Fakhro, Khalid Adnan Mohamed Abdulrahman

selected publications

Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model. Scientific reports. 2024 Academic Article GET IT
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank. Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Academic Article GET IT
The genetic cause of neurodevelopmental disorders in 30 consanguineous families. Frontiers in medicine. 2024 Academic Article GET IT
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study. NPJ genomic medicine. 2024 Academic Article GET IT
Conserved genes regulating human sex differentiation, gametogenesis and fertilization. Journal of translational medicine. 2024 Review GET IT
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project. BMC genomics. 2024 Academic Article GET IT
Deciphering the complex interplay of obesity, epithelial barrier dysfunction, and tight junction remodeling: Unraveling potential therapeutic avenues. Obesity reviews : an official journal of the International Association for the Study of Obesity. 2024 Review GET IT
Genetic background of primary and familial HLH in Qatar: registry data and population study. Frontiers in pediatrics. 2024 Academic Article GET IT
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review. BMC nephrology. 2024 Review GET IT
Burden of Mendelian disorders in a large Middle Eastern biobank. Genome medicine. 2024 Academic Article GET IT
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications. 2024 Academic Article GET IT
Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder. 2024 GET IT
Validation of plasma protein glycation and oxidation biomarkers for the diagnosis of autism. Molecular psychiatry. 2023 Academic Article GET IT
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study. Genome medicine. 2023 Academic Article GET IT
A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility. The journal of gene medicine. 2023 Academic Article GET IT
Equity, diversity, and inclusion at the Global Alliance for Genomics and Health. Cell genomics. 2023 Review GET IT
An integrated tumor, immune and microbiome atlas of colon cancer. Nature medicine. 2023 Academic Article GET IT
Times cited: 57
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes. 2023 GET IT
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family. Frontiers in endocrinology. 2023 Academic Article GET IT
The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature. Journal of translational medicine. 2023 Academic Article GET IT
Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease. Computational and structural biotechnology journal. 2023 Academic Article GET IT
The role of dietary antioxidants in type 2 diabetes and neurodegenerative disorders: An assessment of the benefit profile. Heliyon. 2022 Review GET IT
Times cited: 27
Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022 Academic Article GET IT
Times cited: 23
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank. Journal of translational medicine. 2022 Academic Article GET IT
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. European journal of medical genetics. 2022 Review GET IT
Times cited: 1
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. Human molecular genetics. 2022 Academic Article GET IT
Times cited: 4
Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. International journal of molecular sciences. 2022 Academic Article GET IT
Times cited: 3
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. 2022 GET IT
Patterns and distribution of de novo mutations in multiplex Middle Eastern families. Journal of human genetics. 2022 Academic Article GET IT
The immune landscape of solid pediatric tumors. Journal of experimental & clinical cancer research : CR. 2022 Academic Article GET IT
Times cited: 15
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a journal of neurology. 2022 Academic Article GET IT
Times cited: 17
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. Cold Spring Harbor molecular case studies. 2022 Academic Article GET IT
Genetics of glutamate and its receptors in autism spectrum disorder. Molecular psychiatry. 2022 Review GET IT
Times cited: 63
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. 2022 GET IT
Times cited: 2
Qatar Genome: Insights on Genomics from the Middle East. Human mutation. 2022 Academic Article GET IT
Metabolic and Metabo-Clinical Signatures of Type 2 Diabetes, Obesity, Retinopathy, and Dyslipidemia. Diabetes. 2022 Academic Article GET IT
Times cited: 41
The QChip1 knowledgebase and microarray for precision medicine in Qatar. NPJ genomic medicine. 2022 Academic Article GET IT
Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal of personalized medicine. 2022 Academic Article GET IT
Times cited: 2
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies. Diabetes, obesity & metabolism. 2022 Review GET IT
Times cited: 10
Maturity-onset diabetes of the young (MODY) due to PDX1 mutation in a sib-pair diabetes family from Qatar. 2021 GET IT
Times cited: 4
Genomic medicine in the Middle East. Genome medicine. 2021 Academic Article GET IT
Times cited: 12
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. NPJ genomic medicine. 2021 Academic Article GET IT
Times cited: 5
GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell genomics. 2021 Academic Article GET IT
Times cited: 117
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. Nature communications. 2021 Academic Article GET IT
Times cited: 24
Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder. Translational psychiatry. 2021 Review GET IT
Times cited: 36
Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era. Journal of translational medicine. 2021 Review GET IT
Times cited: 56
Identification of mutation resistance coldspots for targeting the SARS-CoV2 main protease. IUBMB life. 2021 Academic Article GET IT
Times cited: 25
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain : a journal of neurology. 2021 Academic Article GET IT
Times cited: 24
Role of NAD⁺ in regulating cellular and metabolic signaling pathways. Molecular metabolism. 2021 Review GET IT
Times cited: 149
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank. NPJ genomic medicine. 2021 Academic Article GET IT
Times cited: 10
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. NPJ genomic medicine. 2021 Academic Article GET IT
Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes. Cells. 2020 Review GET IT
Times cited: 7
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. 2020 GET IT
Times cited: 7
Willingness to participate in genome testing: a survey of public attitudes from Qatar. Journal of human genetics. 2020 Academic Article GET IT
Times cited: 16
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development. Cells. 2020 Academic Article GET IT
Times cited: 19
Genetics of structural and functional brain changes in autism spectrum disorder. Translational psychiatry. 2020 Review GET IT
Times cited: 75
Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder. International journal of molecular sciences. 2020 Information Resource GET IT
Times cited: 27
Brain microstructural changes support cognitive deficits in HIV uninfected children born to HIV infected mothers. Brain, behavior, & immunity - health. 2020 Academic Article GET IT
Times cited: 12
Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model. Journal of cellular physiology. 2020 Academic Article GET IT
Times cited: 2
Genomics of Autism. Advances in neurobiology. 2020 Review GET IT
Times cited: 6
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. Human molecular genetics. 2019 Academic Article GET IT
Times cited: 2
Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction. The Biochemical journal. 2018 Academic Article GET IT
Times cited: 7
Whole-methylome analysis of circulating monocytes in acute diabetic Charcot foot reveals differentially methylated genes involved in the formation of osteoclasts. Epigenomics. 2018 Academic Article GET IT
Times cited: 11
Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population. PloS one. 2018 Academic Article GET IT
Times cited: 6
Differentially expressed circulating microRNAs in the development of acute diabetic Charcot foot. Epigenomics. 2018 Academic Article GET IT
Times cited: 13
Point-of-care whole-exome sequencing of idiopathic male infertility. Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Academic Article GET IT
Times cited: 35
A systematic review on the genetics of male infertility in the era of next-generation sequencing. Arab journal of urology. 2018 Academic Article GET IT
Times cited: 34
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population. Nature communications. 2018 Academic Article GET IT
Times cited: 50
Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals. Journal of the Endocrine Society. 2017 Academic Article GET IT
Times cited: 11
Circulating microparticles in acute diabetic Charcot foot exhibit a high content of inflammatory cytokines, and support monocyte-to-osteoclast cell induction. Scientific reports. 2017 Academic Article GET IT
Times cited: 31
Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population. 2016 GET IT
Times cited: 1
Type 2 Diabetes Risk Allele Loci in the Qatari Population. PloS one. 2016 Academic Article GET IT
Times cited: 23
The Qatar genome: a population-specific tool for precision medicine in the Middle East. Human genome variation. 2016 Academic Article GET IT
Times cited: 86
Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations. Genome research. 2016 Academic Article GET IT
Times cited: 71
Epigenetics and Cardiovascular Disease in Diabetes. Current diabetes reports. 2015 Review GET IT
Times cited: 22
Copy number variations in the genome of the Qatari population. BMC genomics. 2015 Academic Article GET IT
Times cited: 9
Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population. Journal of translational medicine. 2015 Academic Article GET IT
Times cited: 14
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. Human mutation. 2013 Academic Article GET IT
Times cited: 43
De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Academic Article GET IT
Times cited: 737
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of America. 2011 Academic Article GET IT
Times cited: 207

VIVO Weill Cornell Medical College

Khalid Adnan Mohamed Abdulrahman Fakhro Associate Professor of Genetic Medicine

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selected publications

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