Jung Kim

发表

Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia.

S. Savage, K. Jones, B. Zhu, 2020, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, Jia Liu, 2018, Genome Medicine.

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

P. Hainaut, L. Mirabello, S. Savage, 2019, Human Mutation.

In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees

M. Dyer, M. Greene, A. Brooks-Wilson, 2020, Leukemia.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

U. Kontny, M. Zenker, C. Kratz, 2021, Familial Cancer.

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes

A. Goldstein, D. Carey, Jung Kim, 2022, Cancers.

OpenPBTA: The Open Pediatric Brain Tumor Atlas

Allison P. Heath, Meen Chul Kim, Stephanie J. Spielman, 2023, Cell genomics.

ALT in Pediatric Brain Tumors Can Occur without ATRX Mutation and is Enriched in Patients with Pathogenic Germline MMR Variants

Marilyn M. Li, Rebecca S. Kaufman, Jo Lynne Rokita, 2022, bioRxiv.

Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.

S. Chanock, M. Tucker, N. Freedman, 2022, JCO precision oncology.

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants

Marilyn M. Li, Matthew R. Lueder, Rebecca S. Kaufman, 2022, bioRxiv.

Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis

P. Hainaut, L. Mirabello, S. Savage, 2018, Human mutation.

The prevalence of DICER1 pathogenic variation in population databases

Jung Kim, D. Stewart, D. A. Hill, 2017, International journal of cancer.

Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility

C. Rotimi, A. Adeyemo, D. Shriner, 2020, Leukemia.

Genomic and evolutionary classification of lung cancer in never smokers

Samuel H. Wilson, Y. Bossé, Jianxin Shi, 2021, Nature Genetics.

Germline pathogenic variants in 786 neuroblastoma patients

Trevor J Pugh, Rebecca S. Kaufman, H. Hakonarson, 2023, medRxiv.

The prevalence of germline DICER1 pathogenic variation in cancer populations

Jung Kim, D. Stewart, D. A. Hill, 2019, Molecular genetics & genomic medicine.

Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.

D. Rader, M. Greene, K. Nathanson, 2020, Cancer genetics.

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

R. Nussinov, N. Hayward, M. Tucker, 2021, Familial Cancer.

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

R. Nussinov, S. Puig, K. Brown, 2021, medRxiv.

Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study

D. Silverman, N. Rothman, M. McCullough, 2021, JCO precision oncology.

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

A. Goldenberg, J. Khan, Jun S. Wei, 2021, JCO precision oncology.

A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype

P. Rosenberg, M. Murray, D. Carey, 2021, JAMA network open.

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.

Stephen W. Hartley, S. Chanock, D. Karyadi, 2021, JNCI cancer spectrum.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

W. Foulkes, D. Ritter, M. Anderson, 2023, Human mutation.

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

D. Kastner, D. Bodian, A. Schwartz, 2023, JAMA.

Inflated expectations: Rare-variant association analysis using public controls

Stephen W. Hartley, S. Chanock, D. Karyadi, 2023, PloS one.

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.

N. Freedman, S. Savage, B. Zhu, 2022, Blood.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, M. Greene, 2018, Genome Medicine.

Rare germline deleterious variants increase susceptibility for lung cancer.

Jianxin Shi, K. Brown, Jia Liu, 2022, Human molecular genetics.

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

H. Hakonarson, D. Rader, M. Greene, 2023, European urology.

Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.

M. Tucker, A. Goldstein, M. Yohe, 2023, JAMA dermatology.

Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies

Jianxin Shi, N. Rothman, M. García-Closas, 2023, BMC Medical Research Methodology.

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification

Rebecca S. Kaufman, S. Diskin, A. Resnick, 2023, bioRxiv.

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor

Jung Kim, Kenneth S. Chen, K. Schultz, 2023, JCO precision oncology.