Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Contact information

Email
monahash@well.ox.ac.uk

Mona Hashim

Research Assistant

Recent publications

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
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
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Journal article

Loong L. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Journal article

O'Donnell-Luria AH. et al, (2019), American journal of human genetics, 104, 1210 - 1222

More publications