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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

PloS one, 2013-11, Vol.8 (11), p.e78496-e78496

2013

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IGFBPs mediate IGF‐1's functions in retinal lamination and photoreceptor development during pluripotent stem cell differentiation to retinal organoids

Stem cells (Dayton, Ohio), 2021-04, Vol.39 (4), p.458-466

2021

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Ramadan 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 one, 2017-04, Vol.12 (4), p.e0174342-e0174342

2017

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Health impact of fasting in Saudi Arabia during Ramadan: association with disturbed circadian rhythm and metabolic and sleeping patterns

PloS one, 2014-05, Vol.9 (5), p.e96500

2014

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A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene

Journal of cellular biochemistry, 2016-09, Vol.117 (9), p.2023-2035

2016

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Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells

Stem cells (Dayton, Ohio), 2015-09, Vol.33 (9), p.2643-2651

2015

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Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia

Journal of genetic counseling, 2022-08, Vol.31 (4), p.922-936

2022

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Complement modulation reverses pathology in Y402H‐retinal pigment epithelium cell model of age‐related macular degeneration by restoring lysosomal function

Stem cells translational medicine, 2020-12, Vol.9 (12), p.1585-1603

2020

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Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis

Journal of cellular biochemistry, 2017-08, Vol.118 (8), p.2193-2207

2017

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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells

Clinical and translational medicine, 2022-03, Vol.12 (3), p.e759-n/a

2022

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Cover Image, Volume 117, Number 9, September 2016

Journal of cellular biochemistry, 2016-09, Vol.117 (9), p.i-i

2016

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Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

Saudi medical journal, 2015-09, Vol.36 (9), p.1076-1083

2015

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Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina

Journal of extracellular vesicles, 2022-12, Vol.11 (12), p.e12295-n/a

2022

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Dynamics and Stabilization of the Human Gut Microbiome during the First Year of Life

Cell host & microbe, 2015-05, Vol.17 (5), p.690-703

2015

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Whole 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 one, 2017-05, Vol.12 (5), p.e0176664-e0176664

2017

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Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals

Cancer cell international, 2019-07, Vol.19 (1), p.191-10, Article 191

2019

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Myocardial infarction biomarker discovery with integrated gene expression, pathways and biological networks analysis

Genomics (San Diego, Calif.), 2020-11, Vol.112 (6), p.5072-5085

2020

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Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

Frontiers in medicine, 2021-06, Vol.8, p.694668-694668

2021

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A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

Nature (London), 2014-08, Vol.512 (7513), p.190-193

2014

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Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia

Congenital anomalies, 2018-01, Vol.58 (1), p.39-40

2018

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Discordance Between Germline and Blood Mosaicism in Calmodulinopathy

Circulation. Genomic and precision medicine, 2022-08, Vol.15 (4), p.101161CIRCGEN121003695-e003695

2022

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Structural and functional characterization of pathogenic non- synonymous genetic mutations of human insulin-degrading enzyme by in silico methods

CNS & neurological disorders drug targets, 2014-04, Vol.13 (3), p.517

2014

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Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis

Journal of dermatology, 2015-07, Vol.42 (7), p.706-709

2015

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Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Saudi journal of biological sciences, 2020-01, Vol.27 (1), p.271-278

2020

Volltextzugriff (PDF)

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in pediatrics, 2021-04, Vol.9, p.652011-652011

2021

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

IGFBPs mediate IGF‐1's functions in retinal lamination and photoreceptor development during pluripotent stem cell differentiation to retinal organoids

Ramadan fasting in Saudi Arabia is associated with altered expression of CLOCK, DUSP and IL-1alpha genes, as well as changes in cardiometabolic risk factors

Health impact of fasting in Saudi Arabia during Ramadan: association with disturbed circadian rhythm and metabolic and sleeping patterns

A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene

Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells

Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia

Complement modulation reverses pathology in Y402H‐retinal pigment epithelium cell model of age‐related macular degeneration by restoring lysosomal function

Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells

Cover Image, Volume 117, Number 9, September 2016

Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina

Dynamics and Stabilization of the Human Gut Microbiome during the First Year of Life

Whole 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

Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals

Myocardial infarction biomarker discovery with integrated gene expression, pathways and biological networks analysis

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia

Discordance Between Germline and Blood Mosaicism in Calmodulinopathy

Structural and functional characterization of pathogenic non- synonymous genetic mutations of human insulin-degrading enzyme by in silico methods

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

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