PhD
Journal: Blood
Blood (2004) 104 (11): 3882.
https://doi.org/10.1182/blood.V104.11.3882.3882
Published: 2004
Journal Articles

Reduced pigmentation ( rp ), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

Babette Gwynn, Jose A. Martina, Juan S. Bonifacino, Elena V. Sviderskaya, M. Lynn Lamoreux, Dorothy C. Bennett, Kengo Moriyama, Marjan Huizing, Amanda Helip-Wooley, William A. Gahl, Lisa S. Webb, Amy J. Lambert, Luanne L. Peters
Journal: Blood
Blood (2004) 104 (10): 3181–3189.
https://doi.org/10.1182/blood-2004-04-1538
Published: 2004
Journal Articles

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

Steven L. Ciciotte, Babette Gwynn, Kengo Moriyama, Marjan Huizing, William A. Gahl, Juan S. Bonifacino, Luanne L. Peters
Journal: Blood
Blood (2003) 101 (11): 4402–4407.
https://doi.org/10.1182/blood-2003-01-0020
Published: 2003