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Author Details

Jumana Y Al-Aama
King AbdulAziz University
2003
107
29
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35194886Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.J Genet Couns2022
35543700Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.Circ Genom Precis Med2022
36544284Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina.J Extracell Vesicles2022
35237542Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease.Front Pediatr2022
35325233pRB-Depleted Pluripotent Stem Cell Retinal Organoids Recapitulate Cell State Transitions of Retinoblastoma Development and Suggest an Important Role for pRB in Retinal Cell Differentiation.Stem Cells Transl Med2022
35297555Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.Clin Transl Med2022
33442906IGFBPs mediate IGF-1's functions in retinal lamination and photoreceptor development during pluripotent stem cell differentiation to retinal organoids.Stem Cells2021
34589502Novel <i>MYO1D</i> Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects.Front Med (Lausanne)2021
34395430Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Front Cell Dev Biol2021
34249980Saudi Familial Hypercholesterolemia Patients With Rare <i>LDLR</i> Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.Front Med (Lausanne)2021
34042155TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls.Biosci Rep2021
33981653Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.Front Pediatr2021
32489286Whole exome sequencing of a Saudi family and systems biology analysis identifies <i>CPED1</i> as a putative causative gene to Celiac Disease.Saudi J Biol Sci2020
31889854Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.Saudi J Biol Sci2020
31889847Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.Saudi J Biol Sci2020
33121284Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family.Genet Test Mol Biomarkers2020
33004927Exploring celiac disease candidate pathways by global gene expression profiling and gene network cluster analysis.Sci Rep2020
32994732Bisoprolol responses (PK/PD) in hypertensive patients: A cytochrome P450 (CYP) 2D6 targeted polymorphism study.Saudi J Biol Sci2020
32766185A Novel Homozygous Frameshift Variant in <i>DYM</i> Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.Front Pediatr2020
32815311Complement modulation reverses pathology in Y402H-retinal pigment epithelium cell model of age-related macular degeneration by restoring lysosomal function.Stem Cells Transl Med2020
29752006Depression and telomere length in colorectal cancer patients in Saudi Arabia.Asian J Psychiatr2019
31908508Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes.Diabetes Metab Syndr Obes2019
29900604Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.Congenit Anom (Kyoto)2019
31294002A Novel Homozygous Frameshift Mutation in <i>CCN6</i> Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.Front Pediatr2019
31454269Genetic Mosaicism in Calmodulinopathy.Circ Genom Precis Med2019
31367189Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals.Cancer Cell Int2019
30738336Decellularised extracellular matrix-derived peptides from neural retina and retinal pigment epithelium enhance the expression of synaptic markers and light responsiveness of human pluripotent stem cell derived retinal organoids.Biomaterials2019
30968111A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.Brain2019
30847336Exome Analysis Identifies a Novel Compound Heterozygous Alteration in <i>TGM1</i> Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.Front Pediatr2019
30633559Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.Genet Test Mol Biomarkers2019
29777959Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.Acta Biomater2018
30206231Generating inner ear organoids containing putative cochlear hair cells from human pluripotent stem cells.Cell Death Dis2018
30315276Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.Nat Commun2018
28220546Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.Congenit Anom (Kyoto)2018
29391579A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.Sci Rep2018
28059456Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.J Cell Biochem2017
30800486Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.J Pediatr Genet2017
28384165Ramadan fasting in Saudi Arabia is associated with altered expression of CLOCK, DUSP and IL-1alpha genes, as well as changes in cardiometabolic risk factors.PLoS One2017
28191891Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.Nat Genet2017
28944242Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.Mol Genet Genomic Med2017
28505210Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients.PLoS One2017
28798887Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.J Pediatr Genet2017
26408641Metagenomic analysis of faecal microbiome as a tool towards targeted non-invasive biomarkers for colorectal cancer.Gut2017
26813965A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.J Cell Biochem2016
26402721Environmental Risk Factors in the Etiology of Nonsyndromic Orofacial Clefts in the Western Region of Saudi Arabia.Cleft Palate Craniofac J2016
27818083Shotgun Metagenomics of 250 Adult Twins Reveals Genetic and Environmental Impacts on the Gut Microbiome.Cell Syst2016
27810911The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages.J Cell Biol2016
27773428Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Am J Hum Genet2016
27579005Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.Saudi J Biol Sci2016
27019138A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.Arch Oral Biol2016
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Collaborators

Huanming Yang
Experimental Research Center, China Academy of Chinese Medical Sciences
Co-authored papers 8
Michael B Bober
Co-authored papers 4
Andrew P Jackson
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 4
Jian Wang
Institute of Medical Research, Northwestern Polytechnical University
Co-authored papers 4
Isabel K Temple
University of Southampton
Co-authored papers 3
Manimozhiyan Arumugam
Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen
Co-authored papers 3
Johan T den Dunnen
Leiden University Medical Center
Co-authored papers 2
Oluf Pedersen
Co-authored papers 2
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 2
Garry R Cutting
Johns Hopkins University School of Medicine
Co-authored papers 2
Rasim O Rosti
University of Virginia
Co-authored papers 2
Murat Gunel
Yale School of Medicine
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 2
Henning Urlaub
Max Planck Institute for Multidisciplinary Sciences
Co-authored papers 2
Lili Zhu
Gladstone Institutes
Co-authored papers 2
H??lya Kayserili
Istanbul University
Co-authored papers 2
Vera Gorbunova
University of Rochester
Co-authored papers 2
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 2
Arleen D Auerbach
The Rockefeller University
Co-authored papers 2
Fahd Al-Mulla
Dasman Diabetes Institute
Co-authored papers 2
Mauno Vihinen
Lund University
Co-authored papers 2
Bernard Keavney
Co-authored papers 2
Jennifer L Silhavy
University of California
Co-authored papers 2
Michael A Simpson
King's College London
Co-authored papers 2
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 2
Alfred L George
Northwestern University Feinberg School of Medicine
Co-authored papers 2
Joseph G Gleeson
University of California
Co-authored papers 2
Ahmet Okay Caglayan
Yale School of Medicine
Co-authored papers 2
Release 1.2