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18 results on '"Noor, Abdul"'

1. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

Author

Blayney, Gillian V., primary, Laffan, Eoghan, additional, Jacob, Preethi A., additional, Baptiste, Caitlin D., additional, Gabriel, Heinz, additional, Sparks, Teresa N., additional, Yaron, Yuval, additional, Norton, Mary E., additional, Diderich, Karin, additional, Wang, Yiming, additional, Chong, Karen, additional, Chitayat, David, additional, Saini, Neelam, additional, Aggarwal, Shagun, additional, Pauta, Montse, additional, Borrell, Antoni, additional, Gilmore, Kelly, additional, Chandler, Natalie J., additional, Allen, Stephanie, additional, Vora, Neeta, additional, Noor, Abdul, additional, Monaghan, Caitriona, additional, Kilby, Mark D., additional, Wapner, Ronald J., additional, Chitty, Lyn S., additional, and Mone, Fionnuala, additional

Published
2023
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4. Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies

Author

Wang, Yiming, primary, Greenfeld, Elena, additional, Watkins, Nicholas, additional, Belesiotis, Peter, additional, Zaidi, Syed H., additional, Marshall, Christian, additional, Thiruvahindrapuram, Bhooma, additional, Shannon, Patrick, additional, Roifman, Maian, additional, Chong, Karen, additional, Chitayat, David, additional, Stavropoulos, Dimitri James, additional, and Noor, Abdul, additional

Published
2022
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5. HomozygousGLULdeletion is embryonically viable and leads to glutamine synthetase deficiency

Author

Roifman, Maian, primary, Niles, Kirsten M., additional, MacNeil, Lauren, additional, Blaser, Susan, additional, Noor, Abdul, additional, Godoy, Ruth, additional, Mieghem, Tim, additional, Ryan, Greg, additional, Seaward, Gareth, additional, Sondheimer, Neal, additional, Mercimek‐Andrews, Saadet, additional, Schulze, Andreas, additional, Hewson, Stacy, additional, Ovadia, Adi, additional, Chitayat, David, additional, Morgen, Eric K., additional, Hojilla, Carlo, additional, Kolomietz, Elena, additional, Watkins, Nicholas, additional, Häberle, Johannes, additional, and Shannon, Patrick, additional

Published
2020
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7. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

Author

Noor, Abdul, primary, Lionel, Anath C., additional, Cohen-Woods, Sarah, additional, Moghimi, Narges, additional, Rucker, James, additional, Fennell, Alanna, additional, Thiruvahindrapuram, Bhooma, additional, Kaufman, Liana, additional, Degagne, Bryan, additional, Wei, John, additional, Parikh, Sagar V., additional, Muglia, Pierandrea, additional, Forte, Julia, additional, Scherer, Stephen W., additional, Kennedy, James L., additional, Xu, Wei, additional, McGuffin, Peter, additional, Farmer, Anne, additional, Strauss, John, additional, and Vincent, John B., additional

Published
2014
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11. Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q

Author

Vincent, John B., primary, Noor, Abdul, additional, Windpassinger, Christian, additional, Gianakopoulos, Peter J., additional, Schwarzbraun, Thomas, additional, Alfred, Simon E., additional, Stachowiak, Beata, additional, Scherer, Stephen W., additional, Roberts, Wendy, additional, Wagner, Klaus, additional, Kroisel, Peter M., additional, and Petek, Erwin, additional

Published
2009
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12. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Medical Genetics Part B (Neuropsychiatric Genetic) 144B:355–360 (2007)

Author

Harvey, Chris G., primary, Menon, Sailesh D., additional, Stachowiak, Beata, additional, Noor, Abdul, additional, Proctor, Adam, additional, Mensah, Albert K., additional, Mnatzakanian, Gevork N., additional, Alfred, Simon E., additional, Guo, Ray, additional, Scherer, Stephen W., additional, Kennedy, James L., additional, Roberts, Wendy, additional, Srivastava, Anand K., additional, Minassian, Berge A., additional, and Vincent, John B., additional

Published
2007
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14. Sequence variants within exon 1 of MECP2 occur in females with mental retardation

Author

Harvey, Chris G., primary, Menon, Sailesh D., additional, Stachowiak, Beata, additional, Noor, Abdul, additional, Proctor, Adam, additional, Mensah, Albert K., additional, Mnatzakanian, Gevork N., additional, Alfred, Simon E., additional, Guo, Ray, additional, Scherer, Stephen W., additional, Kennedy, James L., additional, Roberts, Wendy, additional, Srivistava, Anand K., additional, Minassian, Berge A., additional, and Vincent, John B., additional

Published
2006
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17. Validation of low-pass genome sequencing for prenatal diagnosis.

Author

Mighton C, Noor A, Watkins N, Di Gioacchino V, Lerner-Ellis J, Wong A, Mukharryamova E, Anggala N, Chitayat D, and Greenfeld E

Subjects
Pregnancy, Female, Humans, Chromosome Mapping, Microarray Analysis, Prenatal Diagnosis, DNA Copy Number Variations
Abstract

Objective: Chromosomal microarray (CMA), while considered the gold standard for detecting copy number variants (CNVs) in prenatal diagnostics, has its limitations, including the necessity to replace aging microarray equipment, low throughput, a static design, and an inefficient multi-day workflow. This study evaluates the feasibility of low-pass genome sequencing (LP-GS) as a potential replacement for CMA in prenatal diagnostics., Methods: We comprehensively compared LP-GS at 10x and 5x average depths with CMA in a prenatal laboratory. We examined parameters, including concordance, sensitivity, specificity, workflow efficiency, and cost-effectiveness., Results: We found a high degree of agreement between LP-GS and CMA for detecting CNVs and absence of heterozygosity. Furthermore, compared to CMA, LP-GS increased workflow efficiency and proved to be cost-neutral at 10x and cost-effective at 5x., Conclusion: Our study suggests that LP-GS is a promising alternative to CMA in prenatal diagnostics, offering advantages, including a more efficient workflow and scalability for larger testing volumes. Importantly, for clinical laboratories that have adopted next-generation sequencing in a separate capacity, LP-GS facilitates a unified NGS-centric approach, enabling workflow consolidation. By offering a single, streamlined platform for detecting a broad range of genetic variants, LP-GS may represent a critical step toward enhancing the diagnostic capabilities of prenatal laboratories., (© 2024 John Wiley & Sons Ltd.)

Published
2024
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18. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Author

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, and Mone F

Subjects
Humans, Female, Pregnancy, Prospective Studies, Nervous System Malformations genetics, Nervous System Malformations diagnosis, Nervous System Malformations epidemiology, Central Nervous System abnormalities, Prenatal Diagnosis methods, Prenatal Diagnosis statistics & numerical data, Exome Sequencing methods, Exome Sequencing statistics & numerical data
Abstract

Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities., Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model., Results: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I 2  = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I 2  = 74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I 2  = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I 2  = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I 2  = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus., Conclusions: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex., (© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Published
2024
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