Contact information
Mona Hashim
Research Assistant
Recent publications
-
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Journal article
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
Journal article
Pagnamenta AT. et al, (2023), Genome Medicine, 15
-
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Journal article
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
Journal article
Hashim M. et al, (2023), Clinical Genetics, 104, 390 - 392
-
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
Journal article
Pagnamenta AT. et al, (2023), Human Mutation, 2023, 1 - 9