M. Greenblatt

发表

Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features

Wojciech Makalowski, M. Boguski, C. Harris, 1999, Oncogene.

TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution.

P. Chappuis, W. Foulkes, N. Hamel, 2001, Cancer research.

Database of p53 gene somatic mutations in human tumors and cell lines.

R Montesano, T. Sørlie, E. Hovig, 1994, Nucleic acids research.

Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis.

C. Harris, M. Hollstein, M. Greenblatt, 1994, Cancer research.

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

Tudor Groza, Damian Smedley, Barend Mons, 2013, Human mutation.

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)

Andrew J. Grimm, J. Bond, M. Greenblatt, 2007, Human mutation.

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Sue Povey, Mauno Vihinen, Jim Kaput, 2010, Human mutation.

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

H. Firth, A. Cambon-Thomsen, S. Povey, 2010, Human mutation.

Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010

D. Maglott, N. de Wind, P. Møller, 2011, Human mutation.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Raymond Dalgleish, Reece K. Hart, D. Maglott, 2016, Human mutation.

Placing negative multi-gene panel results into clinical context

M. Greenblatt, M. Wood, David J. Hermel, 2017, Familial Cancer.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

A. Spurdle, W. Foulkes, D. Easton, 2008, Human mutation.

In silico analysis of missense substitutions using sequence‐alignment based methods

S. Tavtigian, G. Byrnes, M. Greenblatt, 2008, Human mutation.

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework

R. Nussbaum, Snehit Prabhu, L. Biesecker, 2018, Genetics in Medicine.

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

Douglas F Easton, Edwin S Iversen, E. Iversen, 2008, Human mutation.

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

J. Bond, M. Greenblatt, J. G. Beaudet, 2003, Oncogene.

An automated procedure to identify biomedical articles that contain cancer‐associated gene variants

Fernando Pereira, Ryan McDonald, Ryan T. McDonald, 2006, Human mutation.

Application of a five-tiered scheme for standardized classification of 2 , 360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

Christopher D. Heinen, P. Møller, L. Rasmussen, 2013 .

Therapeutic implications for ovarian cancer emerging from the Tumor Cancer Genome Atlas

C. Verschraegen, M. Greenblatt, A. Howe, 2015 .

Does aflatoxin B1 play a role in the etiology of hepatocellular carcinoma in the United States?

M. Greenblatt, J. Groopman, R. Santella, 1999, Nutrition and cancer.

Does aflatoxin B 1 play a role in the etiology of hepatocellular carcinoma in the United States

M. Greenblatt, J. Groopman, R. Santella, 1999 .

Mutational spectrum of the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis.

C. Harris, M. Greenblatt, W. Bennett, 1994, Drug metabolism reviews.

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions

I. Sarkar, M. Greenblatt, T. Pesaran, 2019, bioRxiv.

Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study

A. Viel, J. Burn, M. Greenblatt, 2006, Clinical Cancer Research.

The type B receptor for tumor necrosis factor-alpha mediates DNA fragmentation in HL-60 and U937 cells and differentiation in HL-60 cells.

M. Greenblatt, L. Elias, M. Greenblatt, 1992, Blood.

Genotype-specificTrp53 Mutational Analysis in Ultraviolet B Radiation-induced Skin Cancers in Xpc and Xpc Trp53Mutant Mice

D. Cheo, J. Bond, M. Greenblatt, 2000 .

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, European journal of cancer.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2020, Genetics in Medicine.

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Andrea Rakushin Lee, N. de Wind, L. Rasmussen, 2020, Genetics in Medicine.

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2020, Genetics in Medicine.

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Aung Ko Win, M. Kloor, B. Bonanni, 2022, Hereditary Cancer in Clinical Practice.

Phase I evaluation of therapy with four schedules of 5-fluorouracil by continuous infusion combined with recombinant interferon alpha.

M. Greenblatt, A. Mangalik, L. Elias, 1995, Clinical cancer research : an official journal of the American Association for Cancer Research.

Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program

M. Greenblatt, M. Wood, David J. Hermel, 2016, Familial Cancer.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

Integrity of p53 in hepatitis B x antigen-positive and -negative hepatocellular carcinomas.

A. Borkowski, C. Harris, M. Greenblatt, 1997, Cancer research.

Assessment of functional effects of unclassified genetic variants

F. Couch, N. de Wind, L. Rasmussen, 2008, Human mutation.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Predrag Radivojac, Biao Li, Alun Thomas, 2013, Human mutation.

Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects

Thierry Soussi, Eivind Hovig, P. Hainaut, 1997, Nucleic Acids Res..

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

S. Brenner, P. Radivojac, S. Mooney, 2022, bioRxiv.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

M. Genuardi, M. Greenblatt, R. Sijmons, 2013, Familial Cancer.

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association

J. Bond, M. Greenblatt, Ramiro Barrantes-Reynolds, 2004, Human mutation.

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Rolf H. Sijmons, Amanda B. Spurdle, Sean V. Tavtigian, 2018, Genetics in Medicine.

Sequence Variants of Uncertain Significance: What to Do When Genetic Test Results Are Not Definitive.

M. Greenblatt, 2015, Surgical oncology clinics of North America.

Recommendations for locus‐specific databases and their curation

M. Vihinen, J. Beckmann, A. Brookes, 2008 .

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

Paolo Boffetta, S. Tavtigian, P. Boffetta, 2008, Human mutation.

Locus‐specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

A. Spurdle, W. Foulkes, M. Olivier, 2008, Human mutation.

Deletions and insertions in the p53 tumor suppressor gene in human cancers: confirmation of the DNA polymerase slippage/misalignment model.

C. Harris, M. Greenblatt, A. Grollman, 1996, Cancer research.

Mutations in the p 53 Tumor Suppressor Gene : Clues to Cancer Etiology and Molecular

C. Harris, M. Hollstein, M. Greenblatt, 2006 .

Molecular genetics of lung cancer.

C. Harris, M. Greenblatt, 1995, Cancer surveys.

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

B. Fernandez, D. Huntsman, P. Pharoah, 2007, JAMA.

Classifying variants of CDKN2A using computational and laboratory studies

Sekhar Duraisamy, J. Bond, M. Greenblatt, 2011, Human mutation.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, Journal of clinical medicine.

Somatic point mutations in the p53 gene of human tumors and cell lines: updated compilation

Thierry Soussi, Eivind Hovig, M. Hollstein, 1996, Nucleic Acids Res..

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

A. de la Chapelle, C. Sutter, P. Peltomäki, 2005, Gastroenterology.

Clinically Relevant Variants – Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

S. Sunyaev, M. Greenblatt, C. Stanley, 2014, Human mutation.

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

U. Ladabaum, R. Ward, M. Ligtenberg, 2013, European Journal of Human Genetics.

p53 tumor suppressor gene: implications for iatrogenic cancer and cancer therapy.

C. Harris, M. Greenblatt, W. Bennett, 1996, Medical and pediatric oncology. Supplement.

The Familial Cancer Program of the Vermont Cancer Center: Development of a Cancer Genetics Program in a Rural Area

A. Guttmacher, M. Greenblatt, D. Yandell, 1997, Journal of Genetic Counseling.

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework

R. Nussbaum, Snehit Prabhu, L. Biesecker, 2018, Genetics in Medicine.

Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli

A. Lazar, M. Bosenberg, M. Greenblatt, 2012, Journal of cutaneous pathology.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition.

D. Cheo, J. Bond, M. Greenblatt, 2000, Mutation research.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

M. Greenblatt, C. Koliba, W. McKinnon, 2016, Digestive Diseases and Sciences.

Spindle Microtubule Dysfunction and Cancer Predisposition

M. Greenblatt, P. Ghule, J. Stein, 2014, Journal of cellular physiology.

Clarity and claims in variation/mutation databasing

J. Beckmann, A. Brookes, A. Cambon-Thomsen, 2011, Nature Biotechnology.

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

A. Spurdle, C. Paterson, B. Thompson, 2012, Hereditary Cancer in Clinical Practice.

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification

M. Greenblatt, S. Ollila, M. Nyström, 2008, International journal of cancer.

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

A. de la Chapelle, P. Peltomäki, M. Greenblatt, 2006, Gastroenterology.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice.

D. Cheo, J. Bond, M. Greenblatt, 2000, Cancer research.

Genotype-specific Trp 53 Mutational Analysis in Ultraviolet B Radiation-induced Skin Cancers in Xpc and Xpc Trp 53 Mutant Mice 1

D. Cheo, J. Bond, M. Greenblatt, 2000 .

The Human Variome Project

Sue Povey, Johan T den Dunnen, Anthony J Brookes, 2008, Science.

p16INK4 mutations and altered expression in human tumors and cell lines.

A. Okamoto, D. Demetrick, M. Serrano, 1994, Cold Spring Harbor symposia on quantitative biology.

Phase I/II Trial of Paclitaxel and Vinorelbine in Advanced Non-Small Cell Lung Cancer

M. Greenblatt, S. Grunberg, J. Valentine, 2005, Cancer investigation.

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

L. Rasmussen, A. Spurdle, J. Osinga, 2018, Genetics in Medicine.

Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review.

M. Bosenberg, M. Greenblatt, W. McKinnon, 2012, Human pathology.

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2023, EClinicalMedicine.

An intelligent digital library system for biologists

Xindong Wu, Jeffrey Stone, Marc Greenblatt, 2004, Proceedings. 2004 IEEE Computational Systems Bioinformatics Conference, 2004. CSB 2004..

SARS-CoV-2 hijacks host cell genome instability pathways

R. Holcombe, M. Greenblatt, Justin J. Frere, 2022, Research square.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

A Semantic Network for Modeling Biological Knowledge in Multiple Databases

Xindong Wu, Jeffrey Stone, Marc Greenblatt, 2015, Communications of the IIMA.

Factor V Leiden, prothrombin 20210A and the risk of venous thrombosis among cancer patients

M. Cushman, M. Greenblatt, Hongyu Jiang, 2005, British journal of haematology.

Germ LineMutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer : International Society for Gastrointestinal HereditaryTumours Collaborative Study

J. Burn, M. Greenblatt, L. Schofield, 2006 .

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

p53 tumor suppressor gene: implications for iatrogenic cancer and cancer therapy.

M. Greenblatt, W. Bennett, V. D. Benedetti, 1996, Medical and pediatric oncology. Supplement.

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Andrea Rakushin Lee, N. de Wind, L. Rasmussen, 2020, Genetics in Medicine.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Reece K. Hart, D. Maglott, S. Antonarakis, 2016, Human mutation.

thrombosis among cancer patients

M. Cushman, M. Greenblatt, Cheung Wong, 2005 .

In silico analysis of missense substitutions using sequence‐alignment based methods

S. Tavtigian, G. Byrnes, M. Greenblatt, 2008, Human mutation.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

Phase I/II Trial of Paclitaxel and Vinorelbine in Advanced Non-Small Cell Lung Cancer

M. Greenblatt, S. Grunberg, J. Valentine, 2005, Cancer investigation.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

P. Radivojac, S. Mooney, S. Sunyaev, 2013, Human mutation.