Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw, Kristen Shannon, Evangelos S Gragoudas, Anne Marie Lane, Vivek Iyer, Julia A Newton-Bishop, D Timothy Bishop, Elizabeth A Holland, Graham J Mann, Tarjinder Singh, Mark J Daly, Hensin Tsao. J Natl Cancer Inst 2017
Times Cited: 15
Times Cited: 15
Times Cited
Times Co-cited
Similarity
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Satoru Yokoyama, Susan L Woods, Glen M Boyle, Lauren G Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E Cust, Rizwan Haq, Mark Harland,[...]. Nature 2011
Satoru Yokoyama, Susan L Woods, Glen M Boyle, Lauren G Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E Cust, Rizwan Haq, Mark Harland,[...]. Nature 2011
46
Pathogenic Germline Variants in 10,389 Adult Cancers.
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak,[...]. Cell 2018
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak,[...]. Cell 2018
46
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano, Thomas Strub, Mahaut de Lichy, Karine Bille, Philippe Dessen, Benoit d'Hayer, Hamida Mohamdi, Audrey Remenieras,[...]. Nature 2011
Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano, Thomas Strub, Mahaut de Lichy, Karine Bille, Philippe Dessen, Benoit d'Hayer, Hamida Mohamdi, Audrey Remenieras,[...]. Nature 2011
40
Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
40
A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.
Craig C Teerlink, Chad Huff, Jeff Stevens, Yao Yu, Sheri L Holmen, Mark R Silvis, Kirby Trombetti, Hua Zhao, Douglas Grossman, James M Farnham,[...]. J Natl Cancer Inst 2018
Craig C Teerlink, Chad Huff, Jeff Stevens, Yao Yu, Sheri L Holmen, Mark R Silvis, Kirby Trombetti, Hua Zhao, Douglas Grossman, James M Farnham,[...]. J Natl Cancer Inst 2018
40
Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
33
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael Gartside, Víctor Quesada, Peter Johansson, Jane M Palmer,[...]. J Natl Cancer Inst 2014
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael Gartside, Víctor Quesada, Peter Johansson, Jane M Palmer,[...]. J Natl Cancer Inst 2014
33
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Thomas P Potjer, Sander Bollen, Anneliese J E M Grimbergen, Remco van Doorn, Nelleke A Gruis, Christi J van Asperen, Frederik J Hes, Nienke van der Stoep. Int J Cancer 2019
Thomas P Potjer, Sander Bollen, Anneliese J E M Grimbergen, Remco van Doorn, Nelleke A Gruis, Christi J van Asperen, Frederik J Hes, Nienke van der Stoep. Int J Cancer 2019
33
POT1 loss-of-function variants predispose to familial melanoma.
Carla Daniela Robles-Espinoza, Mark Harland, Andrew J Ramsay, Lauren G Aoude, Víctor Quesada, Zhihao Ding, Karen A Pooley, Antonia L Pritchard, Jessamy C Tiffen, Mia Petljak,[...]. Nat Genet 2014
Carla Daniela Robles-Espinoza, Mark Harland, Andrew J Ramsay, Lauren G Aoude, Víctor Quesada, Zhihao Ding, Karen A Pooley, Antonia L Pritchard, Jessamy C Tiffen, Mia Petljak,[...]. Nat Genet 2014
33
POLE mutations in families predisposed to cutaneous melanoma.
Lauren G Aoude, Ellen Heitzer, Peter Johansson, Michael Gartside, Karin Wadt, Antonia L Pritchard, Jane M Palmer, Judith Symmons, Anne-Marie Gerdes, Grant W Montgomery,[...]. Fam Cancer 2015
Lauren G Aoude, Ellen Heitzer, Peter Johansson, Michael Gartside, Karin Wadt, Antonia L Pritchard, Jane M Palmer, Judith Symmons, Anne-Marie Gerdes, Grant W Montgomery,[...]. Fam Cancer 2015
33
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril,[...]. Nat Genet 2014
Jianxin Shi, Xiaohong R Yang, Bari Ballew, Melissa Rotunno, Donato Calista, Maria Concetta Fargnoli, Paola Ghiorzo, Brigitte Bressac-de Paillerets, Eduardo Nagore, Marie Francoise Avril,[...]. Nat Genet 2014
33
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
Miriam Potrony, Joan Anton Puig-Butille, Paula Aguilera, Celia Badenas, Gemma Tell-Marti, Cristina Carrera, Luis Javier Del Pozo, Julian Conejo-Mir, Josep Malvehy, Susana Puig. JAMA Dermatol 2016
Miriam Potrony, Joan Anton Puig-Butille, Paula Aguilera, Celia Badenas, Gemma Tell-Marti, Cristina Carrera, Luis Javier Del Pozo, Julian Conejo-Mir, Josep Malvehy, Susana Puig. JAMA Dermatol 2016
26
The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
26
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
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Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
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26
Update in genetic susceptibility in melanoma.
Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig. Ann Transl Med 2015
Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig. Ann Transl Med 2015
26
TERT promoter mutations in familial and sporadic melanoma.
Susanne Horn, Adina Figl, P Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki,[...]. Science 2013
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26
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Alisa M Goldstein, Yanzi Xiao, Joshua Sampson, Bin Zhu, Melissa Rotunno, Hunter Bennett, Yixuan Wen, Kristine Jones, Aurelie Vogt, Laurie Burdette,[...]. Hum Mol Genet 2017
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26
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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26
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
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Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno,[...]. J Med Genet 2007
20
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
L Zuo, J Weger, Q Yang, A M Goldstein, M A Tucker, G J Walker, N Hayward, N C Dracopoli. Nat Genet 1996
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20
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Alisa M Goldstein, May Chan, Mark Harland, Elizabeth M Gillanders, Nicholas K Hayward, Marie-Francoise Avril, Esther Azizi, Giovanna Bianchi-Scarra, D Timothy Bishop, Brigitte Bressac-de Paillerets,[...]. Cancer Res 2006
Alisa M Goldstein, May Chan, Mark Harland, Elizabeth M Gillanders, Nicholas K Hayward, Marie-Francoise Avril, Esther Azizi, Giovanna Bianchi-Scarra, D Timothy Bishop, Brigitte Bressac-de Paillerets,[...]. Cancer Res 2006
20
Germline p16 mutations in familial melanoma.
C J Hussussian, J P Struewing, A M Goldstein, P A Higgins, D S Ally, M D Sheahan, W H Clark, M A Tucker, N C Dracopoli. Nat Genet 1994
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Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.
Lorelei A Mucci, Jacob B Hjelmborg, Jennifer R Harris, Kamila Czene, David J Havelick, Thomas Scheike, Rebecca E Graff, Klaus Holst, Sören Möller, Robert H Unger,[...]. JAMA 2016
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20
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo,[...]. J Med Genet 2013
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20
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
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20
dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
20
A groupwise association test for rare mutations using a weighted sum statistic.
Bo Eskerod Madsen, Sharon R Browning. PLoS Genet 2009
Bo Eskerod Madsen, Sharon R Browning. PLoS Genet 2009
20
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Antonia L Pritchard, Peter A Johansson, Vaishnavi Nathan, Madeleine Howlie, Judith Symmons, Jane M Palmer, Nicholas K Hayward. PLoS One 2018
Antonia L Pritchard, Peter A Johansson, Vaishnavi Nathan, Madeleine Howlie, Judith Symmons, Jane M Palmer, Nicholas K Hayward. PLoS One 2018
25
Genetics of familial melanoma: 20 years after CDKN2A.
Lauren G Aoude, Karin A W Wadt, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2015
Lauren G Aoude, Karin A W Wadt, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2015
20
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Vaishnavi Nathan, Peter A Johansson, Jane M Palmer, Madeleine Howlie, Hayley R Hamilton, Karin Wadt, Göran Jönsson, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2019
Vaishnavi Nathan, Peter A Johansson, Jane M Palmer, Madeleine Howlie, Hayley R Hamilton, Karin Wadt, Göran Jönsson, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2019
27
Finding the missing heritability of complex diseases.
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
20
Identification, genetic testing, and management of hereditary melanoma.
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo. Cancer Metastasis Rev 2017
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo. Cancer Metastasis Rev 2017
20
Germline mutations in shelterin complex genes are associated with familial glioma.
Matthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, Alison A Bertuch, Shalini N Jhangiani, Harsha Doddapaneni, Lora Lewis, Joseph Tombrello, Spyros Tsavachidis, Yanhong Liu,[...]. J Natl Cancer Inst 2014
Matthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, Alison A Bertuch, Shalini N Jhangiani, Harsha Doddapaneni, Lora Lewis, Joseph Tombrello, Spyros Tsavachidis, Yanhong Liu,[...]. J Natl Cancer Inst 2014
20
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet,[...]. J Natl Cancer Inst 2018
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet,[...]. J Natl Cancer Inst 2018
20
NEK11 as a candidate high-penetrance melanoma susceptibility gene.
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis. J Med Genet 2020
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis. J Med Genet 2020
50
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Daniel Chubb, Peter Broderick, Sara E Dobbins, Matthew Frampton, Ben Kinnersley, Steven Penegar, Amy Price, Yussanne P Ma, Amy L Sherborne, Claire Palles,[...]. Nat Commun 2016
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20
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
20
Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes.
Yao Yu, Hao Hu, Jiun-Sheng Chen, Fulan Hu, Jerry Fowler, Paul Scheet, Hua Zhao, Chad D Huff. Biochim Biophys Acta Mol Basis Dis 2018
Yao Yu, Hao Hu, Jiun-Sheng Chen, Fulan Hu, Jerry Fowler, Paul Scheet, Hua Zhao, Chad D Huff. Biochim Biophys Acta Mol Basis Dis 2018
37
Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden.
Patricia F Williams, Catherine M Olsen, Nicholas K Hayward, David C Whiteman. Int J Cancer 2011
Patricia F Williams, Catherine M Olsen, Nicholas K Hayward, David C Whiteman. Int J Cancer 2011
13
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Susana Puig, Miriam Potrony, Francisco Cuellar, Joan Anton Puig-Butille, Cristina Carrera, Paula Aguilera, Eduardo Nagore, Zaida Garcia-Casado, Celia Requena, Rajiv Kumar,[...]. Genet Med 2016
Susana Puig, Miriam Potrony, Francisco Cuellar, Joan Anton Puig-Butille, Cristina Carrera, Paula Aguilera, Eduardo Nagore, Zaida Garcia-Casado, Celia Requena, Rajiv Kumar,[...]. Genet Med 2016
13
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus.
A Kamb, D Shattuck-Eidens, R Eeles, Q Liu, N A Gruis, W Ding, C Hussey, T Tran, Y Miki, J Weaver-Feldhaus. Nat Genet 1994
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13
MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis.
Maria Concetta Fargnoli, Sara Gandini, Ketty Peris, Patrick Maisonneuve, Sara Raimondi. Eur J Cancer 2010
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13
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.
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13
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
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13
Genome-wide association studies of cancer: current insights and future perspectives.
Amit Sud, Ben Kinnersley, Richard S Houlston. Nat Rev Cancer 2017
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13
Germline Mutations in Predisposition Genes in Pediatric Cancer.
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Principal components analysis corrects for stratification in genome-wide association studies.
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13
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.