List of works - Ghada M Abdel-Salam

A case-control etiologic study of microcephaly.

scientific article published on September 2000

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

scientific article published on 18 September 2012

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

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

scientific article

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases

article published in 2004

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

scientific article published on July 2004

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

scientific article published on 23 March 2017

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

Association of epilepsy with different groups of microcephaly

scientific article published on November 2000

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

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia

scientific article published on 26 March 2019

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

scientific article published in January 2008

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

scientific article published on 01 February 2010

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

scientific article published on 5 June 2016

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

scientific article published on 31 May 2015

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

scientific article published on 12 February 2016

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

scientific article published on 10 September 2015

Expanding the mutation and clinical spectrum of Roberts syndrome.

scientific article published on 29 December 2015

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

scientific article published on May 11, 2012

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

scientific article published on 5 January 2016

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

scientific article published on 10 March 2015

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

scientific article published on 21 October 2019

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

scientific article published on 21 June 2013

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

scientific article

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 Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos.

scientific article published on 16 February 2018

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia

scientific article published on 25 January 2017

Genomic analysis of primordial dwarfism reveals novel disease genes

scientific article published on 03 January 2014

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone

scientific article

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

scientific article published in May 2018

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

scientific article published in May 2007

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs

scientific article published on 29 March 2006

KBG syndrome in two patients from Egypt

scientific article published on 28 March 2020

Lenz-Majewski syndrome in a patient from Egypt

scientific article published on 12 August 2019

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

scientific article published on 30 September 2015

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

scientific article

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies

scientific article published on 03 August 2018

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

scientific article published on 7 July 2016

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

scientific article published on 08 April 2020

Microcephaly with chorioretinal dysplasia: Characteristic facial features

scientific article published on 01 December 2000

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome

scientific article published in November 2008

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

scientific article published on 2 June 2016

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

scientific article published on 01 January 2011

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

scientific article

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

scientific article

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

scientific article

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

scientific article published on 23 January 2015

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

article

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

scientific article published on 30 April 2016

Phenotypic and molecular insights into PQBP1 -related intellectual disability

scientific article published on 23 September 2018

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly

scientific article published on 13 January 2019

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

scientific article published on 11 July 2012

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

scientific article

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

scientific article published on February 2008

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

scientific article published on 23 January 2014

Warsaw breakage syndrome: Further clinical and genetic delineation

scientific article published on 14 September 2018

List of works by Ghada M Abdel-Salam

A case-control etiologic study of microcephaly.

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

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

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Association of epilepsy with different groups of microcephaly

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

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Exome sequencing can improve diagnosis and alter patient management

Expanding CEP290 mutational spectrum in ciliopathies

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Expanding the mutation and clinical spectrum of Roberts syndrome.

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

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

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

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

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

Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos.

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia

Genomic analysis of primordial dwarfism reveals novel disease genes

Genomic and phenotypic delineation of congenital microcephaly

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs

KBG syndrome in two patients from Egypt

Lenz-Majewski syndrome in a patient from Egypt

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Microcephaly with chorioretinal dysplasia: Characteristic facial features

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

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

Phenotypic and molecular insights into PQBP1 -related intellectual disability

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly

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

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

Warsaw breakage syndrome: Further clinical and genetic delineation