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Genetic epidemiology

  • Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
    Daniel N. Frank, Arnaud P. J. Giese, Lena Hafren, Tori C. Bootpetch, Talitha Karisse L. Yarza, Matthew J. Steritz, Melquiadesa Pedro, Patrick John Labra, Kathleen A. Daly, Ma. Leah C. Tantoco, Wasyl Szeremeta, Maria Rina T. Reyes-Quintos, Niaz Ahankoob, Erasmo Gonzalo d.V. Llanes, Harold S. Pine, Sairah Yousaf, Diana Ir, Elisabet Einarsdottir, Rhodieleen Anne R. de la Cruz, Nanette R. Lee, Rachelle Marie A. Nonato, Charles E. Robertson, Kimberly Mae C. Ong, Jose Pedrito M. Magno, Alessandra Nadine E. Chiong, Ma. Carmina Espiritu-Chiong, Maria Luz San Agustin, Teresa Luisa G. Cruz, Generoso T. Abes, Michael J. Bamshad, Eva Maria Cutiongco-de la Paz, Juha Kere, Deborah A. Nickerson, Karen L. Mohlke, Saima Riazuddin, Abner Chan, Petri S. Mattila, Suzanne M. Leal, Allen F. Ryan, Zubair M. Ahmed, Tasnee Chonmaitree, Michele M. Sale, Charlotte M. Chiong, Regie Lyn P. Santos-Cortez
    Journal of Medical Genetics Jul 2021, 58 (7) 442-452; DOI: 10.1136/jmedgenet-2020-106844
  • Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis
    Hansong Lee, Seongdo Jeong, Yeuni Yu, Junho Kang, Hokeun Sun, Je-Keun Rhee, Yun Hak Kim
    Journal of Medical Genetics Apr 2020, 57 (4) 217-225; DOI: 10.1136/jmedgenet-2019-106324
  • Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
    Alice Alessandra Galeotti, Manuel Gentiluomo, Cosmeri Rizzato, Ofure Obazee, John P Neoptolemos, Claudio Pasquali, Michael Nentwich, Giulia Martina Cavestro, Raffaele Pezzilli, William Greenhalf, Bernd Holleczek, Cornelia Schroeder, Ben Schöttker, Audrius Ivanauskas, Laura Ginocchi, Timothy J Key, Péter Hegyi, Livia Archibugi, Erika Darvasi, Daniela Basso, Cosimo Sperti, Maarten F Bijlsma, Orazio Palmieri, Viktor Hlavac, Renata Talar-Wojnarowska, Beatrice Mohelnikova-Duchonova, Thilo Hackert, Yogesh Vashist, Ondrej Strouhal, Hanneke van Laarhoven, Francesca Tavano, Martin Lovecek, Christos Dervenis, Ferenc Izbéki, Andrea Padoan, Ewa Małecka-Panas, Evaristo Maiello, Giuseppe Vanella, Gabriele Capurso, Jakob R Izbicki, George E Theodoropoulos, Krzysztof Jamroziak, Verena Katzke, Rudolf Kaaks, Andrea Mambrini, Ioannis S Papanikolaou, Richárd Szmola, Andrea Szentesi, Juozas Kupcinskas, Simona Bursi, Eithne Costello, Ugo Boggi, Anna Caterina Milanetto, Stefano Landi, Maria Gazouli, Ludmila Vodickova, Pavel Soucek, Domenica Gioffreda, Federica Gemignani, Hermann Brenner, Oliver Strobel, Markus Büchler, Pavel Vodicka, Salvatore Paiella, Federico Canzian, Daniele Campa
    Journal of Medical Genetics Jun 2021, 58 (6) 369-377; DOI: 10.1136/jmedgenet-2020-106961
  • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
    Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
    Journal of Medical Genetics May 2021, 58 (5) 305-313; DOI: 10.1136/jmedgenet-2019-106739
  • Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
    Chantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie
    Journal of Medical Genetics Nov 2020, 57 (11) 725-732; DOI: 10.1136/jmedgenet-2019-106763
  • Association between genetic polymorphisms and endometrial cancer risk: a systematic review
    Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie
    Journal of Medical Genetics Sep 2020, 57 (9) 591-600; DOI: 10.1136/jmedgenet-2019-106529
  • CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
    Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis, Veronica Höiom, Håkan Olsson, Remco van Doorn, Hans F A Vasen, Christi J van Asperen, Olaf M Dekkers, Frederik J Hes
    Journal of Medical Genetics Oct 2018, 55 (10) 661-668; DOI: 10.1136/jmedgenet-2017-105205
  • Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
    Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher
    Journal of Medical Genetics Jun 2018, 55 (6) 384-394; DOI: 10.1136/jmedgenet-2017-105127
  • Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
    Yoshito Koyanagi, Masato Akiyama, Koji M Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh-Hei Sonoda
    Journal of Medical Genetics Oct 2019, 56 (10) 662-670; DOI: 10.1136/jmedgenet-2018-105691
  • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families
    Inge M M Lakeman, Florentine S Hilbers, Mar Rodríguez-Girondo, Andrew Lee, Maaike P G Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers-Heijboer, Jan C Oosterwijk, Nicoline Hoogerbrugge, Edith Olah, Hans F A Vasen, Christi J van Asperen, Peter Devilee
    Journal of Medical Genetics Sep 2019, 56 (9) 581-589; DOI: 10.1136/jmedgenet-2019-106072

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