Hessa S. Alsaif

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 45 publications

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

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

Published: April 02, 2025

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK is mutated in individuals with a neurodevelopmental disorder.

Journal: EBioMedicine

Published: March 12, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.

TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.

Journal: Journal of cardiovascular development and disease

Published: October 11, 2023

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

Journal: Human genetics

Published: October 17, 2022

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: October 18, 2021

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation

Published: July 27, 2021

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Journal: The New England journal of medicine

Published: June 23, 2021

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Journal: Genome medicine

Published: May 21, 2021

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

Journal: Human genetics

Published: May 12, 2021

Showing 1-12 of 45

Last Updated: 09/26/2026