List of works - Maha Zaki

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

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

scientific article

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

scientific article

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

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

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

scientific article

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

scientific article

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

scientific article

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

scientific article

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

scientific article

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

scientific article published on 18 August 2014

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

scientific article published on 15 March 2016

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

scientific article

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

scientific article published in May 2007

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

scientific article

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

scientific article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

scientific article published on 30 May 2015

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

scientific article

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

scientific article published in December 2014

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

scientific article

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

article by Maha S Zaki et al published December 2011 in American Journal of Medical Genetics

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

scientific article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

scientific article published on 10 July 2013

Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders

scientific article

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

scientific article published on 21 March 2017

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

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

scientific article published on 23 January 2015

Genomic and phenotypic delineation of congenital microcephaly

scientific article published on 14 September 2018

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

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

scientific article published on 07 September 2016

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

scientific article

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

scientific article published on 16 August 2017

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

scientific article published on 01 February 2010

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

scientific article

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

Assessment of pubertal development in Egyptian girls

scientific article published on June 2005

Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision.

scientific article published on 25 June 2009

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

scientific article published in November 2008

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

List of works by Maha Zaki

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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

Exome sequencing can improve diagnosis and alter patient management

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

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

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

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

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

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

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

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

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

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

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

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

Mutations in ANTXR1 cause GAPO syndrome.

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Mutations in CSPP1 lead to classical Joubert syndrome

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

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

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Expanding CEP290 mutational spectrum in ciliopathies

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

Genomic and phenotypic delineation of congenital microcephaly

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

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

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

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

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

Assessment of pubertal development in Egyptian girls

Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision.

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

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration