Rami Jamra-Abou

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 118 publications

Genetic Prevalence of Malignant Hyperthermia Susceptibility-Associated Variants in a Nonmalignant Hyperthermia Referral Cohort.

Genetic Prevalence of Malignant Hyperthermia Susceptibility-Associated Variants in a Nonmalignant Hyperthermia Referral Cohort.

Journal: Anesthesiology
Published: August 26, 2026

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

Journal: JCI insight
Published: August 11, 2026

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Journal: Neuropediatrics
Published: November 19, 2025

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

Journal: American journal of human genetics
Published: June 27, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics
Published: June 24, 2025

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Journal: Biochemistry and biophysics reports
Published: June 18, 2025

Overview and expansion of CEP85L-associated lissencephaly.

Overview and expansion of CEP85L-associated lissencephaly.

Journal: European journal of medical genetics
Published: June 02, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics
Published: April 01, 2025

Drosophila WDFY3/Bchs overexpression impairs neural function.

Drosophila WDFY3/Bchs overexpression impairs neural function.

Journal: Journal of neurogenetics
Published: February 25, 2025

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Journal: The Journal of clinical investigation
Published: January 28, 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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics
Published: October 02, 2024
Showing 1-12 of 118

Last Updated: 09/26/2026