SHARON PLON to Male
This is a "connection" page, showing publications SHARON PLON has written about Male.
Connection Strength
0.608
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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: 0.039
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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: 0.039
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Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.
Score: 0.036
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.021
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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: 0.020
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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: 0.013
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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: 0.013
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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: 0.012
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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: 0.010
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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: 0.010
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Risk of carcinomas among children and adolescents with birth defects. Cancer Epidemiol. 2025 Apr; 95:102748.
Score: 0.010
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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: 0.010
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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Germline pathogenic SMARCA4 variants in neuroblastoma. J Med Genet. 2023 10; 60(10):987-992.
Score: 0.009
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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: 0.009
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.007
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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: 0.007
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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: 0.007
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Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 05 29; 12(1):51.
Score: 0.007
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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: 0.007
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Psychological and behavioral factors associated with colorectal cancer screening among Ashkenazim. Prev Med. 1999 Aug; 29(2):119-25.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr; 134(4):472-9.
Score: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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Screening for 185delAG in the Ashkenazim. Am J Hum Genet. 1997 May; 60(5):1085-98.
Score: 0.006
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Anticipation in pediatric malignancies. Am J Hum Genet. 1997 May; 60(5):1256-7.
Score: 0.006
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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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: 0.005
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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: 0.005
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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: 0.005
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Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec; 62(6):1914-6.
Score: 0.005
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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: 0.005
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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: 0.005
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Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384.
Score: 0.005
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.005
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BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86.
Score: 0.005
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Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer. 2015 Jan 15; 121(2):286-93.
Score: 0.005
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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: 0.005
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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: 0.004
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Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 Jun; 60(6):E1-3.
Score: 0.004
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Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54.
Score: 0.004
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Outcomes of integrating genetics in management of patients with retinoblastoma. Arch Ophthalmol. 2011 Nov; 129(11):1428-34.
Score: 0.004
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Clinically relevant changes in family history of cancer over time. JAMA. 2011 Jul 13; 306(2):172-8.
Score: 0.004
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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: 0.004
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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: 0.004
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.004
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009 Mar; 144(6):930-2.
Score: 0.003
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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: 0.003
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Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May; 94(1):105-11.
Score: 0.003
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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: 0.003
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Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked? J Pediatr Surg. 2006 Apr; 41(4):658-61.
Score: 0.003
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Bortezomib interactions with chemotherapy agents in acute leukemia in vitro. Cancer Chemother Pharmacol. 2006 Jul; 58(1):13-23.
Score: 0.003
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A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 01; 11(13):4689-93.
Score: 0.003
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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: 0.003
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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: 0.002
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Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol. 2001 Jan; 20(1):75-86.
Score: 0.002
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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
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Cancer genetics--survey of primary care physicians' attitudes and practices. J Cancer Educ. 1997; 12(4):199-203.
Score: 0.001