Skip to Main Content

Author Details

Khalid A Fakhro
Weill Cornell Medical College
2011
65
20
PMIDPaper TitleJournal TitlePublished Year
37640479A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.J Gene Med2024
36659918Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease.Comput Struct Biotechnol J2023
37868041Equity, diversity, and inclusion at the Global Alliance for Genomics and Health.Cell Genom2023
37107607A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6</i> in a Family with Popliteal Pterygium and Van der Woude Syndromes.Genes (Basel)2023
37202560An integrated tumor, immune and microbiome atlas of colon cancer.Nat Med2023
36960394A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.Front Endocrinol (Lausanne)2023
36869348The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.J Transl Med2023
34605855Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain2022
35348702Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.Hum Mol Genet2022
35732499A de novo start-loss in <i>EFTUD2</i> associated with mandibulofacial dysostosis with microcephaly: case report.Cold Spring Harb Mol Case Stud2022
35718832Patterns and distribution of de novo mutations in multiplex Middle Eastern families.J Hum Genet2022
35690832The immune landscape of solid pediatric tumors.J Exp Clin Cancer Res2022
36632095The role of dietary antioxidants in type 2 diabetes and neurodegenerative disorders: An assessment of the benefit profile.Heliyon2022
36368308Genomic architecture of autism from comprehensive whole-genome sequence annotation.Cell2022
36202298A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.Eur J Med Genet2022
36329474Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.J Transl Med2022
36012114Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model.Int J Mol Sci2022
35046417The QChip1 knowledgebase and microarray for precision medicine in Qatar.NPJ Genom Med2022
35182808A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.Eur J Med Genet2022
34882941Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.Diabetes Obes Metab2022
35112413Qatar genome: Insights on genomics from the Middle East.Hum Mutat2022
35055433Clinical, Genetic and Functional Characterization of a Novel <i>AVPR2</i> Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.J Pers Med2022
35296811Genetics of glutamate and its receptors in autism spectrum disorder.Mol Psychiatry2022
34815247Novel <i>MYO5B</i> mutation in microvillous inclusion disease of Syrian ancestry.Cold Spring Harb Mol Case Stud2022
33420067A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.NPJ Genom Med2021
33794915Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.J Transl Med2021
33563995Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.NPJ Genom Med2021
33609766Role of NAD<sup>+</sup> in regulating cellular and metabolic signaling pathways.Mol Metab2021
33749986Identification of mutation resistance coldspots for targeting the SARS-CoV2 main protease.IUBMB Life2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34938542Maturity-onset diabetes of the young (MODY) due to PDX1 mutation in a sib-pair diabetes family from Qatar.Clin Case Rep2021
34814937Genomic medicine in the Middle East.Genome Med2021
34427831A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.J Clin Immunol2021
34795304Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.NPJ Genom Med2021
34091591Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder.Transl Psychiatry2021
32724056Willingness to participate in genome testing: a survey of public attitudes from Qatar.J Hum Genet2020
34589830Brain microstructural changes support cognitive deficits in HIV uninfected children born to HIV infected mothers.Brain Behav Immun Health2020
32006357Genomics of Autism.Adv Neurobiol2020
31943169Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model.J Cell Physiol2020
33153010Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes.Cells2020
32943010A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.BMC Med Genet2020
32661244Genetics of structural and functional brain changes in autism spectrum disorder.Transl Psychiatry2020
32599917Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder.Int J Mol Sci2020
32726939<i>PGAP3</i> Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.Cells2020
30753117Whole-methylome analysis of circulating monocytes in acute diabetic Charcot foot reveals differentially methylated genes involved in the formation of osteoclasts.Epigenomics2019
31625567Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.Hum Mol Genet2019
29713536A systematic review on the genetics of male infertility in the era of next-generation sequencing.Arab J Urol2018
30212457Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.PLoS One2018
29869523Differentially expressed circulating microRNAs in the development of acute diabetic Charcot foot.Epigenomics2018
30446606Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.Biochem J2018
  • 1 - 50 of 65

Recommended Authors

Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 2014
Number of shared co-authors 6
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Career Start Year 2011
Number of shared co-authors 26
Hilary C Martin
Wellcome Sanger Institute
Career Start Year 2010
Number of shared co-authors 7
Christian Gilissen
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 22
Karol Estrada
Brandeis University
Career Start Year 2009
Number of shared co-authors 10
Jeffrey G Reid
Regeneron Pharmaceuticals, Inc.
Career Start Year 2007
Number of shared co-authors 15
Yiran Guo
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Career Start Year 2007
Number of shared co-authors 12
Hana Lango Allen
Institute of Metabolic Science, University of Cambridge
Career Start Year 2007
Number of shared co-authors 5
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Career Start Year 2007
Number of shared co-authors 16
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 17
Kati J Buckingham
University of Washington
Career Start Year 2005
Number of shared co-authors 11
Ali Torkamani
Scripps Science Institute
Career Start Year 2005
Number of shared co-authors 12
Alicia Hawes
Regeneron Pharmaceuticals Inc.
Career Start Year 2004
Number of shared co-authors 13
Jumana Y Al-Aama
King AbdulAziz University
Career Start Year 2003
Number of shared co-authors 8
Sek Won Kong
Boston Children's Hospital, Seoul National University, Seoul National University Hospital
Career Start Year 2003
Number of shared co-authors 4
Daniel G MacArthur
Broad Institute of MIT and Harvard
Career Start Year 2003
Number of shared co-authors 38
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 7
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 24
Yufeng Shen
Columbia University
Career Start Year 2002
Number of shared co-authors 24
Stacey Gabriel
Broad Institute of MIT and Harvard
Career Start Year 2001
Number of shared co-authors 38
Kai Wang
University of Pennsylvania
Career Start Year 2001
Number of shared co-authors 25
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Career Start Year 2001
Number of shared co-authors 19
Neil A Hanchard
Baylor College of Medicine.
Career Start Year 1998
Number of shared co-authors 10
Joshua D Smith
University of Washington
Career Start Year 1998
Number of shared co-authors 17
Unnur Thorsteinsdottir
University of Iceland
Career Start Year 1995
Number of shared co-authors 12
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Career Start Year 1992
Number of shared co-authors 29
Michael J Bamshad
University of Washington
Career Start Year 1989
Number of shared co-authors 38
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 51
Mark J Daly
Massachusetts General Hospital
Career Start Year 1987
Number of shared co-authors 40
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 22

Collaborators

Juan L Rodriguez-Flores
Co-authored papers 11
Hamdi Mbarek
Vrije Universiteit
Co-authored papers 3
Said I Ismail
Qatar Foundation
Co-authored papers 3
Francisco A Perez
Seattle Children's Hospital
Co-authored papers 3
Martina Brueckner
Co-authored papers 2
Tiffany Boughtwood
Murdoch Children's Research Institute
Co-authored papers 2
Magdi H Yacoub
Co-authored papers 2
Esmeralda Casas-Silva
National Cancer Institute
Co-authored papers 2
Marc Fiume
Ontario Institute for Cancer Research
Co-authored papers 2
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 2
Radja Badji
Qatar Foundation Research, Qatar Foundation
Co-authored papers 2
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
Richard P Lifton
The Rockefeller University
Co-authored papers 2
Davide Bedognetti
College of Health and Life Sciences, Hamad Bin Khalifa University, Qatar Foundation
Co-authored papers 2
Angela Page
Broad Institute
Co-authored papers 2
Mehdi Zarrei
Co-authored papers 2
Younes Mokrab
Qatar University
Co-authored papers 2
David Glazer
Verily Life Sciences LLC
Co-authored papers 2
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 1
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 1
Brian Walsh
Oregon Health & Science University
Co-authored papers 1
Gabriele Zoppoli
University of Genoa and Ospedale Policlinico San Martino
Co-authored papers 1
Rachele M Hendricks-Sturrup
Duke-Margolis Center for Health Policy
Co-authored papers 1
Monica C Munoz-Torres
University of Colorado Anschutz Medical Campus
Co-authored papers 1
John Deanfield
Co-authored papers 1
Joseph G Gleeson
University of California
Co-authored papers 1
Megan Doerr
Cleveland Clinic
Co-authored papers 1
Neerjah Skantharajah
Ontario Institute for Cancer Research
Co-authored papers 1
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 1
Robert M Davies
Wellcome Sanger Institute
Co-authored papers 1
Release 1.2