S. Ben-Salem

发表

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

D. Valle, Sarah M Robbins, L. Al-Gazali, 2017, Journal of Medical Genetics.

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

J. Partanen, L. Al-Gazali, N. Akawi, 2016, American journal of medical genetics. Part A.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

D. Valle, N. Sobreira, L. Al-Gazali, 2016, American journal of medical genetics. Part A.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Human Genome Variation.

Entwined African and Asian genetic roots of medieval peoples of the Swahili coast

D. Reich, N. Patterson, S. Mallick, 2022, bioRxiv.

Novel insights in cell cycle dysregulation during prostate cancer progression.

H. Heemers, S. Ben-Salem, Varadha Balaji Venkadakrishnan, 2021, Endocrine-related cancer.

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

L. Al-Gazali, B. Ali, F. Ayadi, 2013, Gene.

Genomic alterations impact cell cycle-related genes during prostate cancer progression.

H. Heemers, S. Ben-Salem, Varadha Balaji Venkadakrishnan, 2021, Endocrine-related cancer.

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

L. Al-Gazali, B. Ali, A. John, 2018, BMC Medical Genetics.

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

L. Al-Gazali, B. Ali, A. John, 2015, Journal of Molecular Neuroscience.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

J. Gleeson, L. Al-Gazali, B. Ali, 2015, Metabolic Brain Disease.

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

L. Al-Gazali, N. Akawi, B. Ali, 2016, Orphanet Journal of Rare Diseases.

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

L. Al-Gazali, B. Ali, Aisha M Al-Shamsi, 2014, Child's Nervous System.

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

L. Al-Gazali, B. Ali, A. John, 2015, Journal of Molecular Neuroscience.

A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

Adam D. DePriest, Q. Hu, Jianmin Wang, 2017, eLife.

Correction: A comprehensive analysis of coregulator recruitment, androgen receptor function and gene expression in prostate cancer

Adam D. DePriest, Q. Hu, Jianmin Wang, 2017, eLife.

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A

H. Rehm, L. Al-Gazali, H. Ayadi, 2013, Molecular Biology Reports.

Protein Kinase N1 control of androgen-responsive serum response factor action provides rationale for novel prostate cancer treatment strategy

Adam D. DePriest, R. Shah, Q. Hu, 2019, Oncogene.

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

L. Al-Gazali, B. Ali, J. Hertecant, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Diversity in Androgen Receptor Action Among Treatment-naïve Prostate Cancers Is Reflected in Treatment Response Predictions and Molecular Subtypes

A. Sboner, Q. Hu, Song Liu, 2020, European urology open science.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Michael E. Coulter, C. Walsh, C. Schubert, 2014, Human molecular genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

L. Al-Gazali, B. Ali, S. Ben-Salem, 2012, Molecular Syndromology.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Human Genome Variation.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Metabolic Brain Disease.

A novel splice site deletion in the OFD1 gene is responsible for oral–facial–digital syndrome type 1 in an Emirati child

L. Al-Gazali, B. Ali, S. Ben-Salem, 2015 .

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

L. Al-Gazali, B. Ali, S. Ben-Salem, 2014, Investigative ophthalmology & visual science.

AR-dependent phosphorylation and phospho-proteome targets in prostate cancer.

H. Heemers, S. Ben-Salem, Varadha Balaji Venkadakrishnan, 2020, Endocrine-related cancer.

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

L. Al-Gazali, B. Ali, Aisha M Al-Shamsi, 2015, Journal of Molecular Neuroscience.

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

J. Hertecant, Aisha M Al-Shamsi, S. Ben-Salem, 2015, European Journal of Pediatrics.

A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations

L. Al-Gazali, B. Ali, A. John, 2018, Clinical genetics.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

J. Gleeson, L. Al-Gazali, B. Ali, 2015, Human Genome Variation.

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

L. Al-Gazali, B. Ali, S. Ben-Salem, 2014, Investigative ophthalmology & visual science.

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A

H. Rehm, L. Al-Gazali, H. Ayadi, 2013, Molecular Biology Reports.