Contact information
Mona Hashim
Research Assistant
Recent publications
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A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
Pagnamenta AT. et al, (2025), Clinical Genetics
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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
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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
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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
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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