Cystic fibrosis carrier screening in a North American population

Autor: Val V. Zvereff, Marcia Edwards, Hawazin Faruki, Kenneth J. Friedman

Publikováno v: Genetics in Medicine. 16:539-546

The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel and a 69-mutation panel used for cystic fibrosis carrier screening. Further aims of the study were to examine the race-specific detection rates provided

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f130294586537c51a9c97c79ce012ad
https://doi.org/10.1038/gim.2013.188

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report

Autor: Val V. Zvereff, Amy Pizzino, Meaghan Martin, Jessica E. King, Amy Dexter, Adeline Vanderver, Inder K. Gadi, Miriam Bloom, Johanna L. Schmidt

Publikováno v: Journal of genetic counseling. 23(5)

Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bfe60fca90688f9c1ef61325b18e93
https://pubmed.ncbi.nlm.nih.gov/24777551

Genomic epidemiology and emergence of SARS-CoV-2 variants of concern in the United Arab Emirates.

Autor: Alsafar H; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates.; Department of Biomedical Engineering, College of Engineering, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; Emirates Bio-Research Center, Ministry of Interior, Abu Dhabi, United Arab Emirates., Albreiki M; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates., Mousa M; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates.; Nuffield Department of Women's and Reproduction Health, Oxford University, Oxford, UK., Azman SK; Department of Electrical Engineering and Computer Science, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates., Vurivi H; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates., Waasia F; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates., Ruta D; Emirates ICT Innovation Center (EBTIC), Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates., Alhosani F; Abu Dhabi Public Health Center, Abu Dhabi Department of Health, Abu Dhabi, United Arab Emirates., Almazrouei S; Abu Dhabi Public Health Center, Abu Dhabi Department of Health, Abu Dhabi, United Arab Emirates., Abuyadek R; Abu Dhabi Public Health Center, Abu Dhabi Department of Health, Abu Dhabi, United Arab Emirates.; High Institute of Public Health, Alexandria University, Alexandria, Egypt., Selvaraj F; Department Laboratory Medicine Services, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Chaves-Coira I; Molecular and Genetics Department, UniLabs, Abu Dhabi, United Arab Emirates., Zvereff V; Department of Molecular Diagnostics, National Reference Laboratory, Abu Dhabi, United Arab Emirates.; Department of Pathology, College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates., Abdel-Malek MAY; Molecular Biology Laboratory, Mediclinic Alnoor Hospital, Abu Dhabi, United Arab Emirates.; Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt., Alkaabi N; Department of Pediatric Infectious Disease, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Uddin M; Department of Pediatric Infectious Disease, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Awadhi T; Ministry of Health and Prevention, Dubai, United Arab Emirates., Al Marzouqi N; Ministry of Health and Prevention, Dubai, United Arab Emirates., Al Attar F; Ministry of Health and Prevention, Dubai, United Arab Emirates., Al Shamsi S; Ministry of Health and Prevention, Dubai, United Arab Emirates., Al Shehhi F; Ministry of Health and Prevention, Dubai, United Arab Emirates., Alteneiji H; Ministry of Health and Prevention, Dubai, United Arab Emirates., Mohamed K; Ministry of Health and Prevention, Dubai, United Arab Emirates., Al Muhairi N; Ministry of Health and Prevention, Dubai, United Arab Emirates., AlRand H; Ministry of Health and Prevention, Dubai, United Arab Emirates., Fikri A; Ministry of Health and Prevention, Dubai, United Arab Emirates., Henschel A; Center for Biotechnology, Khalifa University of Science and Technology, PO BOX, 127788, Abu Dhabi, United Arab Emirates. Andreas.Henschel@ku.ac.ae.; Department of Electrical Engineering and Computer Science, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates. Andreas.Henschel@ku.ac.ae.

Publikováno v: Scientific reports [Sci Rep] 2022 Aug 29; Vol. 12 (1), pp. 14669. Date of Electronic Publication: 2022 Aug 29.

Four-copy number intervals in SNP microarray analysis: unique patterns and positions.

Autor: Papenhausen PR; Department of Cytogenetics, Laboratory Corporation of America, Research Triangle Park, N.C., USA., Kelly CA, Zvereff V, Schwartz S

Publikováno v: Cytogenetic and genome research [Cytogenet Genome Res] 2014; Vol. 144 (2), pp. 92-103. Date of Electronic Publication: 2014 Nov 15.

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

Autor: Zvereff V; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. zverefv@labcorp.com, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L

Publikováno v: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Aug; Vol. 14 (4), pp. 505-10.