Usage examples for all datasets listed in the Registry of Open Data on AWS tagged with pediatric.
Tools & Applications
Publications
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Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy by Eshini Panditharatna, Lindsay B Kilburn, et al.
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Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. by Mary C Whitman, Noriko Miyake, et al.
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. by Suzanna G M Frints, Friederike Hennig, et al.
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Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers. by Fengqi Chang, Fumin Lin, et al.
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Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing. by Allison H Seiden, Felix Richter, et al.
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Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect by Sherin Shaaban, Sarah MacKinnon et al.
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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios. by Madison R Bishop, Kimberly K Diaz Perez, et al.
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Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease. by Felix Richter, Sarah U Morton, et al.
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Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. by Laura Egolf, Zalman Vaksman, et al.
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Germline microsatellite genotypes differentiate children with medulloblastoma. by Samuel Rivero-Hinojosa, Nicholas Kinney, et al.
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance by William B Dobyns, Kimberly A Aldinger, et al.
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MAGEL2-Related Disorders: A study and case series. by Jameson Patak, James Gilfert, et al.
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Phenotype delineation of ZNF462 related syndrome. by Paul Kruszka, Tommy Hu, et al.
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The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. by Deanne M Taylor, Bruce J Aronow, et al.
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Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. by Nandita Mukhopadhyay, Madison Bishop, et al.
Tools & Applications
Publications
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A road map for the treatment of pediatric diffuse midline glioma by Carl Koschmann, Wajd N Al-Holou, Marta M Alonso, et al.
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Generation and multi-dimensional profiling of a childhood cancer cell line atlas defines new therapeutic opportunities by Claire Xin Sun, Paul Daniel, Gabrielle Bradshaw et al.
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Germline analysis of an international cohort of pediatric diffuse midline glioma patients by Marion K Mateos, Pamela Ajuyah, Noemi Fuentes-Bolanos, et al.
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Multi-scale signaling and tumor evolution in high-grade gliomas by Jingxian Liu, Song Cao, Kathleen J Imback, et al.
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Multiparametric MRI along with machine learning predicts prognosis and treatment response in pediatric low-grade glioma by Anahita Gathi Kazerooni, Adam Kraya, Komal S Rathi, Meen Chul Kim, et al.
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OpenPBTA: The Open Pediatric Brain Tumor Atlas by Joshua A Shapiro, Krutika S Gaonkar, Stephanie J Spielman, et al.
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The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science. by Jena V Lilly, Jo Lynne Rokita, Jennifer L Mason, et al.
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The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study by Logine Negm, Jiil Chung, Liana Nobre, et al.
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Use of External Control Cohorts in Pediatric Brain Tumor Clinical Trials by Ashley S Margol, Annette M Molinaro, Arzu Onar-Thomas, et al.
Tutorials
Tools & Applications
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BIBsnet by Timothy J. Hendrickson et al.
Publications
If you want to add a dataset or usage example to this registry, please follow the instructions on the Registry of Open Data on AWS GitHub repository or tell us about your project.
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