Journal of Medical Genetics

  • Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
    Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca
  • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    Agostina Stradella, Jesús del Valle, Paula Rofes, Lídia Feliubadaló, Èlia Grau Garces, Àngela Velasco, Sara González, Gardenia Vargas, Ángel Izquierdo, Olga Campos, Eva Tornero, Matilde Navarro, Judith Balmaña-Gelpi, Gabriel Capellá, Marta Pineda, Joan Brunet, Conxi Lázaro
  • Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
    Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie-Pierre Cordier, Christine Coubes, Benedicte Demeer, Annabelle Chaussenot, Florence Demurger, Françoise Devillard, Martine Doco-Fenzy, Céline Dupont, Jean-Michel Dupont, Sophie Dupuis-Girod, Laurence Faivre, Brigitte Gilbert-Dussardier, Anne-Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly-Hélas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaetan Lesca, James Lespinasse, Jonathan Levy, Valérie Malan, Michele Mathieu-Dramard, Julie Masson, Alice Masurel-Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice-Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel-Richard, Sylvie Odent, Véronique Paquis-Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie-France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck-Thambo, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean-Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérome Toutain, Stéphanie Valence, Alain Verloes, Sandra Whalen, Patrick Edery, Anne-Claude Tabet, Damien Sanlaville
  • Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African–American youth
    Dongnhu Thuy Truong, Andrew Kenneth Adams, Steven Paniagua, Jan C Frijters, Richard Boada, Dina E Hill, Maureen W Lovett, E Mark Mahone, Erik G Willcutt, Maryanne Wolf, John C Defries, Alessandro Gialluisi, Clyde Francks, Simon E Fisher, Richard K Olson, Bruce F Pennington, Shelley D Smith, Joan Bosson-Heenan, Jeffrey R Gruen
  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
    Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A Wise, Ina Amarillo, Nephi Walton, Mark Seeley, Darren Johnson, Conner Jenkins, Troy Jenkins, Matthew Oetjens, R Spencer Tong, Todd E Druley, Matthew B Dobbs, Christina A Gurnett
  • Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development
    Katie Ayers, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, Karen Rothacker, Catherine Choong, Sultana M H Faradz, Andrew Sinclair
  • NAA10 polyadenylation signal variants cause syndromic microphthalmia
    Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Heather M Chapman, David N Cooper, Tabib Dabir, Jeffrey N Dudley, Richard J Holt, Nicola K Ragge, Alejandro A Schäffer, Shurjo K Sen, Anne M Slavotinek, David R FitzPatrick, Thomas M Glaser, Fiona Stewart, Graeme CM Black, Leslie G Biesecker
  • Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
    Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kConFab Investigators, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya
  • Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
    Pau Puigdevall, Lucilla Piccari, Isabel Blanco, Joan Albert Barberà, Dan Geiger, Celia Badenas, Montserrat Milà, Robert Castelo, Irene Madrigal
  • Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
    Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike PG Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles

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