Chadi Al Alam

El Koura, Lebanon

Last Updated: 09/26/2026

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Found 9 publications

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Journal: American journal of human genetics

Published: July 19, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Journal: Brain : a journal of neurology

Published: May 18, 2023

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Journal: Human genetics

Published: February 18, 2023

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

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

Published: February 17, 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Journal: Clinical genetics

Published: April 14, 2022

Clinical Features and Outcome of Sickle Cell Disease in a Tertiary Center in Northern Lebanon: A Retrospective Cohort Study in a Local, Hospital-Associated Registry.

Clinical Features and Outcome of Sickle Cell Disease in a Tertiary Center in Northern Lebanon: A Retrospective Cohort Study in a Local, Hospital-Associated Registry.

Journal: Hemoglobin

Published: May 13, 2021

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Journal: Frontiers in genetics

Published: July 17, 2018

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Last Updated: 09/26/2026