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Molecular Cancer Research : MCR|October 22, 2021
Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction VariantsEmilia M Pinto, Kara N Maxwell, Hadeel Halalsheh, et al.
Blood Advances|July 8, 2026
Outcomes of Germline Testing for Children with Hematologic Malignancies Undergoing Hematopoietic Cell TransplantationArti S Pandey, Roya Mostafavi, Emily Ashcraft, et al.
Pediatric Blood & Cancer|July 22, 2024
Outcomes for children with recurrent/refractory atypical teratoid rhabdoid tumor: A single-institution study with molecular correlationSteven S Carey, Jie Huang, Jason R Myers, et al.
Pediatric Blood & Cancer|November 19, 2019
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variantsCarmen L Wilson, Zhaoming Wang, Qi Liu, et al.
Neuro-Oncology|June 2, 2022
Phase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumorSanthosh A Upadhyaya, Olivia Campagne, Catherine A Billups, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcomaJamie L Maciaszek, Ninad Oak, Wenan Chen, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 19, 2021
Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional TrialsSanthosh A Upadhyaya, Giles W Robinson, Arzu Onar-Thomas, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
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