Tazeen Ashraf

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Journal: Prenatal diagnosis

Published: February 03, 2026

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder.

Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder.

Journal: Prenatal diagnosis

Published: March 07, 2025

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Journal: Genome medicine

Published: March 01, 2025

Genomic testing in neonates.

Genomic testing in neonates.

Journal: Archives of disease in childhood. Education and practice edition

Published: April 28, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

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

Published: March 21, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 26, 2024

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.

Journal: Prenatal diagnosis

Published: October 02, 2023

The evolving genetic etiology of conotruncal anomalies.

The evolving genetic etiology of conotruncal anomalies.

Journal: Prenatal diagnosis

Published: September 07, 2023

Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.

Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.

Journal: Prenatal diagnosis

Published: September 06, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

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

Published: September 02, 2023

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

Journal: American journal of medical genetics. Part A

Published: January 07, 2023

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Last Updated: 09/26/2026