Date: 16 February 2021
Whole exome sequencing uncovered
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 advent of long-read sequencing offers a new assessment method of detecting genomic
Date: 25 September 2020
An Exploration of Physical and Phenotypic
This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum
Date: 28 April 2019
HER2+ Breast cancer
A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast
Date: 2017
Tree Man Syndrome
Epidermodysplasia verruciformis (EV) is a rare disease of the skin, characterized by abnormal susceptibility
Date: 2018
DETECTION OF CLINICALLY RELEVANT COPY
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term
Date: 2019
Novel mutations in actionable breast
Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway
Date: August 2019
Gonadal mosaicism
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.
