List of works - Hadia Hijazi

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

scientific article published on 6 March 2015

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

scientific article

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

scientific article

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

scientific article

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

scientific article published on 14 June 2013

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

scientific article published on 09 December 2019

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome

scientific article published on 22 May 2014

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

scientific article

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Molecular characterization of Joubert syndrome in Saudi Arabia

scientific article published on 11 July 2012

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

scientific article

Mutations in ALDH1A3 cause microphthalmia.

scientific article published on 27 May 2013

Mutations in LRPAP1 are associated with severe myopia in humans

scientific article

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

scientific article published on 07 January 2014

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

scientific article published on 20 December 2013

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

scientific article published on 03 August 2018

List of works by Hadia Hijazi

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Molecular characterization of Joubert syndrome in Saudi Arabia

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Mutations in ALDH1A3 cause microphthalmia.

Mutations in LRPAP1 are associated with severe myopia in humans

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus