Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
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| Title: | Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. |
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| Authors: | Akter H; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh.; Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh., Hossain MS; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh., Dity NJ; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Rahaman MA; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Furkan Uddin KM; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Nassir N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE., Begum G; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE., Hameid RA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE., Islam MS; BioTED, Dhaka, Bangladesh., Tusty TA; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh., Basiruzzaman M; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh.; Department of Child Neurology, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Sarkar S; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh.; Department of Child Neurology, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Islam M; Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh.; Department of Child Neurology, NeuroGen Children's Healthcare, Dhaka, Bangladesh., Jahan S; Department of Endocrinology & Metabolism, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh., Lim ET; Department of Genetics, Harvard Medical School, Boston, USA., Woodbury-Smith M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Stavropoulos DJ; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada., O'Rielly DD; Faculty of Medicine, Memorial University, St. John's, NL, Canada., Berdeiv BK; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE., Nurun Nabi AHM; Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh., Ahsan MN; Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE. mohammed.uddin@mbru.ac.ae. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2021 Feb 16; Vol. 6 (1), pp. 14. Date of Electronic Publication: 2021 Feb 16. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-021-00173-0 |
