Ambrin Fatima

Jail Road
Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 47 publications

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.

Journal: Frontiers in pediatrics

Published: January 14, 2026

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature.

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature.

Journal: Molecular genetics & genomic medicine

Published: August 15, 2025

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Journal: Human genomics

Published: August 06, 2025

DDIAS shields single-stranded DNA in mitosis and promotes vertebrate brain development.

DDIAS shields single-stranded DNA in mitosis and promotes vertebrate brain development.

Journal: Cell

Published: June 30, 2025

Response to Haliloğlu et al.

Response to Haliloğlu et al.

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

Published: May 22, 2025

Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.

Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.

Journal: Molecular genetics and genomics : MGG

Published: November 27, 2024

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Journal: Human genetics

Published: August 31, 2024

Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human.

Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human.

Journal: eNeuro

Published: August 15, 2024

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: May 16, 2024

Generation of a ZEB2 deficient human iPSC line (KICRi002A-4).

Generation of a ZEB2 deficient human iPSC line (KICRi002A-4).

Journal: Stem cell research

Published: December 06, 2023

Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

Journal: Molecular genetics and genomics : MGG

Published: November 19, 2023

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Journal: BMC genomics

Published: October 23, 2023

Showing 1-12 of 47

Last Updated: 09/26/2026