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Clinics in Laboratory Medicine
|
September 23, 2022
Germline Testing for the Evaluation of Hereditary Cancer Predisposition
Ozge Ceyhan-Birsoy
Trends in Cancer
|
January 19, 2020
Evolving Significance of Tumor-Normal Sequencing in Cancer Care
Diana Mandelker, Ozge Ceyhan-Birsoy
JCO Precision Oncology
|
May 29, 2024
Tumor-Only Sequencing: A Story Only Half Told
Ozge Ceyhan-Birsoy, Zsofia K Stadler
Journal of Clinical Neuromuscular Disease
|
February 22, 2017
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
May 26, 2026
Gynecologic Tumors and Precursor Lesions, Including p53-Aberrant Atypical Hyperplasia-like Endometrial Lesions, in Li-Fraumeni Syndrome
Yurika Nishikawa, Ozge Ceyhan-Birsoy, Pier Selenica, et al.
Human Mutation
|
April 27, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
Ozge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, et al.
Journal of Neuromuscular Diseases
|
March 31, 2015
Whole Exome Sequencing Reveals <i>DYSF</i>, <i>FKTN</i>, and <i>ISPD</i> Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement
Ozge Ceyhan-Birsoy, Beril Talim, Lindsay C Swanson, et al.
Breast Cancer Research and Treatment
|
September 27, 2018
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers
Ciyu Yang, Ozge Ceyhan-Birsoy, Diana Mandelker, et al.
Molecular Genetics & Genomic Medicine
|
May 29, 2020
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome
Kelsey E Breen, Maria I Carlo, Yelena Kemel, et al.
NPJ Precision Oncology
|
June 8, 2026
Independent somatic TP53 mutations in blood and tumor mimicking Li-Fraumeni syndrome in a 94-year-old man
Chuan Gao, Vikas Rai, Donna Wong, et al.
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Search research articles
Search
Showing results (1-10 of 50) with videos related to
Sort By:
Page
of 5
Clinics in Laboratory Medicine
|
September 23, 2022
Germline Testing for the Evaluation of Hereditary Cancer Predisposition
Ozge Ceyhan-Birsoy
Trends in Cancer
|
January 19, 2020
Evolving Significance of Tumor-Normal Sequencing in Cancer Care
Diana Mandelker, Ozge Ceyhan-Birsoy
JCO Precision Oncology
|
May 29, 2024
Tumor-Only Sequencing: A Story Only Half Told
Ozge Ceyhan-Birsoy, Zsofia K Stadler
Journal of Clinical Neuromuscular Disease
|
February 22, 2017
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
May 26, 2026
Gynecologic Tumors and Precursor Lesions, Including p53-Aberrant Atypical Hyperplasia-like Endometrial Lesions, in Li-Fraumeni Syndrome
Yurika Nishikawa, Ozge Ceyhan-Birsoy, Pier Selenica, et al.
Human Mutation
|
April 27, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
Ozge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, et al.
Journal of Neuromuscular Diseases
|
March 31, 2015
Whole Exome Sequencing Reveals <i>DYSF</i>, <i>FKTN</i>, and <i>ISPD</i> Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement
Ozge Ceyhan-Birsoy, Beril Talim, Lindsay C Swanson, et al.
Breast Cancer Research and Treatment
|
September 27, 2018
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers
Ciyu Yang, Ozge Ceyhan-Birsoy, Diana Mandelker, et al.
Molecular Genetics & Genomic Medicine
|
May 29, 2020
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome
Kelsey E Breen, Maria I Carlo, Yelena Kemel, et al.
NPJ Precision Oncology
|
June 8, 2026
Independent somatic TP53 mutations in blood and tumor mimicking Li-Fraumeni syndrome in a 94-year-old man
Chuan Gao, Vikas Rai, Donna Wong, et al.
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of 5