Molecular genetics

  • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
    Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, Nathalie Forey, Robert N Luben, Shahana Ahmed, Kristiina Aittomäki, Hoda Anton-Culver, Volker Arndt, Australian Ovarian Cancer Study Group, Caroline Baynes, Matthias W Beckman, Javier Benitez, David Van Den Berg, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jenny Chang-Claude, Kee Seng Chia, Ji-Yeob Choi, Don M Conroy, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Peter Devilee, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Florentia Fostira, Montserrat García-Closas, Graham G Giles, Gord Glendon, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Steven N Hart, Mikael Hartman, Maartje J Hooning, Chia-Ni Hsiung, Hidemi Ito, Anna Jakubowska, Paul A James, Esther M John, Nichola Johnson, Michael Jones, Maria Kabisch, Daehee Kang, kConFab Investigators, Veli-Matti Kosma, Vessela Kristensen, Diether Lambrechts, Na Li, Lifepool Investigators, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Alfons Meindl, Gillian Mitchell, Kenneth Muir, NBCS Investigators, Ines Nevelsteen, Ans van den Ouweland, Paolo Peterlongo, Sze Yee Phuah, Katri Pylkäs, Simone M Rowley, Suleeporn Sangrajrang, Rita K Schmutzler, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Harald Surowy, Anthony Swerdlow, Soo H Teo, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Senno Verhoef, Michelle Wong-Brown, Wei Zheng, Ying Zheng, Heli Nevanlinna, Rodney J Scott, Irene L Andrulis, Anna H Wu, John L Hopper, Fergus J Couch, Robert Winqvist, Barbara Burwinkel, Elinor J Sawyer, Marjanka K Schmidt, Anja Rudolph, Thilo Dörk, Hiltrud Brauch, Ute Hamann, Susan L Neuhausen, Roger L Milne, Olivia Fletcher, Paul D P Pharoah, Ian G Campbell, Alison M Dunning, Florence Le Calvez-Kelm, David E Goldgar, Sean V Tavtigian, Georgia Chenevix-Trench
  • Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
    Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi
  • Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
    Patrizia Calandra, Isabella Cascino, Richard J L F Lemmers, Giuliana Galluzzi, Emanuela Teveroni, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Fabiola Moretti, Silvère M van der Maarel, Giancarlo Deidda
  • Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape
    Shanmugarajah Rajendra, Bin Wang, Neil Merrett, Prateek Sharma, Jeremy Humphris, Hong Ching Lee, Jianmin Wu
  • Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population
    Abeer Al Tuwaijri, Valérie Gagné-Ouellet, Anne-Marie Madore, Catherine Laprise, Anna K Naumova
  • Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
    Michele Lai, Massimo Pifferi, Andrew Bush, Martina Piras, Angela Michelucci, Maria Di Cicco, Ambra del Grosso, Paola Quaranta, Chiara Cursi, Elena Tantillo, Sara Franceschi, Maria Chiara Mazzanti, Paolo Simi, Giuseppe Saggese, Attilio Boner, Mauro Pistello
  • Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
    Johannes Koch, René G Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A Mayr, Holger Prokisch, Tobias B Haack
  • A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height
    Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Mika Kivimaki, Meena Kumari, Richard M Martin, Alison Pattie, Avan Aihie Sayer, John M Starr, Andrew Wong, Diana Kuh, Santiago Rodriguez, Ian N M Day
  • The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles
    Natalie R Powers, John D Eicher, Laura L Miller, Yong Kong, Shelley D Smith, Bruce F Pennington, Erik G Willcutt, Richard K Olson, Susan M Ring, Jeffrey R Gruen
  • Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
    Markus Schueler, Jan Halbritter, Ian G Phelps, Daniela A Braun, Edgar A Otto, Jonathan D Porath, Heon Yung Gee, Jay Shendure, Brian J O'Roak, Jennifer A Lawson, Marwa M Nabhan, Neveen A Soliman, Dan Doherty, Friedhelm Hildebrandt

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