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Publications

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

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

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.

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.

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

Include forthcoming?