Michael P. Spiller

Sheffield, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 07, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

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

Published: January 13, 2025

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Journal: American journal of human genetics

Published: November 19, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

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

Published: July 05, 2024

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: January 26, 2023

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.

Journal: Neuromuscular disorders : NMD

Published: April 27, 2022

Expanding the phenotype of TAB2 variants and literature review.

Expanding the phenotype of TAB2 variants and literature review.

Journal: American journal of medical genetics. Part A

Published: January 30, 2022

Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.

Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.

Journal: American journal of medical genetics. Part A

Published: October 01, 2021

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

Journal: American journal of medical genetics. Part A

Published: June 06, 2021

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.

Journal: European journal of medical genetics

Published: March 30, 2021

Mitochondrial Tim9 protects Tim10 from degradation by the protease Yme1.

Mitochondrial Tim9 protects Tim10 from degradation by the protease Yme1.

Journal: Bioscience reports

Published: February 09, 2015

The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction.

The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction.

Journal: The Biochemical journal

Published: October 02, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026