Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
Khan R et al.
Journal of Immunology (baltimore, Md. : 1950), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
Khan R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Jiang C et al.
Blood Science (baltimore, Md.), 2023
DNA replication initiation factor RECQ4 possesses a role in antagonizing DNA replication initiation.
Xu X et al.
Nature Communications, 2023
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Marmolejo Castañeda DH et al.
Familial Cancer, 2023
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA et al.
Clinical Genetics, 2021
Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W et al.
Molecular and Cellular Biology, 2021
Clinical challenges in interpreting multiple pathogenic mutations in single patients.
Slaught C et al.
Hereditary Cancer in Clinical Practice, 2021
Molecular Mechanisms of the RECQ4 Pathogenic Mutations.
Xu X et al.
Frontiers in Molecular Biosciences, 2021
iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.
Gatinois V et al.
Stem Cell Research, 2020
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB et al.
Frontiers in Genetics, 2020
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J et al.
Frontiers in Immunology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J et al.
Lancet (london, England), 2019
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA et al.
International Journal of Molecular Sciences, 2018
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA et al.
Molecular Genetics & Genomic Medicine, 2016
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J et al.
Clinical Genetics, 2015
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Colombo EA et al.
European Journal of Human Genetics : Ejhg, 2014
Rothmund-thomson syndrome: a 13-year follow-up.
Guerrero-González GA et al.
Case Reports in Dermatology, 2014
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L et al.
Journal of Medical Genetics, 2006
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Siitonen HA et al.
Human Molecular Genetics, 2003
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Wang LL et al.
Journal of the National Cancer Institute, 2003