Associated Papers
Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.
Mayfield CK et al.
The Journal of Arthroplasty, 2026
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.
Črepinšek K et al.
Cancers, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Two Distinct Deleterious Causative Variants in a Family with Multiple Cancer-Affected Patients.
Khorram E et al.
Advanced Biomedical Research, 2023
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.
Dansonka-Mieszkowska A et al.
Plos One, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex development.
Tenenbaum-Rakover Y et al.
Endocrine Connections, 2021
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
Sokolenko AP et al.
Cancer Letters, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER et al.
Plos Genetics, 2012
Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.
Meyer S et al.
British Journal of Haematology, 2006
Disruption of the Fanconi anemia/BRCA pathway in sporadic cancer.
Lyakhovich A et al.
Cancer Letters, 2006
Germ line Fanconi anemia complementation group C mutations and pancreatic cancer.
Couch FJ et al.
Cancer Research, 2005
The genetics of FANCC and FANCG in familial pancreatic cancer.
Rogers CD et al.
Cancer Biology & Therapy, 2004
Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.
Barber LM et al.
British Journal of Haematology, 2003
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Gibson RA et al.
Human Mutation, 1996
Fanconi anaemia research: current status and prospects.
Joenje H et al.
European Journal of Cancer (oxford, England : 1990), 1995
Mutation analysis of the Fanconi anemia gene FACC.
Verlander PC et al.
American Journal of Human Genetics, 1994