-Author name in bold denotes the presenting author
-Asterisk * with author name denotes a Non-ASH member
Clinically Relevant Abstract denotes an abstract that is clinically relevant.

PhD Trainee denotes that this is a recommended PHD Trainee Session.

Ticketed Session denotes that this is a ticketed session.

509.P1.35 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Poster I

Symposia: Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital Program: Oral and Poster Abstracts
Type: Poster
Saturday, December 9, 2023: 5:30 PM-7:30 PM
Halls G-H (San Diego Convention Center)

Raymond T. Doty, PhD*, Adam D. Munday, PhD*, Hannah Cottnair, BS*, Sarah E. Funk, MS* and Janis L. Abkowitz, MD

Department of Medicine, University of Washington, Seattle, WA

Christopher M. Sande, MD1, Stone Chen2*, Dana V Mitchell, PhD3*, Ping Lin2,4*, Rujul Jagdish Deolikar2*, Colby Freeman2*, Mary Zhou2*, Sushant Kumar, PhD2*, Shannon Zheng2*, Bolormaa Munkhbileg, MD, MMS2,4*, Natasha L Stanley2,5, Kathy Guo2*, Ryan Hausler, MS2*, Deanne M Taylor, PhD3,6*, James Corines, DO1*, Jennifer JD Morrissette, PhD1*, David B Lieberman1*, Guang Yang, MD, PhD1*, Kelcy Smith-Simmer, MMSc, CGC7*, Lauren G Banaszak, MD7, Kyle Shoger7*, Peter Nicholas4,8*, Amanda J Walne, PhD9*, Inderjeet Dokal, MD9, Justin Rosenheck, DO10*, Jane E Churpek, MD, MS7, F Bradley Johnson, MD, PhD1*, Timothy S Olson, MD, PhD4,8 and Daria V Babushok, MD, PhD2,4

1Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA
2Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA
3Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA
4Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, PA
5Department of Pediatrics, Children's Hospital of Pennsylvania, Philadelphia, PA
6Department of Pediatrics, Hospital of the University of Pennsylvania, Philadelphia, PA
7Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, University of Wisconsin-Madison, Madison, WI
8Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA
9Blizard Institute Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
10Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, The Ohio State University, Columbus, OH

Jose Maria Bastida, MD, PhD1*, Ana Marín-Quílez2*, Ana Zamora2*, Maria Rocio Benito Sanchez, PhD3*, Agustín Rodriguez Alen4*, Teresa Sevivas5*, Pedro Luis Gómez-González2*, Lorena Díaz-Ajenjo3*, Nora Butta, PhD6*, Rosa M. Campos7*, Paola Escribano8*, Jorge Huertas-Aragoneses9*, Monica Lopez-Duarte10*, Antonio León11*, Angela Mompel12*, Raquel De Oña Navarrete, MD13*, Irene Peláez-Pleguezuelos14*, Fernando Jesús Ramos-Ortega, MD15*, Elena Sebastian16*, Claudia Serrano17*, Cristina Sierra-Aisa18*, Pablo Velasco, MD19, Laura Murillo19*, Rosa Vidal-Laso20*, Meritxell Nomdedeu, MD21*, Jordi Esteve Reyner, MD22*, Jesús María Hernández-Rivas, PhD23, Jose Rivera Pozo, PhD2* and Maria Luisa Lozano, MD, PhD24*

1Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, Spain
2Centro Regional de Hemodonación, Murcia, Spain
3Hospital Universitario De Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, Spain
4Servicio De HematologíA Y Hemoterapia, Hospital Virgen De La Salud, Compl, Toledo, ESP
5Complejo Hospitalario de Coimbra, Coimbra, Portugal
6IdiPAZ, Madrid, Spain
7Hospital Universitario de Jerez de la Frontera, Jerez de la Frontera, Spain
8Hospital General Río Carrión, Palencia, Spain
9Hospital Materno-Infantil Gregorio Marañón, Madrid, Spain
10University Hospital Marqués De Valdecilla - IDIVAL, Santander, ESP
11Hospital General de La Gomera, La Gomera, Spain
12Hospital General Universitario de Elche, Elche, Spain
13Hospital MD Anderson Cancer Center, Madrid, AL, ESP
14Hospital Universitario Virgen de las Nieves, Granada, Spain
15Hospital Universitario de León, León, Spain
16Hospital Infantil Universitario Niño Jesús, Madrid, ESP
17Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
18Hospital Universitario de Cruces, Barakaldo, Spain
19Hospital Universitario Vall d'Hebron, Barcelona, Spain
20Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
21Hematopoietic Cell Transplantation Unit, Hospital Clínic de Barcelona, ICHMO, Barcelona, Spain
22Hospital Clínic de Barcelona, Barcelona, Spain
23Department of Medicine, Hematology Department, Hospital Universitario de Salamanca, Salamanca, Spain
24Servicio de Hematología, Hospital General Universitario Morales Messeguer, Centro Regional de Hemodonación, IMIB-Pascual Parrilla, CIBERER-ISCIII, Universidad de Murcia, Murcia, Spain

Nicholas F. DeCleene, BS1,2, Elif Asik, PhD1,2*, Anthony Sanchez, PhD3*, Nimrat Chatterjee, PhD1,2*, Kyle M. Miller, PhD3*, Yu-Hsiu Wang, PhD4* and Alison A. Bertuch, MD, PhD2,5

1Department of Pediatrics, Baylor College of Medicine, Houston, TX
2Cancer and Hematology Center, Texas Children's Hospital, Houston, TX
3Department of Molecular Biosciences, The University of Texas at Austin, Austin, TX
4Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX
5Hematology/Oncology, Baylor College of Medicine, Houston, TX

Liying Guan, PhD1*, Fabiola Del Carpio-Cano1*, Deepak Voora, MD2*, Rachel Myers, PhD2* and Angara Koneti Rao, MBBS3

1Sol Sherry Thrombosis Research Center, Lewis Katz School of Medicine at Temple University, Philadelphia, PA
2Duke University, Durham, NC
3Sol Sherry Thrombosis Research Center and Hematology Division, Lewis Katz School of Medicine, Temple University, Philadelphia, PA

Marta Bortolotti1*, Roochi Trikha2*, Sarah Salter3*, Joanna Large4*, Shreyans Gandhi5*, Bruno Fattizzo, MD6, Wilma Barcellini, MD7* and Austin Kulasekararaj, MD, MBBS, FRCPath, MRCP8

1FONDAZIONE IRCCS CA' GRANDA OSPEDALE MAGGIORE POLICLINICO and UNIVERSITY OF MILA, MILANO, Italy
2King's College Hospital NHS Foundation Trust, London, GBR
3King's College Hospital, London, GBR
4King's College Hospital NHS Foundation Trust, London, United Kingdom
5Department of Haematological Medicine, King's College Hospital NHS, London, United Kingdom
6Department of Oncology and Onco-hematology, FONDAZIONE IRCCS CA' GRANDA OSPEDALE MAGGIORE POLICLINICO, Milano, Italy
7Hematology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
8Department of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, ENG, United Kingdom

Brijendra Singh, PhD1*, Carlo Salas Salinas2*, Md Akram Hossain, PhD2*, Christopher Millington, PhD3*, Ketan Patel4* and Wei Tong, PhD1,5

1Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA
2Children's Hospital of Philadelphia, Philadelphia, PA
3MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
43MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
5Division of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

Damian Krzyzanowski, PhD1*, Sushree S Sahoo, PhD1, Lili Kotmayer, MD, PhD1*, Masanori Yoshida, MD, PhD2*, Majd Khiami, MD1, Alessandra Giorgetti, PhD3*, Shengdar Q Tsai, PhD1, Senthil V. Bhoopalan, MBBS, PhD4*, Jonathan S Yen, PhD1 and Marcin W. Wlodarski, MD, PhD5

1Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN
2Department of Hematology, St. Jude Children’s Research Hospital, Memphis, TN
3Bellvitage Institute for Biomedical Research (IDIBELL), Barcelona, Spain
4St Jude Children's Research Hospital, Memphis, TN
5St. Jude Children's Research Hospital, Memphis, TN

Manabu Wakamatsu, MD.PhD1*, Hideki Muramatsu, MD, PhD1, Hironori Sato, MD.PhD2,3*, Masaki Ishikawa3*, Daisuke Nakajima3*, Ryo Konno3*, Yusuke Kawashima3*, Motoharu Hamada, MD.PhD4*, Yusuke Okuno, MD, PhD4*, Osamu Ohara3* and Yoshiyuki Takahashi, MD, PhD1

1Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
2Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan
3Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan
4Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan

Apichat Photia, M.D.1,2,3*, Mariana Benicio, PhD1*, Efe Sahinoglu4,5*, Hongbing Li1,3*, Richard Neil Armstrong, PhD, BSc6*, Houtan Moshiri7*, Robert J. Klaassen, MD, FRCPC8, Yves D Pastore, MD9, John E. Dick, PhD10,11 and Yigal Dror, MD, FRCPC1,3,12

1Genetics & Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
2Hematology Program, Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital, Bangkok, Thailand
3Marrow Failure and Myelodysplasia Program, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada
4Genetics & Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada
5Department of Cell & Systems Biology, University of Toronto, Troronto, ON, Canada
6Genetics & Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, CAN
7Hospital For Sick Children, Toronto, ON, CAN
8Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
9CHU Sainte-Justine, Montreal, QC, Canada
10Department of Molecular Genetics, University of Toronto, Princess Margaret Cancer Centre, University Health Network, Toronto, ON, CAN
11Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
12Institute of Medical Science, University of Toronto, Toronto, ON, Canada

Rachel A Simon1*, Christy M Finke2*, Terra L. Lasho, PhD2, Christopher T. Schmitz3*, Jenna A Fernandez, PhD4, Eva M Carmona-Porquera4*, Mark E Wylam, M.D.5*, Thomas E. Witzig, MD4, Tammy M McAllister, M.A.6*, Carolyn R. Rohrer Vitek, Ed.D. / M.S.6*, Konstantinos N Lazaridis4*, Abhishek A Mangaonkar, MBBS1, Mrinal M. Patnaik, MD, MBBS1 and Alejandro Ferrer, PhD4

1Division of Hematology, Mayo Clinic, Rochester, MN
2Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN
3Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN
4Mayo Clinic, Rochester, MN
5Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN
6Center for Individualized Medicine, Mayo Clinic, Rochester, MN

Lili PAN, MD, PhD1,2*, Yining Li2*, Huiying Gao, MD2*, Yuanhua Cai, MD, PhD1,2*, Xiaolin Lai, MD, PhD1,3*, Zhixiang Chen, MD1,2*, Xiaofan Li, MD, PhD1,2 and Shaoyuan Wang, MD1,2*

1Department of Hematology, Fujian Institute of Hematology, Fujian Provincial Key Laboratory on Hematology, Fujian Medical University Union Hospital, Fuzhou, China
2Union Clinical Medical Colleges, Fujian Medical University, Fuzhou, China
3Fujian Medical University Union Hospital,Fujian Institute of Hematology, Fuzhou, China

*signifies non-member of ASH