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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.
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C. Uddin M, et al. Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264391 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.
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.
57 results