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


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


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.