Sebnem O. Sag

Bursa, Turkey

Last Updated: 09/26/2026

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Found 27 publications

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

Journal: Functional & integrative genomics

Published: July 02, 2024

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.

Journal: Life science alliance

Published: March 11, 2024

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 21, 2023

A new line method; A direct test in spinal muscular atrophy screening for DBS.

A new line method; A direct test in spinal muscular atrophy screening for DBS.

Journal: Molecular genetics & genomic medicine

Published: May 08, 2023

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Journal: Journal of medical virology

Published: December 09, 2022

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.

Journal: Applied immunohistochemistry & molecular morphology : AIMM

Published: November 08, 2022

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Journal: Journal of medical virology

Published: May 01, 2022

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Journal: Breast (Edinburgh, Scotland)

Published: January 19, 2022

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia.

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia.

Journal: Global medical genetics

Published: August 25, 2021

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Journal: Functional & integrative genomics

Published: July 09, 2021

The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.

The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.

Journal: Turkish neurosurgery

Published: June 25, 2021

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.

Journal: Global medical genetics

Published: March 11, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026