SHARON PLON to Mutation
This is a "connection" page, showing publications SHARON PLON has written about Mutation.
Connection Strength
1.944
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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: 0.225
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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: 0.190
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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: 0.133
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Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. Cancer Genet. 2025 Sep; 296-297:84-87.
Score: 0.089
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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: 0.077
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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: 0.077
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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: 0.072
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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: 0.059
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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: 0.058
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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: 0.058
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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: 0.058
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Screening for 185delAG in the Ashkenazim. Am J Hum Genet. 1997 May; 60(5):1085-98.
Score: 0.051
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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: 0.050
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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: 0.047
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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: 0.047
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Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
Score: 0.036
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Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34.
Score: 0.035
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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: 0.033
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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: 0.033
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A robust estimator of mutation rates. Mutat Res. 2009 Feb 10; 661(1-2):101-9.
Score: 0.028
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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: 0.026
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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: 0.025
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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: 0.024
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A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 01; 11(13):4689-93.
Score: 0.022
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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: 0.022
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Rare Adenoid Variant of Basal Cell Carcinoma in an African American Child With Nevoid Basal Cell Carcinoma Syndrome: Atypical Nodulocystic Presentation. Am J Dermatopathol. 2025 May 02; 47(7):531-535.
Score: 0.022
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Cancer. A risky business--assessing breast cancer risk. Science. 2003 Oct 24; 302(5645):574-5.
Score: 0.020
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Loss of Sin3/Rpd3 histone deacetylase restores the DNA damage response in checkpoint-deficient strains of Saccharomyces cerevisiae. Mol Cell Biol. 2003 Jul; 23(13):4522-31.
Score: 0.019
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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: 0.019
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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: 0.018
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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: 0.017
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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: 0.017
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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: 0.016
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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: 0.016
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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: 0.015
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.012
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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: 0.011
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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
Score: 0.011
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.011
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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: 0.010
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.010
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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: 0.010
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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: 0.008
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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: 0.008
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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: 0.008
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FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet. 2001 Jun 15; 101(2):130-4.
Score: 0.004