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Neurogenetics|September 15, 2016
PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.EMBO Reports|May 6, 2016
HUWE1 interacts with PCNA to alleviate replication stressKatherine N Choe, Claudia M Nicolae, Daniel Constantin, et al.American Journal of Human Genetics|January 1, 2019
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to ThriveSimon Edvardson, Claudia M Nicolae, Grace J Noh, et al.Nature Communications|November 13, 2021
WRN helicase safeguards deprotected replication forks in BRCA2-mutated cancer cellsArindam Datta, Kajal Biswas, Joshua A Sommers, et al.Nucleic Acids Research|August 16, 2020
FANCJ compensates for RAP80 deficiency and suppresses genomic instability induced by interstrand cross-linksSanket Awate, Joshua A Sommers, Arindam Datta, et al.Nature Communications|December 1, 2020
Identification of regulators of poly-ADP-ribose polymerase inhibitor response through complementary CRISPR knockout and activation screensKristen E Clements, Emily M Schleicher, Tanay Thakar, et al.Cancer Research|November 29, 2018
STING Promotes Homeostasis via Regulation of Cell Proliferation and Chromosomal StabilityDiana Rose E Ranoa, Ryan C Widau, Stephen Mallon, et al.American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.The Journal of Clinical Investigation|January 13, 2022
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1Bassam Abu-Libdeh, Satpal S Jhujh, Srijita Dhar, et al.Pageof 4