Shakeela Daud

Quetta, BA, Pakistan

Last Updated: 09/26/2026

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Found 12 publications

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Journal: Scientific reports

Published: June 26, 2025

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Journal: Molecular syndromology

Published: October 18, 2022

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Journal: Medicina (Kaunas, Lithuania)

Published: October 18, 2022

Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa, Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system.

Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa, Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system.

Journal: Legal medicine (Tokyo, Japan)

Published: April 15, 2022

Microbial pollution in inland recreational freshwaters of Quetta, Pakistan: an initial report.

Microbial pollution in inland recreational freshwaters of Quetta, Pakistan: an initial report.

Journal: Journal of water and health

Published: March 29, 2022

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: January 12, 2016

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Journal: Clinical and experimental dermatology

Published: September 28, 2014

Risk factors for lung cancer in the Pakistani population.

Risk factors for lung cancer in the Pakistani population.

Journal: Asian Pacific journal of cancer prevention : APJCP

Published: May 13, 2014

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

Journal: Clinical and experimental dermatology

Published: February 05, 2014

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Journal: Molecular biology reports

Published: February 19, 2013

Various aspects, patterns and risk factors in breast cancer patients of Balochistan.

Various aspects, patterns and risk factors in breast cancer patients of Balochistan.

Journal: Asian Pacific journal of cancer prevention : APJCP

Published: October 27, 2012

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Journal: European journal of medical genetics

Published: April 23, 2012

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Last Updated: 09/26/2026