J. Churpek

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Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.

M. L. Le Beau, J. Vardiman, E. Davis, 2015, Blood.

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

O. Olopade, A. Bertuch, K. Onel, 2013, Leukemia & lymphoma.

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

J. Churpek, A. West, Allison H. West, 2017, Hematology. American Society of Hematology. Education Program.

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

T. Walsh, M. King, S. Steinberg, 2019, Proceedings of the National Academy of Sciences.

The evolving challenge of therapy-related myeloid neoplasms.

R. Larson, J. Churpek, 2013, Best practice & research. Clinical haematology.

Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges

Anna L. Brown, K. Tawana, J. Churpek, 2021, British journal of haematology.

Correspondence Regarding the Consensus Statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues.

M. Bishop, L. Godley, A. Artz, 2016, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Distinct genetic pathways define pre-leukemic and compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Nicholas D. Camarda, S. Carter, M. Norkin, 2020, bioRxiv.

A phase I study of selinexor in combination with high-dose cytarabine and mitoxantrone for remission induction in patients with acute myeloid leukemia

R. Larson, W. Stock, M. Bishop, 2018, Journal of Hematology & Oncology.

Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study

D. Hedeker, O. Olopade, P. Hulick, 2019, Cancer Medicine.

Glucocorticoid receptor expression is associated with inferior overall survival independent of BRCA mutation status in ovarian cancer

S. Conzen, G. Fleming, Lei Huang, 2019, International Journal of Gynecologic Cancer.

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

Soma Das, D. del Gaudio, L. Godley, 2020, Human mutation.

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.

T. Walsh, M. King, R. Larson, 2016, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Approach to the diagnosis of aplastic anemia.

J. Churpek, A. DeZern, 2021, Blood advances.

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

N. Young, G. Alkorta-Aranburu, D. del Gaudio, 2017, Leukemia.

Finding consistency in classifications of myeloid neoplasms: a perspective on behalf of the International Workshop for Myelodysplastic Syndromes

Tae Kon Kim, R. Bejar, O. Abdel-Wahab, 2022, Leukemia.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Anna L. Brown, T. Walsh, M. King, 2016, Blood.

Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

L. Godley, J. Churpek, Allison H. West, 2014, Annals of the New York Academy of Sciences.

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy‐related leukemia

T. Walsh, M. King, M. Churpek, 2016, Cancer.

Validation and clinical application of transactivation assays for RUNX1 variant classification

T. Illig, T. Tvedt, A. Agarwal, 2022, Blood advances.

Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder

K. Onel, Jacqueline S. Garcia, L. Godley, 2010, Leukemia & lymphoma.

Efficacy of single-agent decitabine in relapsed and refractory acute myeloid leukemia

R. Larson, W. Stock, R. Knoebel, 2017, Leukemia & lymphoma.

Germline variants drive myelodysplastic syndrome in young adults

T. Walsh, M. King, K. Döhner, 2021, Leukemia.

Hereditary Hematologic Malignancy Syndromes in Adults: From AYA to AARP

J. Churpek, Luke D. Zurbriggen, K. Smith, 2020 .

Predispositions to Lymphoma: A Practical Review for Genetic Counselors

M. Lenardo, M. Similuk, J. Churpek, 2016, Journal of Genetic Counseling.

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

J. Orange, K. Bhalla, G. Garcia-Manero, 2016, Clinical lymphoma, myeloma & leukemia.

A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels

J. Churpek, Erica F Reinig, Kalyan Nadiminti, 2022, Journal of hematology.

Frequency of incidental pathogenic and likely pathogenic germline variants detected via tumor-only mesothelioma genomic profiling

S. Armato, J. Donington, A. Husain, 2022, medRxiv.

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.

Lauren L. Ritterhouse, D. Huo, Sabah Kadri, 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Recognizing familial myeloid leukemia in adults

L. Godley, J. Churpek, E. Nickels, 2013, Therapeutic advances in hematology.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Nicholas D. Camarda, S. Carter, M. Norkin, 2021, Nature Communications.

Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.

M. Daly, N. Camp, Haiyuan Yu, 2018, Cancer research.

Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

K. Tawana, J. Churpek, M. Drazer, 2018, Leukemia.

Familial myelodysplastic syndrome/acute myeloid leukemia.

J. Churpek, 2017, Best practice & research. Clinical haematology.

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.

Renato Martins, Colin C Pritchard, Stephen J Salipante, 2014, The Journal of molecular diagnostics : JMD.

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

S. Miyano, Y. Shiraishi, K. Chiba, 2015, Cancer cell.

Heritability of hematologic malignancies: from pedigrees to genomics.

K. Onel, J. Churpek, 2010, Hematology/oncology clinics of North America.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

David A. Williams, T. Walsh, M. King, 2015, Nature Genetics.

Transcription factor mutations as a cause of familial myeloid neoplasms.

E. Bresnick, J. Churpek, 2019, The Journal of clinical investigation.

Inherited predisposition to breast cancer among African American women

T. Walsh, M. King, M. Churpek, 2014, Breast Cancer Research and Treatment.

Recognition of familial myeloid neoplasia in adults.

Anna L. Brown, H. Döhner, L. Malcovati, 2017, Seminars in hematology.

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Christopher A. Miller, R. Fulton, D. Koboldt, 2015, Blood.

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Sushant A. Patil, G. Raca, Sabah Kadri, 2018, Blood advances.

68Ga-DOTATATE Avid Metastatic Vertebral Renal Cell Carcinoma in the Setting of von Hippel-Lindau Syndrome

T. Antic, K. Pacak, J. Churpek, 2022, Nuclear Medicine and Molecular Imaging.

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

W. Chung, O. Olopade, K. Nathanson, 2014, Genetics in Medicine.

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.

T. Walsh, M. King, R. Collins, 2020, Blood advances.

Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia.

A. Wickrema, L. Godley, J. Madzo, 2012, Blood.

How I diagnose and manage individuals at risk for inherited myeloid malignancies.

L. Godley, J. Churpek, 2016, Blood.

Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations.

Lauren L. Ritterhouse, N. Smith, Sabah Kadri, 2018, JCO precision oncology.

Current landscape of translational and clinical research in myelodysplastic syndromes/neoplasms (MDS): Proceedings from the 1st International Workshop on MDS (iwMDS) Of the International Consortium for MDS (icMDS).

Tae Kon Kim, R. Bejar, O. Abdel-Wahab, 2023, Blood reviews.

Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers

T. Walsh, M. King, O. Olopade, 2018, Clinical Cancer Research.

Discriminating activities of DEAD-Box Helicase 41 from myeloid malignancy-associated germline variants by genetic rescue

S. Keleş, E. Bresnick, J. Churpek, 2022, Leukemia.

Treatment of Acute Promyelocytic Leukemia in Adults.

R. Larson, W. Stock, L. Godley, 2018, Journal of oncology practice.

Role of ASXL1 in Hematopoiesis and Myeloid Diseases.

E. Solary, N. Droin, E. Padron, 2022, Experimental hematology.

Posaconazole–digoxin drug–drug interaction mediated by inhibition of P-glycoprotein

H. Bullard, R. Knoebel, J. Churpek, 2018, Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners.

Surgical phenotype of patients with peritoneal mesothelioma and a germline mutation

A. Husain, H. Kindler, J. Churpek, 2023, Cancer.

Medical and surgical care of mesothelioma patients and their relatives carrying germline BAP1 mutations.

Chuong D. Hoang, V. Rusch, S. Pastorino, 2022, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis

Vanessa L. Horner, R. Kanagal-Shamanna, J. Churpek, 2023, Leukemia.

A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies

A. Hantel, L. Godley, Rafael Márquez, 2014, Leukemia & lymphoma.

An agenda to advance research in myelodysplastic syndromes: a TOP 10 priority list from the first international workshop in MDS

R. Bejar, O. Abdel-Wahab, P. Greenberg, 2022, Blood advances.

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma

S. Armato, J. Donington, A. Husain, 2023, JAMA network open.

Classification, risk stratification and response assessment in myelodysplastic syndromes/neoplasms (MDS): A state-of-the-art report on behalf of the International Consortium for MDS (icMDS).

Tae Kon Kim, R. Bejar, O. Abdel-Wahab, 2023, Blood reviews.

Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.

L. Fleisher, K. Nathanson, S. Domchek, 2023, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.