Eman Alobeid

Riyadh, 11211, Saudi Arabia

Last Updated: 09/26/2026

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Found 20 publications

Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family.

Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family.

Journal: International journal of molecular sciences

Published: May 31, 2026

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.

Journal: International journal of molecular sciences

Published: April 29, 2026

C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

Journal: bioRxiv : the preprint server for biology

Published: February 20, 2025

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Journal: Orphanet journal of rare diseases

Published: June 26, 2023

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Journal: American journal of human genetics

Published: May 15, 2023

The morbid genome of ciliopathies: an update.

The morbid genome of ciliopathies: an update.

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

Published: April 08, 2022

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Journal: Clinical genetics

Published: December 02, 2019

The morbid genome of ciliopathies: an update.

The morbid genome of ciliopathies: an update.

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

Published: November 01, 2019

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Journal: Genome biology

Published: October 10, 2019

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

Journal: Hepatology (Baltimore, Md.)

Published: April 29, 2019

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.

Journal: Human mutation

Published: March 04, 2019

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Journal: Human genetics

Published: December 31, 2018

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Last Updated: 09/26/2026