List of works - Mahmoud Y Issa

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

scientific article published on 29 October 2020

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

scientific article published on 16 June 2017

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract

scientific article

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

scientific article published on 08 September 2020

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

scientific article published on 9 February 2017

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

scientific article published on 27 July 2020

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

scientific article published on 19 September 2020

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

scientific article published on 06 November 2018

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

scientific article published on 16 July 2016

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I ⬇️

scientific article published on May 11, 2012

Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I

scientific article published on 21 June 2013

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

scientific article published on 21 December 2018

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

scientific article published on 16 August 2017

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

scientific article published on 28 November 2017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

scientific article published on 4 October 2018

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

scientific article published on 13 May 2020

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

scientific article published on 30 May 2016

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect

article

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

scientific article published on 15 April 2020

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

scientific article published on 8 April 2017

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

scientific article published on 30 April 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

scientific article published on 15 March 2016

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

scientific article published on 05 July 2019

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant

scientific article published on 10 September 2020

Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome

scientific article published on 11 July 2012

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy