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Contact information

Email
monahash@well.ox.ac.uk

Mona Hashim

Research Assistant

Recent publications

Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

Pagnamenta AT. et al, (2025), Clinical Genetics, 108, 86 - 91

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Pagnamenta AT. et al, (2024), The American Journal of Human Genetics, 111, 1140 - 1164

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Pagnamenta AT. et al, (2023), Genome Medicine, 15

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann H. et al, (2023), European Journal of Human Genetics, 31, 1251 - 1260

Genome sequencing identifies KMT2E ‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome

Hashim M. et al, (2023), Clinical Genetics, 104, 390 - 392