Asma I. Tahir

Geriatrics

300 Mount Auburn St Ste 517
Cambridge, MA 02138

Last Updated: 09/26/2026

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Found 20 publications

A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.

A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.

Journal: Zygote (Cambridge, England)

Published: May 11, 2026

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

Journal: Human genomics

Published: October 12, 2023

Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women.

Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women.

Journal: Pakistan journal of pharmaceutical sciences

Published: April 21, 2021

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: October 05, 2019

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.

Journal: European journal of medical genetics

Published: May 03, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: December 19, 2018

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Journal: Genes

Published: April 02, 2018

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Journal: Scientific reports

Published: February 16, 2017

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Journal: Molecular genetics and metabolism reports

Published: January 25, 2017

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Journal: BMC research notes

Published: September 15, 2015

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Journal: Journal of medical genetics

Published: August 21, 2015

Parkinson's Disease in Saudi Patients: A Genetic Study.

Parkinson's Disease in Saudi Patients: A Genetic Study.

Journal: PloS one

Published: June 22, 2015

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Last Updated: 09/26/2026