Online First

July 14, 2018

  • Phenotypes
    Retrospective natural history of thymidine kinase 2 deficiency
    Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
  • Epigenetics
    Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
    Kit San Yeung, Matthew Sai Pong Ho, So Lun Lee, Anita Sik Yau Kan, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Po Lam So, Rolph Pfundt, Christian R Marshall, Stephen W Scherer, Sanaa Choufani, Rosanna Weksberg, Brian Hon-Yin Chung

July 11, 2018

July 09, 2018

July 03, 2018

July 02, 2018

June 29, 2018

June 06, 2018

May 22, 2018

May 18, 2018

May 15, 2018

  • Neurogenetics
    Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy
    Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel

May 05, 2018

April 27, 2018

April 17, 2018

April 16, 2018

April 09, 2018

April 05, 2018

April 04, 2018

March 29, 2018

March 17, 2018

March 13, 2018

January 13, 2018

January 12, 2018

  • Cancer genetics
    Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
    Robbert D A Weren, Rachel S van der Post, Ingrid P Vogelaar, J Han van Krieken, Liesbeth Spruijt, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Carla Oliveira, Eveline J Kamping, Hans K Schackert, Guglielmina N Ranzani, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg

September 02, 2017