SHARON PLON to Germ-Line Mutation
This is a "connection" page, showing publications SHARON PLON has written about Germ-Line Mutation.
Connection Strength
4.469
-
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: 0.760
-
Improvement of outcomes for TP53 carriers. Lancet Oncol. 2016 09; 17(9):1184-6.
Score: 0.434
-
Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 06; 26(6):271-9.
Score: 0.429
-
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: 0.249
-
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. Clin Cancer Res. 2025 Apr 14; 31(8):1491-1503.
Score: 0.198
-
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: 0.186
-
Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859.
Score: 0.164
-
Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32.
Score: 0.160
-
Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 05 29; 12(1):51.
Score: 0.141
-
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.
Score: 0.136
-
Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 01; 40(1):73-89.
Score: 0.127
-
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552.
Score: 0.127
-
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: 0.118
-
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: 0.115
-
Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood. Clin Cancer Res. 2017 Jun 01; 23(11):e32-e37.
Score: 0.115
-
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: 0.113
-
Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2016 Apr; 108(4).
Score: 0.103
-
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. J Mol Diagn. 2015 Sep; 17(5):545-53.
Score: 0.102
-
Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.097
-
Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015 Jan 15; 121(2):286-93.
Score: 0.095
-
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.
Score: 0.089
-
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: 0.049
-
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: 0.045
-
Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 10; 60(10):987-992.
Score: 0.043
-
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: 0.042
-
FOCAD Indel in a Family With Juvenile Polyposis Syndrome. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):56-58.
Score: 0.041
-
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: 0.038
-
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: 0.036
-
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: 0.034
-
Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.030
-
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: 0.027
-
PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18(1):13-9.
Score: 0.025