A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
Pagnamenta AT. et al, (2025), Clinical Genetics
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
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
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
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
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, (2023), Genetics in Medicine, 25, 37 - 48
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
O’Donnell-Luria AH. et al, (2019), The American Journal of Human Genetics, 104, 1210 - 1222