You are here

CLINICAL

  • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
    Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Australian Ovarian Cancer Study Group, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul DP Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
    Journal of Medical Genetics Dec 2016, 53 (12) 800-811; DOI: 10.1136/jmedgenet-2016-103839
  • Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations
    Laetitia Goffinet, Abderrahim Oussalah, Rosa-Maria Guéant-Rodriguez, Céline Chery, Mirta Basha, Patrice Hodonou Avogbe, Thomas Josse, Elise Jeannesson, Pierre Rouyer, Justine Flayac, Philippe Gerard, Anne Le Touze, Béatrice Bonin-Goga, Dominique Goga, Etienne Simon, François Feillet, Miikka Vikkula, Jean-Louis Guéant
    Journal of Medical Genetics Dec 2016, 53 (12) 828-834; DOI: 10.1136/jmedgenet-2016-104111
  • Meta-analysis of genome-wide association studies of HDL cholesterol response to statins
    Iris Postmus, Helen R Warren, Stella Trompet, Benoit J Arsenault, Christy L Avery, Joshua C Bis, Daniel I Chasman, Catherine E de Keyser, Harshal A Deshmukh, Daniel S Evans, QiPing Feng, Xiaohui Li, Roelof A J Smit, Albert V Smith, Fangui Sun, Kent D Taylor, Alice M Arnold, Michael R Barnes, Bryan J Barratt, John Betteridge, S Matthijs Boekholdt, Eric Boerwinkle, Brendan M Buckley, Y-D Ida Chen, Anton J M de Craen, Steven R Cummings, Joshua C Denny, Marie Pierre Dubé, Paul N Durrington, Gudny Eiriksdottir, Ian Ford, Xiuqing Guo, Tamara B Harris, Susan R Heckbert, Albert Hofman, G Kees Hovingh, John J P Kastelein, Leonore J Launer, Ching-Ti Liu, Yongmei Liu, Thomas Lumley, Paul M McKeigue, Patricia B Munroe, Andrew Neil, Deborah A Nickerson, Fredrik Nyberg, Eoin O'Brien, Christopher J O'Donnell, Wendy Post, Neil Poulter, Ramachandran S Vasan, Kenneth Rice, Stephen S Rich, Fernando Rivadeneira, Naveed Sattar, Peter Sever, Sue Shaw-Hawkins, Denis C Shields, P Eline Slagboom, Nicholas L Smith, Joshua D Smith, Nona Sotoodehnia, Alice Stanton, David J Stott, Bruno H Stricker, Til Stürmer, André G Uitterlinden, Wei-Qi Wei, Rudi G J Westendorp, Eric A Whitsel, Kerri L Wiggins, Russell A Wilke, Christie M Ballantyne, Helen M Colhoun, L Adrienne Cupples, Oscar H Franco, Vilmundur Gudnason, Graham Hitman, Colin N A Palmer, Bruce M Psaty, Paul M Ridker, Jeanette M Stafford, Charles M Stein, Jean-Claude Tardif, Mark J Caulfield, J Wouter Jukema, Jerome I Rotter, Ronald M Krauss
    Journal of Medical Genetics Dec 2016, 53 (12) 835-845; DOI: 10.1136/jmedgenet-2016-103966
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
    Journal of Medical Genetics Dec 2016, 53 (12) 850-858; DOI: 10.1136/jmedgenet-2016-103909
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
    Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales
    Journal of Medical Genetics Mar 2015, 52 (3) 147-156; DOI: 10.1136/jmedgenet-2014-102691
  • Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function
    X Cao, K W Eu, M P Kumarasinghe, H H Li, C Loi, P Y Cheah
    Journal of Medical Genetics Mar 2006, 43 (3) e13; DOI: 10.1136/jmg.2005.034827
  • Screening families with endometrial and colorectal cancers for germline mutations
    Tao Liu, Jindong Chen, Sima Salahshor, Shannon Kuismanen, Eva Holmberg, Henrik Grönberg, Päivi Peltomäki, Annika Lindblom
    Journal of Medical Genetics Sep 2001, 38 (9) e29; DOI: 10.1136/jmg.38.9.e29
  • CTNND2—a candidate gene for reading problems and mild intellectual disability
    Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand
    Journal of Medical Genetics Feb 2015, 52 (2) 111-122; DOI: 10.1136/jmedgenet-2014-102757
  • Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
    Wenche Sjursen, Bjørn Ivar Haukanes, Eli Marie Grindedal, Harald Aarset, Astrid Stormorken, Lars F Engebretsen, Christoffer Jonsrud, Inga Bjørnevoll, Per Arne Andresen, Sarah Ariansen, Liss Anne S Lavik, Bodil Gilde, Inger Marie Bowitz-Lothe, Lovise Mæhle, Pål Møller
    Journal of Medical Genetics Sep 2010, 47 (9) 579-585; DOI: 10.1136/jmg.2010.077677
  • A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
    N V Morgan, C Bacchelli, P Gissen, J Morton, G B Ferrero, M Silengo, P Labrune, I Casteels, C Hall, P Cox, D A Kelly, R C Trembath, P J Scambler, E R Maher, F R Goodman, C A Johnson
    Journal of Medical Genetics Jun 2003, 40 (6) 431-435; DOI: 10.1136/jmg.40.6.431

Pages