Malkin, David

Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms

Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F., Nelson, C. E., Kim, D. H., Kassel, J., Gryka, M. A., Bischoff, F. Z., Tainsky, M. A., et al. (1990) · Science

Cancer-related Molecular PathwaysGenetic factors in colorectal cancer

Cited by 3,765

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Schwartzentruber, J., Korshunov, A., Liu, X.-Y., Jones, D. T. W., Pfaff, E., Jacob, K., Sturm, D., Fontebasso, A. M., Quang, D.-A. K., Tönjes, M., et al. (2012) · Nature

Glioma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 2,631

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

Rausch, T., Jones, D. T. W., Zapatka, M., Stütz, A. M., Zichner, T., Weischenfeldt, J., Jäger, N., Remke, M., Shih, D., Northcott, P. A., et al. (2012) · Cell

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 865

Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency

Bouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., et al. (2016) · Journal of Clinical Oncology

Glioma Diagnosis and TreatmentCancer Immunotherapy and Biomarkers

Cited by 857

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

Mack, S. C., Witt, H., Piro, R. M., Gu, L., Zuyderduyn, S., Stütz, A. M., Wang, X., Gallo, M., Garzia, L., Zayne, K., et al. (2014) · Nature

Glioma Diagnosis and TreatmentEpigenetics and DNA Methylation

Cited by 607

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

Villani, A., Shore, A., Wasserman, J. D., Stephens, D., Kim, R. H., Druker, H., Gallinger, B., Naumer, A., Kohlmann, W., Novokmet, A., et al. (2016) · The Lancet Oncology

BRCA gene mutations in cancerCancer-related Molecular Pathways

Cited by 546

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

Kratz, C. P., Achatz, M. I., Brugières, L., Frebourg, T., Garber, J. E., Greer, M.-L. C., Hansford, J. R., Janeway, K. A., Kohlmann, W. K., McGee, R., et al. (2017) · Clinical Cancer Research

Cancer-related Molecular PathwaysMultiple and Secondary Primary Cancers

Cited by 534

Copy number variations and cancer

Shlien, A., & Malkin, D. (2009) · Genome Medicine

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 386

High frequency of germline p53 mutations in childhood adrenocortical cancer

Wagner, J., Portwine, C., Rabin, K., Leclerc, J.-M., Narod, S. A., & Malkin, D. (1994) · JNCI Journal of the National Cancer Institute

Adrenal and Paraganglionic TumorsCancer-related Molecular Pathways

Cited by 227

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Remke, M., Ramaswamy, V., Peacock, J., Shih, D. J. H., Koelsche, C., Northcott, P. A., Hill, N., Cavalli, F. M. G., Kool, M., Wang, X., et al. (2013) · Acta Neuropathologica

Glioma Diagnosis and TreatmentCancer Genomics and Diagnostics

Cited by 164

Provocative questions in osteosarcoma basic and translational biology: A report from the Children's Oncology Group

Roberts, R. D., Lizardo, M. M., Reed, D. R., Hingorani, P., Glover, J., Allen‐Rhoades, W., Fan, T., Khanna, C., Sweet‐Cordero, E. A., Cash, T., et al. (2019) · Cancer

Sarcoma Diagnosis and TreatmentBone Tumor Diagnosis and Treatments

Cited by 127

Detecting and Remediating Harmful Data Shifts for the Responsible Deployment of Clinical AI Models

Subasri, V., Krishnan, A., Kore, A., Dhalla, A., Pandya, D., Wang, B., Malkin, D., Razak, F., Verma, A. A., Goldenberg, A., et al. (2025) · JAMA Network Open

Machine Learning in HealthcareArtificial Intelligence in Healthcare and Education

Cited by 87

Towards an understanding of the role of p53 in adrenocortical carcinogenesis

Wasserman, J. D., Zambetti, G. P., & Malkin, D. (2012) · Molecular and Cellular Endocrinology

Adrenal and Paraganglionic TumorsCancer-related Molecular Pathways

Cited by 84

Copy number variations and cancer susceptibility

Shlien, A., & Malkin, D. (2010) · Current Opinion in Oncology

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 77

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome

Montellier, E., Lemonnier, N., Penkert, J., Freycon, C., Blanchet, S., Amadou, A., Chuffart, F., Fischer, N. W., Achatz, M.-I., Levine, A. J., et al. (2024) · iScience

Cancer-related Molecular PathwaysGenomics and Rare Diseases

Cited by 29

Fine resolution clustering of TP53 variants into functional classes predicts cancer risks and spectra among germline variant carriers

Montellier, E., Lemonnier, N., Penkert, J., Freycon, C., Blanchet, S., Amadou, A., Chuffart, F., Fischer, N., Achatz, M. I., Levine, A., et al. (2023) · iScience

Cancer-related Molecular PathwaysGenomics and Rare Diseases

Cited by 29

Nearly Half of TP53 Germline Variants Predicted To Be Pathogenic in Patients With Osteosarcoma Are De Novo: A Report From the Children’s Oncology Group

Diessner, B. J., Pankratz, N., Hooten, A. J., Mirabello, L., Sarver, A. L., Mills, L. J., Malkin, D., Kelley, A. C., & Spector, L. G. (2020) · JCO Precision Oncology

Sarcoma Diagnosis and TreatmentGenomics and Rare Diseases

Cited by 16