Molecular genetics

  • A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
    Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher
  • A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome
    Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
  • CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
    Alicia Semaka, Chris Kay, Crystal Doty, Jennifer A Collins, Emilia K Bijlsma, Fiona Richards, Y Paul Goldberg, Michael R Hayden
  • Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
    B Y Choi, A C Madeo, K A King, C K Zalewski, S P Pryor, J A Muskett, W E Nance, J A Butman, C C Brewer, A J Griffith
  • MicroRNA-129-1 acts as tumour suppressor and induces cell cycle arrest of GBM cancer cells through targeting IGF2BP3 and MAPK1
    Fatemeh Kouhkan, Naser Mobarra, Mina Soufi-Zomorrod, Farid Keramati, Seyed Mohammad Ali Hosseini Rad, Mehrnoosh Fathi-Roudsari, Rezvan Tavakoli, Athena Hajarizadeh, Said Ziaei, Reyhaneh Lahmi, Hamed Hanif, Masoud Soleimani
  • HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
    Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron
  • Friedreich ataxia: an overview
    Martin B Delatycki, Robert Williamson, Susan M Forrest
  • Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion
    Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Yuji Nakamura, Daisuke Fukushi, Kei Murayama, Yoshiharu Shimomura, James Pitt, Seiji Yamaguchi, Kenji Yokochi, Nobuaki Wakamatsu
  • Phenotypic spectrum associated with CASK loss-of-function mutations
    Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B Dobyns, Gökhan Uyanik
  • 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

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