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Genomic Insights from a Deeply Phenotyped Highly Consanguineous Neurodevelopmental Disorders Cohort.
Akter H, Rahaman MA, Eshaque TB, Mohamed N, Islam A, Morshed M, Shahin Z, Muhaimin A, Foyzullah AM, Mim RA, Omar FB, Hasan MN, Satsangi D, Ahmed N, Al Saba A, Jahan N, Hossen MA, Mondol A, Sakib AS, Kabir R, Chowdhury MSJ, Shams N, Afroz S, Kanta SI, Bhuiyan SJ, Biswas R, Hanif S, Naveed R, Nassir N, Rahman MM, Duan J, Borglum A, Amin R, Basiruzzaman M, Kamruzzaman M, Sarker S, Woodbury-Smith M, Uddin KMF, Nabi AHMN, Uddin M. Akter H, et al. Among authors: woodbury smith m. Genet Med. 2024 Sep 25:101282. doi: 10.1016/j.gim.2024.101282. Online ahead of print. Genet Med. 2024. PMID: 39342494 Free article.
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M. Akter H, et al. BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0. BMC Med Genet. 2019. PMID: 31477031 Free PMC article.
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Sarker S, Eshaque TB, Soorajkumar A, Nassir N, Zehra B, Kanta SI, Rahaman MA, Islam A, Akter S, Ali MK, Mim RA, Uddin KMF, Chowdhury MSJ, Shams N, Baqui MA, Lim ET, Akter H, Woodbury-Smith M, Uddin M. Sarker S, et al. Among authors: woodbury smith m. Sci Rep. 2023 Dec 6;13(1):21547. doi: 10.1038/s41598-023-48982-w. Sci Rep. 2023. PMID: 38057384 Free PMC article.
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
Rahman MM, Uddin KF, Al Jezawi NK, Karuvantevida N, Akter H, Dity NJ, Rahaman MA, Begum M, Rahaman MA, Baqui MA, Salwa Z, Islam S, Woodbury-Smith M, Basiruzzaman M, Uddin M. Rahman MM, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00954. doi: 10.1002/mgg3.954. Epub 2019 Sep 1. Mol Genet Genomic Med. 2019. PMID: 31475484 Free PMC article.
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Woodbury-Smith M, Lamoureux S, Begum G, Nassir N, Akter H, O'Rielly DD, Rahman P, Wintle RF, Scherer SW, Uddin M. Woodbury-Smith M, et al. Genes (Basel). 2022 Jan 24;13(2):207. doi: 10.3390/genes13020207. Genes (Basel). 2022. PMID: 35205252 Free PMC article.
An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder.
Rahaman MA, Lopa M, Uddin KMF, Baqui MA, Keya SP, Faruk MO, Sarker S, Basiruzzaman M, Islam M, AlBanna A, Jahan N, Chowdhury MAKA, Saha N, Hussain M, Colombi C, O'Rielly D, Woodbury-Smith M, Ghaziuddin M, Rahman MM, Uddin M. Rahaman MA, et al. J Autism Dev Disord. 2021 Jul;51(7):2392-2401. doi: 10.1007/s10803-020-04703-0. J Autism Dev Disord. 2021. PMID: 32975665
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H, Hossain MS, Dity NJ, Rahaman MA, Furkan Uddin KM, Nassir N, Begum G, Hameid RA, Islam MS, Tusty TA, Basiruzzaman M, Sarkar S, Islam M, Jahan S, Lim ET, Woodbury-Smith M, Stavropoulos DJ, O'Rielly DD, Berdeiv BK, Nurun Nabi AHM, Ahsan MN, Scherer SW, Uddin M. Akter H, et al. NPJ Genom Med. 2021 Feb 16;6(1):14. doi: 10.1038/s41525-021-00173-0. NPJ Genom Med. 2021. PMID: 33594065 Free PMC article.
58 results