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Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV.
- Published in:
- Pediatric & Developmental Pathology, 1999, v. 2, n. 1, p. 86, doi. 10.1007/s100249900095
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- Publication type:
- Article
Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.
- Published in:
- Archives of Dermatological Research, 2022, v. 314, n. 10, p. 953, doi. 10.1007/s00403-021-02319-7
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- Publication type:
- Article
Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.
- Published in:
- 2019
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- Publication type:
- journal article
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
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- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1974, doi. 10.3390/jpm12121974
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- Publication type:
- Article
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34523-y
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- Publication type:
- Article
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
- Published in:
- Nature Communications, 2022, v. 13, p. 1, doi. 10.1038/s41467-022-34523-y
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- Publication type:
- Article
Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00497
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- Publication type:
- Article
NRAS Q61R and BRAF G466A mutations in atypical melanocytic lesions newly arising in advanced melanoma patients treated with vemurafenib.
- Published in:
- Journal of Cutaneous Pathology, 2019, v. 46, n. 3, p. 190, doi. 10.1111/cup.13401
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- Publication type:
- Article
Breast cancer genetics: What we know and what we need.
- Published in:
- Nature Medicine, 2001, v. 7, n. 5, p. 552, doi. 10.1038/87876
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- Publication type:
- Article
Correlation Between Plasma Catecholamines, Weight, and Diabetes in Pheochromocytoma and Paraganglioma.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. e4028, doi. 10.1210/clinem/dgab401
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- Publication type:
- Article
Predicting Metastatic Potential in Pheochromocytoma and Paraganglioma: A Comparison of PASS and GAPP Scoring Systems.
- Published in:
- 2020
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- Publication type:
- journal article
Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
- Published in:
- Breast Cancer Research & Treatment, 2020, v. 181, n. 1, p. 181, doi. 10.1007/s10549-020-05612-7
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- Publication type:
- Article
A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 2, p. 304, doi. 10.1002/ajmg.c.31562
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- Publication type:
- Article
Inherited Mutations in Pheochromocytoma and Paraganglioma: Why All Patients Should Be Offered Genetic Testing.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2013, v. 20, n. 5, p. 1444, doi. 10.1245/s10434-013-2942-5
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- Publication type:
- Article
Immunotherapy at Large: The road to personalized cancer vaccines.
- Published in:
- Nature Medicine, 2013, v. 19, n. 9, p. 1098, doi. 10.1038/nm.3317
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- Publication type:
- Article
Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma.
- Published in:
- Nature Medicine, 2011, v. 17, n. 8, p. 941, doi. 10.1038/nm.2407
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- Publication type:
- Article
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 811, doi. 10.1038/ng.393
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- Publication type:
- Article
A practical approach to adjusting for population stratification in genome-wide association studies: principal components and propensity scores (PCAPS).
- Published in:
- Statistical Applications in Genetics & Molecular Biology, 2018, v. 17, n. 6, p. 1, doi. 10.1515/sagmb-2017-0054
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- Publication type:
- Article
A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01598-3
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- Publication type:
- Article
Expression of Drug Targets in Patients Treated with Sorafenib, Carboplatin and Paclitaxel.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0069748
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- Publication type:
- Article
The Anti-Melanoma Activity of Dinaciclib, a Cyclin-Dependent Kinase Inhibitor, Is Dependent on p53 Signaling.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059588
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- Publication type:
- Article
Filaggrin sequencing and bioinformatics tools.
- Published in:
- Archives of Dermatological Research, 2020, v. 312, n. 2, p. 155, doi. 10.1007/s00403-019-01956-3
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- Publication type:
- Article
Intestinal perforation in Ehlers-Danlos syndrome after enema treatment for constipation.
- Published in:
- 1998
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- Publication type:
- journal article
Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1145, doi. 10.1007/s00439-016-1707-1
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- Publication type:
- Article
A functionally significant SNP in TP53 and breast cancer risk in African-American women.
- Published in:
- NPJ Breast Cancer, 2017, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41523-017-0007-9
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- Publication type:
- Article
Pheochromocytoma: the expanding genetic differential diagnosis.
- Published in:
- 2003
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- Publication type:
- journal article
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Lower abdominal and pelvic radiation and testicular germ cell tumor risk.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0239321
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- Publication type:
- Article
Genetic variants demonstrating flip‑flop phenomenon and breast cancer risk prediction among women of African ancestry.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 168, n. 3, p. 703, doi. 10.1007/s10549-017-4638-1
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- Publication type:
- Article
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.
- Published in:
- 2012
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- Publication type:
- Report
The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1119, doi. 10.1007/s10549-011-1938-8
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- Publication type:
- Article
Lack of association between common single nucleotide polymorphisms in the TERT- CLPTM1L locus and breast cancer in women of African ancestry.
- Published in:
- 2012
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- Publication type:
- Report
No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
- Published in:
- Breast Cancer Research & Treatment, 2009, v. 117, n. 2, p. 371, doi. 10.1007/s10549-008-0257-1
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- Publication type:
- Article
No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2009, v. 115, n. 2, p. 307, doi. 10.1007/s10549-008-0083-5
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- Publication type:
- Article
Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.
- Published in:
- 2018
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- Publication type:
- journal article
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00710-x
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- Publication type:
- Article
Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22.
- Published in:
- Oncogene, 2000, v. 19, n. 36, p. 4170, doi. 10.1038/sj.onc.1203735
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- Publication type:
- Article
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
- Published in:
- 2016
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- Publication type:
- journal article
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2014
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- Publication type:
- journal article
Common breast cancer risk variants in the post-COGS era: a comprehensive review.
- Published in:
- 2013
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- Publication type:
- journal article
Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-127
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- Publication type:
- Article
Comparison of Address-based Sampling and Random-digit Dialing Methods for Recruiting Young Men as Controls in a Case-Control Study of Testicular Cancer Susceptibility.
- Published in:
- American Journal of Epidemiology, 2013, v. 178, n. 11, p. 1638, doi. 10.1093/aje/kwt164
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- Publication type:
- Article
Deletion of 15q11.2–15q13.1 in isolated human hemimegalencephaly.
- Published in:
- 2009
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- Publication type:
- Letter
Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
- Published in:
- Briefings in Bioinformatics, 2016, v. 17, n. 4, p. 672, doi. 10.1093/bib/bbv075
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- Publication type:
- Article
Association of breast cancer risk and the mTOR pathway in women of African ancestry in 'The Root' Consortium.
- Published in:
- Carcinogenesis, 2017, v. 38, n. 8, p. 789, doi. 10.1093/carcin/bgx055
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- Publication type:
- Article
Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers.
- Published in:
- Carcinogenesis, 2013, v. 34, n. 7, p. 1520, doi. 10.1093/carcin/bgt090
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- Publication type:
- Article
Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry.
- Published in:
- Carcinogenesis, 2012, v. 33, n. 4, p. 835, doi. 10.1093/carcin/bgs093
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- Publication type:
- Article
Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 6140, doi. 10.1038/ncomms7140
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- Publication type:
- Article
Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 119, doi. 10.1111/cge.14231
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- Publication type:
- Article
Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation.
- Published in:
- 2020
- By:
- Publication type:
- journal article