Contact information
Mona Hashim
Research Assistant
Recent publications
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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
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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
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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
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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