Bader Alhaddad

Munich, BY 81675, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 68 publications

Expanding the ABCA2-associated neurodevelopmental phenotype.

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

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

Published: November 24, 2025

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Journal: HGG advances

Published: November 19, 2025

Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.

Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.

Journal: Frontiers in pediatrics

Published: October 16, 2025

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Journal: Genome medicine

Published: April 24, 2025

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Journal: Clinical genetics

Published: March 21, 2025

Showing 1-12 of 68

Last Updated: 09/26/2026