Date: 16 February 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
Collectively, this study adds to the genetic heterogeneity of rare genetic diseases and is the first report elucidating the genetic profile of (consanguineous and nonconsanguineous) rare genetic diseases in the Bangladesh population.
Date: 19 February 2021
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
The advent of long-read sequencing offers a new assessment method of detecting genomic
Date: 25 September 2020
An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum
Date: 28 April 2019
Antibody-drug conjugate T-DM1 treatment for HER2+ breast cancer induces ROR1 and confers resistance through activation of Hippo transcriptional coactivator YAP1
A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast
Date: 2017
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
Epidermodysplasia verruciformis (EV) is a rare disease of the skin, characterized by abnormal susceptibility
Date: 2018
Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term
Date: 2019
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort
Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway
Date: August 2019
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
Intellectual disability (ID) is a complex condition that can impact multiple domains of development
Date: 2020
ADVANCES IN MOLECULAR PATHOLOGY
Neurodevelopmental disorders (NDD) refer to a collection of rare disorders that manifest during
Date: 06 December 2023
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations
Date: 07 March 2023
Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders
Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children.
Date: 14 Apr 2024
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region
Our deep phenotypic observations identified a spectrum of clinical features that overlap and are unique to PWS, AS, and Dup15q syndromes. Our findings establish genotype-phenotype correlation for patients impacted by variable structural variations within the 15q11-q13 region.
Date: 26 September 2024
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from 576 well-phenotyped and highly consanguineous (16%) NDD cohort.
Date: May 19, 2025
Genomic insights into Rett syndrome-like features in Bangladeshi participants
Rett syndrome (RTT) is a neurological disorder marked by the loss of developmental milestones. Classic RTT involves variants in the methyl-CpG-binding protein 2 (MECP2) gene. Our study examines the genetic basis of typical and atypical RTT, along with RTT-like phenotypes, using MECP2-targeted sequencing (TS) and exome sequencing (ES).
Date: August 15, 2025
Genetic landscape of primary ovarian insufficiency in Bangladeshi women through whole exome sequencing
This study highlights the utility of whole exome sequencing in identifying genetic risk factors for Primary Ovarian Insufficiency, suggesting that incorporating genetic screening into routine clinical practice could improve diagnostic and therapeutic strategies, particularly in regions lacking genomic data on this condition.
