SHARON PLON to Humans
This is a "connection" page, showing publications SHARON PLON has written about Humans.
Connection Strength
1.274
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A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic. Fam Cancer. 2024 Nov 20; 24(1):8.
Score: 0.026
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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15; 30(20):4566-4571.
Score: 0.026
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Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol. 2024 Sep; 8:e2400187.
Score: 0.025
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Ten Years of Incidental, Secondary, and Actionable Findings. N Engl J Med. 2023 Nov 09; 389(19):1813-1814.
Score: 0.024
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Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.
Score: 0.024
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Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.
Score: 0.022
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Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32.
Score: 0.021
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Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders. J Clin Oncol. 2022 01 01; 40(1):5-7.
Score: 0.021
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A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.018
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Genetic Predisposition to Childhood Cancer in the Genomic Era. Annu Rev Genomics Hum Genet. 2019 08 31; 20:241-263.
Score: 0.018
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Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 01; 40(1):73-89.
Score: 0.017
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Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552.
Score: 0.017
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The Ancestral Pace of Variant Reclassification. J Natl Cancer Inst. 2018 10 01; 110(10):1133-1134.
Score: 0.017
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Insights from the 2018 Biology of Genomes meeting. Genome Biol. 2018 09 28; 19(1):146.
Score: 0.017
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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017 Nov 28; 18(1):225.
Score: 0.016
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50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders. J Pediatr. 2017 01; 180:115.
Score: 0.015
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Improvement of outcomes for TP53 carriers. Lancet Oncol. 2016 09; 17(9):1184-6.
Score: 0.015
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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 06; 26(6):271-9.
Score: 0.014
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076.
Score: 0.014
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.014
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Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatr Blood Cancer. 2016 Mar; 63(3):511-5.
Score: 0.014
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.013
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Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics. 2015; 43(3):529-37.
Score: 0.013
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Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.
Score: 0.012
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Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers. Breast Cancer Res Treat. 2011 Aug; 129(1):221-7.
Score: 0.010
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Unifying cancer genetics. Genet Med. 2011 Mar; 13(3):203-4.
Score: 0.010
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Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med. 2011 Feb; 13(2):148-54.
Score: 0.010
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.
Score: 0.010
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Utilizing Saccharomyces cerevisiae to identify aneuploidy and cancer susceptibility genes. Methods Mol Biol. 2010; 653:73-85.
Score: 0.009
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Overexpression of ZNF342 by juxtaposition with MPO promoter/enhancer in the novel translocation t(17;19)(q23;q13.32) in pediatric acute myeloid leukemia and analysis of ZNF342 expression in leukemia. Genes Chromosomes Cancer. 2009 Jun; 48(6):480-9.
Score: 0.009
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008 Nov; 29(11):1282-91.
Score: 0.008
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Multiple tumors in a child with germ-line mutations in TP53 and PTEN. N Engl J Med. 2008 Jul 31; 359(5):537-9.
Score: 0.008
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Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15; 112(4):1042-7.
Score: 0.008
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Heterozygous screen in Saccharomyces cerevisiae identifies dosage-sensitive genes that affect chromosome stability. Genetics. 2008 Mar; 178(3):1193-207.
Score: 0.008
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A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma. Genes Chromosomes Cancer. 2007 Sep; 46(9):805-12.
Score: 0.008
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Nuclear import and retention domains in the amino terminus of RECQL4. Gene. 2007 Apr 15; 391(1-2):26-38.
Score: 0.007
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Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia. J Cell Biol. 2006 Oct 23; 175(2):225-35.
Score: 0.007
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CHES1/FOXN3 interacts with Ski-interacting protein and acts as a transcriptional repressor. Gene. 2005 Oct 10; 359:119-26.
Score: 0.007
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Inherited susceptibility for pediatric cancer. Cancer J. 2005 Jul-Aug; 11(4):255-67.
Score: 0.007
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Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. Clin Cancer Res. 2025 Apr 14; 31(8):1491-1503.
Score: 0.007
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Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome. Cancer Genet. 2025 Apr; 292-293:106-110.
Score: 0.007
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Risk of carcinomas among children and adolescents with birth defects. Cancer Epidemiol. 2025 Apr; 95:102748.
Score: 0.007
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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource. Am J Hum Genet. 2025 Feb 06; 112(2):215-223.
Score: 0.007
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Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer. 2005 Jan; 42(1):82-6.
Score: 0.007
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143.
Score: 0.006
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Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders. Clin Cancer Res. 2024 Nov 15; 30(22):5009-5020.
Score: 0.006
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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clin Cancer Res. 2024 Oct 01; 30(19):4286-4295.
Score: 0.006
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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443.
Score: 0.006
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Implementation of a dyadic nomenclature for monogenic diseases. Am J Hum Genet. 2024 Sep 05; 111(9):1810-1818.
Score: 0.006
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Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults. Clin Cancer Res. 2024 Aug 15; 30(16):3378-3387.
Score: 0.006
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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. Annu Rev Biomed Data Sci. 2024 Aug; 7(1):31-50.
Score: 0.006
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Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. Am J Med Genet A. 2004 Jun 15; 127A(3):224-9.
Score: 0.006
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Genomic sequencing research in pediatric cancer care: Decision making, attitudes, and perceived utility among adolescents and young adults and their parents. Genet Med. 2024 Aug; 26(8):101168.
Score: 0.006
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Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test? Clin Cancer Res. 2024 May 01; 30(9):1733-1738.
Score: 0.006
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Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group. JAMA Netw Open. 2024 03 04; 7(3):e244170.
Score: 0.006
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Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle". J Genet Couns. 2024 Dec; 33(6):1337-1350.
Score: 0.006
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Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? Genet Med. 2024 02; 26(2):101033.
Score: 0.006
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Cancer. A risky business--assessing breast cancer risk. Science. 2003 Oct 24; 302(5645):574-5.
Score: 0.006
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
Score: 0.006
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Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children. Cancer. 2024 02 01; 130(3):467-475.
Score: 0.006
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Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023; 40(8):719-738.
Score: 0.006
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Associations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site. Cancer. 2023 10 15; 129(20):3300-3308.
Score: 0.006
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Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 07; 95(9):669-74.
Score: 0.006
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Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A. 2003 Apr 30; 118A(3):299-301.
Score: 0.006
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The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
Score: 0.006
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Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 10; 60(10):987-992.
Score: 0.006
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Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research. J Adolesc Young Adult Oncol. 2023 10; 12(5):773-781.
Score: 0.006
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Primary care physicians' attitudes and practices regarding cancer genetics: a comparison of 2001 with 1996 survey results. J Cancer Educ. 2003; 18(2):91-4.
Score: 0.006
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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575.
Score: 0.006
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Linking sister chromatid cohesion and apoptosis: role of Rad21. Mol Cell Biol. 2002 Dec; 22(23):8267-77.
Score: 0.006
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Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition. Cancer Prev Res (Phila). 2022 10 04; 15(10):645-652.
Score: 0.006
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FOCAD Indel in a Family With Juvenile Polyposis Syndrome. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):56-58.
Score: 0.005
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Counseling the at risk patient in the BRCA1 and BRCA2 Era. Obstet Gynecol Clin North Am. 2002 Jun; 29(2):341-66, vii.
Score: 0.005
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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet. 2002 Jul; 71(1):165-7.
Score: 0.005
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A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 07; 24(7):760-774.
Score: 0.005
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 05; 24(5):986-998.
Score: 0.005
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022 01 18; 14(1):6.
Score: 0.005
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Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56.
Score: 0.005
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Expression and localization of the CDC34 ubiquitin-conjugating enzyme in pediatric acute lymphoblastic leukemia. Cell Growth Differ. 2001 Aug; 12(8):427-33.
Score: 0.005
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Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling. JCO Precis Oncol. 2021; 5.
Score: 0.005
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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22; 102(1):11-7.
Score: 0.005
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Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 09; 255(1):52-61.
Score: 0.005
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 07 01; 113(7):875-883.
Score: 0.005
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236.
Score: 0.005
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Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: a community-based study. Genet Med. 2000 Nov-Dec; 2(6):307-11.
Score: 0.005
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Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prev Res (Phila). 2021 02; 14(2):215-222.
Score: 0.005
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Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Am J Hum Genet. 2020 07 02; 107(1):72-82.
Score: 0.005
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Cancer diagnostic profile in children with structural birth defects: An assessment in 15,000 childhood cancer cases. Cancer. 2020 08 01; 126(15):3483-3492.
Score: 0.005
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Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 05 29; 12(1):51.
Score: 0.005
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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1142-1148.
Score: 0.005
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Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273.
Score: 0.005
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A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189.
Score: 0.005
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Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.005
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.
Score: 0.005
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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726.
Score: 0.005
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Psychological and behavioral factors associated with colorectal cancer screening among Ashkenazim. Prev Med. 1999 Aug; 29(2):119-25.
Score: 0.004
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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 09 05; 105(3):625-630.
Score: 0.004
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Human Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis. Mol Cell Biol. 1999 Jul; 19(7):5001-13.
Score: 0.004
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Responsibility, culpability, and parental views on genomic testing for seriously ill children. Genet Med. 2019 12; 21(12):2791-2797.
Score: 0.004
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Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres. Pediatr Blood Cancer. 2019 08; 66(8):e27779.
Score: 0.004
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Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation. Pediatr Blood Cancer. 2019 07; 66(7):e27745.
Score: 0.004
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Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr; 134(4):472-9.
Score: 0.004
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Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim. Genet Med. 1999 Mar-Apr; 1(3):74-9.
Score: 0.004
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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752.
Score: 0.004
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Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed. Prenat Diagn. 2019 04; 39(5):339-343.
Score: 0.004
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Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families. Patient Educ Couns. 2019 05; 102(5):895-901.
Score: 0.004
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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.
Score: 0.004
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019 07; 21(7):1497-1506.
Score: 0.004
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Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents. Patient Educ Couns. 2019 04; 102(4):680-686.
Score: 0.004
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Hum Mutat. 2018 11; 39(11):1713-1720.
Score: 0.004
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ClinGen Allele Registry links information about genetic variants. Hum Mutat. 2018 11; 39(11):1690-1701.
Score: 0.004
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
Score: 0.004
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.004
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Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 11; 39(11):1525-1530.
Score: 0.004
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622.
Score: 0.004
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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019 05; 21(5):1100-1110.
Score: 0.004
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Screening and clinical implications for BRCA1 and BRCA2 mutation carriers. J Mammary Gland Biol Neoplasia. 1998 Oct; 3(4):377-87.
Score: 0.004
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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327.
Score: 0.004
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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993.
Score: 0.004
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Reply. Ophthalmology. 2018 09; 125(9):e64-e65.
Score: 0.004
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Genome-wide sequencing in acutely ill infants: genomic medicine's critical application? Genet Med. 2019 02; 21(2):498-504.
Score: 0.004
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Key Implications of Data Sharing in Pediatric Genomics. JAMA Pediatr. 2018 05 01; 172(5):476-481.
Score: 0.004
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Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.004
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.004
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Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure. Per Med. 2017 11; 14(6):503-514.
Score: 0.004
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The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass. Clin Cancer Res. 2017 Nov 01; 23(21):e133-e137.
Score: 0.004
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Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018 03; 125(3):453-458.
Score: 0.004
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.004
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Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS One. 2017; 12(8):e0180488.
Score: 0.004
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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 07 01; 23(13):e107-e114.
Score: 0.004
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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017 07 01; 23(13):e115-e122.
Score: 0.004
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Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1. Clin Cancer Res. 2017 Jun 15; 23(12):e46-e53.
Score: 0.004
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Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013. PLoS One. 2017; 12(6):e0179006.
Score: 0.004
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Reconstitution of a MEC1-independent checkpoint in yeast by expression of a novel human fork head cDNA. Mol Cell Biol. 1997 Jun; 17(6):3037-46.
Score: 0.004
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Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. Clin Cancer Res. 2017 Jun 01; 23(11):e1-e5.
Score: 0.004
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
Score: 0.004
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Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood. Clin Cancer Res. 2017 Jun 01; 23(11):e32-e37.
Score: 0.004
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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 01; 100(6):895-906.
Score: 0.004
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Screening for 185delAG in the Ashkenazim. Am J Hum Genet. 1997 May; 60(5):1085-98.
Score: 0.004
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Anticipation in pediatric malignancies. Am J Hum Genet. 1997 May; 60(5):1256-7.
Score: 0.004
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.004
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617.
Score: 0.004
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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 01 12; 9(1):3.
Score: 0.004
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.004
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Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117.
Score: 0.004
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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582.
Score: 0.004
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Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 11 01; 34(31):3766-3772.
Score: 0.004
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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2017 05; 64(5).
Score: 0.004
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Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in hispanics. Cancer. 2016 Dec 01; 122(23):3697-3704.
Score: 0.004
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92.
Score: 0.004
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Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.
Score: 0.004
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.
Score: 0.004
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ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. BMC Bioinformatics. 2016 Apr 27; 17:188.
Score: 0.004
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Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop. Cancer Genet. 2016 05; 209(5):182-94.
Score: 0.004
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Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31. Genomics. 1996 Apr 01; 33(1):1-8.
Score: 0.004
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.004
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Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2016 Apr; 108(4).
Score: 0.003
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Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 Nov 17; 6:8891.
Score: 0.003
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A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. J Mol Diagn. 2015 Sep; 17(5):545-53.
Score: 0.003
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CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Nov; 22(6):1231-42.
Score: 0.003
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Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec; 62(6):1914-6.
Score: 0.003
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ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42.
Score: 0.003
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PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9.
Score: 0.003
-
Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database. Cancer Med. 2015 May; 4(5):781-90.
Score: 0.003
-
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
Score: 0.003
-
Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.003
-
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.003
-
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86.
Score: 0.003
-
Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015 Jan 15; 121(2):286-93.
Score: 0.003
-
Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014 Jul 20; 32(21):2203-5.
Score: 0.003
-
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.003
-
Long-term risk of medical conditions associated with breast cancer treatment. Breast Cancer Res Treat. 2014 May; 145(1):233-43.
Score: 0.003
-
Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast. Proc Natl Acad Sci U S A. 1993 Nov 15; 90(22):10484-8.
Score: 0.003
-
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
Score: 0.003
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.003
-
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013 Oct; 15(10):824-32.
Score: 0.003
-
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.
Score: 0.003
-
Experiences and attitudes of genome investigators regarding return of individual genetic test results. Genet Med. 2013 Nov; 15(11):882-7.
Score: 0.003
-
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 2013 May; 35(4):323-8.
Score: 0.003
-
BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist. 2013; 18(5):518-24.
Score: 0.003
-
Statistical analysis of missense mutation classifiers. Hum Mutat. 2013 Feb; 34(2):405-6.
Score: 0.003
-
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 Jun; 60(6):E1-3.
Score: 0.003
-
The practice of adult genetics: a 7-year experience from a single center. Am J Med Genet A. 2013 Jan; 161A(1):89-93.
Score: 0.003
-
Next-generation sequencing in the clinic: are we ready? Nat Rev Genet. 2012 11; 13(11):818-24.
Score: 0.003
-
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54.
Score: 0.003
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
Score: 0.003
-
Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34.
Score: 0.003
-
Clinically relevant changes in family history of cancer over time. JAMA. 2011 Jul 13; 306(2):172-8.
Score: 0.003
-
Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma. Pediatr Blood Cancer. 2012 May; 58(5):801-5.
Score: 0.003
-
Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. Leukemia. 2011 Oct; 25(10):1555-63.
Score: 0.003
-
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 08; 88(4):402-21.
Score: 0.003
-
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat. 2011 Jun; 32(6):661-8.
Score: 0.003
-
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42.
Score: 0.002
-
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.002
-
The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell. 2010 Jun; 9(3):358-71.
Score: 0.002
-
Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2010 Jul; 122(1):281-5.
Score: 0.002
-
Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009 Mar; 144(6):930-2.
Score: 0.002
-
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat. 2008 Nov; 29(11):1273-81.
Score: 0.002
-
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb; 17(2):151-8.
Score: 0.002
-
Differential in vitro cytotoxicity does not explain increased host toxicities from chemotherapy in Down syndrome acute lymphoblastic leukemia. Leuk Res. 2009 Feb; 33(2):336-9.
Score: 0.002
-
Clinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia. Pediatr Blood Cancer. 2008 Aug; 51(2):171-7.
Score: 0.002
-
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet. 2008 Jul; 123(6):643-53.
Score: 0.002
-
Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May; 94(1):105-11.
Score: 0.002
-
Retinoblastoma: review of current management. Oncologist. 2007 Oct; 12(10):1237-46.
Score: 0.002
-
A phase 1 study of the proteasome inhibitor bortezomib in pediatric patients with refractory leukemia: a Children's Oncology Group study. Clin Cancer Res. 2007 Mar 01; 13(5):1516-22.
Score: 0.002
-
Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response. Cancer Res. 2006 Sep 01; 66(17):8397-403.
Score: 0.002
-
Transcription of the human beta-globin gene is stimulated by an SV40 enhancer to which it is physically linked but topologically uncoupled. Cell. 1986 May 23; 45(4):575-80.
Score: 0.002
-
Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked? J Pediatr Surg. 2006 Apr; 41(4):658-61.
Score: 0.002
-
Bortezomib interactions with chemotherapy agents in acute leukemia in vitro. Cancer Chemother Pharmacol. 2006 Jul; 58(1):13-23.
Score: 0.002
-
A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 01; 11(13):4689-93.
Score: 0.002
-
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb; 43(2):148-52.
Score: 0.002
-
Cyclin D and cisplatin cytotoxicity in primary neuroblastoma cell lines. Anticancer Drugs. 2004 Oct; 15(9):883-8.
Score: 0.002
-
Minichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma. Cancer Res. 2002 Feb 15; 62(4):1123-8.
Score: 0.001
-
Cell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37.
Score: 0.001
-
FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet. 2001 Jun 15; 101(2):130-4.
Score: 0.001
-
Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol. 2001 Jan; 20(1):75-86.
Score: 0.001
-
Design and analysis of epidemiological studies of excess cancer among children exposed to Chernobyl radionuclides. Stem Cells. 1997; 15 Suppl 2:211-30.
Score: 0.001
-
Cancer genetics--survey of primary care physicians' attitudes and practices. J Cancer Educ. 1997; 12(4):199-203.
Score: 0.001
-
Abrogation of the G2 checkpoint results in differential radiosensitization of G1 checkpoint-deficient and G1 checkpoint-competent cells. Cancer Res. 1995 Apr 15; 55(8):1639-42.
Score: 0.001
-
The sequence of an adrenal specific human cDNA, pG2. Nucleic Acids Res. 1990 Feb 11; 18(3):685.
Score: 0.001