N. J. Dity

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

M. Uddin, M. Woodbury-Smith, S. Islam, 2019, Molecular genetics & genomic medicine.

Detection of Clinically Relevant Copy Number Variations and Genes in a Bangladeshi Cohort of Neurodevelopmental Disorders

M. Uddin, Md. Ismail Hosen, O. Faruk, 2021 .

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

S. Scherer, D. Stavropoulos, M. Uddin, 2021, NPJ genomic medicine.

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

M. Uddin, M. Woodbury-Smith, R. Awwal, 2019, BMC Medical Genetics.

Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort

L. Banu, R. Amin, Hosneara Akter, 2019, Bangladesh Journal of Medicine.

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Md. Mazharul Islam, Md Mazharul Islam, M. Uddin, 2023, Frontiers in Genetics.

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

S. Scherer, M. Uddin, M. Woodbury-Smith, 2018, Clinical case reports.