Rami A. Jamra

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 75 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.

Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.

Journal: Molecular and cellular pediatrics

Published: March 07, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Journal: Human genetics

Published: February 10, 2026

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Journal: Journal of neurology

Published: January 28, 2026

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

Journal: Clinical genetics

Published: January 07, 2026

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Journal: medRxiv : the preprint server for health sciences

Published: January 02, 2026

Clinical impact of genetic testing in inherited kidney diseases.

Clinical impact of genetic testing in inherited kidney diseases.

Journal: Clinical kidney journal

Published: November 19, 2025

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

Journal: Epilepsia

Published: November 05, 2025

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis.

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis.

Journal: Orphanet journal of rare diseases

Published: October 28, 2025

Showing 1-12 of 75

Last Updated: 09/26/2026