Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.
Marques Da Costa ME et al.
Communications Biology, 2023
37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1
Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
Hussain M et al.
The Journal of Biological Chemistry, 2023
37495109 (PubMed )
Supplement: mmc1.pdf
Molecular Mechanisms of the RECQ4 Pathogenic Mutations.
Xu X et al.
Frontiers in Molecular Biosciences, 2021
Pathogenic mutations reveal a role of RECQ4 in mitochondrial RNA:DNA hybrid formation and resolution.
Chang CW et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
Jensen MB et al.
Aging, 2012
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
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