المؤلفون: Alenbawi J; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar., Al-Sarraj YA; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.; Qatar Genome Program (QGP), Qatar Foundation Research, Development and Innovation, Qatar Foundation (QF), P.O. Box 5825, Doha, Qatar., Umlai UI; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar., Kadhi A; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.; College of Health and Sciences, University of Doha for Science and Technology, P.O. Box 24449, Doha, Qatar., Hendi NN; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar., Nemer G; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar. gnemer@hbku.edu.qa., Albagha OME; Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar. oalbagha@hbku.edu.qa.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. oalbagha@hbku.edu.qa.

المصدر: Human genomics [Hum Genomics] 2024 Aug 01; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2024 Aug 01.

نوع المنشور: Journal Article; Meta-Analysis

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Phytosterols*/blood , Phytosterols*/genetics , Phytosterols*/adverse effects , Polymorphism, Single Nucleotide*/genetics , Sitosterols*/blood , Lipid Metabolism, Inborn Errors*/genetics , Lipid Metabolism, Inborn Errors*/blood , ATP Binding Cassette Transporter, Subfamily G, Member 5*/genetics , ATP Binding Cassette Transporter, Subfamily G, Member 8*/genetics, Humans ; Male ; Female ; Intestinal Diseases/genetics ; Intestinal Diseases/blood ; Adult ; Cholesterol/blood ; Cholesterol/analogs & derivatives ; Hypercholesterolemia/genetics ; Hypercholesterolemia/blood ; Middle Aged ; Lipoproteins/blood ; Lipoproteins/genetics ; ATP-Binding Cassette Transporters/genetics

SCR Disease Name: Sitosterolemia

المؤلفون: Aliyu U; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar., Umlai UI; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar., Toor SM; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar., Elashi AA; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar., Al-Sarraj YA; Qatar Genome Program (QGP), Qatar Foundation Research, Development and Innovation, Qatar Foundation (QF), Doha, Qatar., Abou Samra AB; Qatar Metabolic Institute, Hamad Medical Corporation, Doha, Qatar., Suhre K; Bioinformatics Core, Weill Cornell Medicine-Qatar, Doha, Qatar.; Department of Biophysics and Physiology, Weill Cornell Medicine, New York, NY, United States., Albagha OME; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Doha, Qatar.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 13; Vol. 15, pp. 1384103. Date of Electronic Publication: 2024 Jun 13 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Insulin Resistance*/genetics , Genome-Wide Association Study* , Multifactorial Inheritance* , Diabetes Mellitus, Type 2*/genetics, Humans ; Female ; Male ; Middle Aged ; Adult ; Qatar/epidemiology ; Polymorphism, Single Nucleotide ; Insulin-Secreting Cells/metabolism ; Aged ; Body Mass Index ; Cohort Studies ; Genetic Predisposition to Disease

المؤلفون: Elashi AA; College of Health and Life Sciences (CHLS), Foundation (QF), Hamad Bin Khalifa University (HBKU), Education City, DohaP.O. Box 34110, Qatar., Toor SM; College of Health and Life Sciences (CHLS), Foundation (QF), Hamad Bin Khalifa University (HBKU), Education City, DohaP.O. Box 34110, Qatar., Umlai UI; College of Health and Life Sciences (CHLS), Foundation (QF), Hamad Bin Khalifa University (HBKU), Education City, DohaP.O. Box 34110, Qatar., Al-Sarraj YA; Qatar Genome Program (QGP), Qatar Foundation Research, Development and Innovation, Qatar Foundation (QF), DohaP.O. Box 5825, Qatar., Taheri S; Qatar Metabolic Institute, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar., Suhre K; Bioinformatics Core, Weill Cornell Medicine-Qatar, Education City, DohaP.O. Box 24144, Qatar.; Department of Biophysics and Physiology, Weill Cornell Medicine, New York, 510065, USA., Abou-Samra AB; Qatar Metabolic Institute, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar., Albagha OME; College of Health and Life Sciences (CHLS), Foundation (QF), Hamad Bin Khalifa University (HBKU), Education City, DohaP.O. Box 34110, Qatar. oalbagha@hbku.edu.qa.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. oalbagha@hbku.edu.qa.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 May 16; Vol. 17 (1), pp. 131. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Elashi AA; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Education City, Doha, P.O. Box 34110, Qatar., Toor SM; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Education City, Doha, P.O. Box 34110, Qatar., Umlai UI; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Education City, Doha, P.O. Box 34110, Qatar., Al-Sarraj YA; Qatar Genome Program (QGP), Qatar Foundation Research, Development and Innovation, Qatar Foundation (QF), Doha, P.O. Box 5825, Qatar., Taheri S; Qatar Metabolic Institute, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar., Suhre K; Bioinformatics Core, Weill Cornell Medicine-Qatar, Education City, Doha, P.O. Box 24144, Qatar.; Department of Biophysics and Physiology, Weill Cornell Medicine, 510065, New York, USA., Abou-Samra AB; Qatar Metabolic Institute, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar., Albagha OME; College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Education City, Doha, P.O. Box 34110, Qatar. oalbagha@hbku.edu.qa.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, EH4 2XU, Edinburgh, UK. oalbagha@hbku.edu.qa.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Apr 29; Vol. 17 (1), pp. 115. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Meta-Analysis

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2*/genetics , Genome-Wide Association Study* , Genetic Predisposition to Disease* , Polymorphism, Single Nucleotide*, Humans ; Qatar/epidemiology ; Male ; Female ; Middle Aged ; Genetic Loci ; Case-Control Studies ; Body Mass Index ; Ethnicity/genetics

المؤلفون: Umlai UI; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Haris B; Department of Pediatric Endocrinology, Sidra Medicine, Doha, Qatar., Hussain K; Department of Pediatric Endocrinology, Sidra Medicine, Doha, Qatar.; Department of Paediatrics, Weill Cornell Medicine - Qatar, Doha, Qatar.; Department of Genetics and Genomics, University College London, London, United Kingdom., Jithesh PV; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Feb 03; Vol. 12, pp. 783235. Date of Electronic Publication: 2022 Feb 03 (Print Publication: 2021).

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Language Development Disorders*/genetics , Microcephaly*/genetics, Chromosome Duplication/genetics ; Humans ; Male ; Phenotype ; Protein Serine-Threonine Kinases ; Retrospective Studies

المؤلفون: Umlai UI; Division of Genomics & Translational Biomedicine, College of Health & Life Sciences, Hamad Bin Khalifa University, B-147, Penrose House, PO Box 34110, Education City, Doha, Qatar., Bangarusamy DK; Division of Genomics & Translational Biomedicine, College of Health & Life Sciences, Hamad Bin Khalifa University, B-147, Penrose House, PO Box 34110, Education City, Doha, Qatar., Estivill X; Quantitative Genomics Laboratories (qGenomics), Barcelona, Catalonia, Spain., Jithesh PV; Division of Genomics & Translational Biomedicine, College of Health & Life Sciences, Hamad Bin Khalifa University, B-147, Penrose House, PO Box 34110, Education City, Doha, Qatar.

المصدر: Briefings in bioinformatics [Brief Bioinform] 2022 Jan 17; Vol. 23 (1).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

مواضيع طبية MeSH: Data Analysis* , Rare Diseases*/diagnosis , Rare Diseases*/genetics, Genetic Association Studies ; Genome ; High-Throughput Nucleotide Sequencing ; Humans ; Software