Editor's choice

CTCF deletion syndrome: clinical features and epigenetic delineation

Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh

10.1136/jmedgenet-2017-104854

August 28, 2017

FOXP1-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy JL de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert

10.1136/jmedgenet-2017-104579

July 22, 2017

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

10.1136/jmedgenet-2016-104436

March 13, 2017

A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium

Raymond Noordam, Colleen M Sitlani, Christy L Avery, James D Stewart, Stephanie M Gogarten, Kerri L Wiggins, Stella Trompet, Helen R Warren, Fangui Sun, Daniel S Evans, Xiaohui Li, Jin Li, Albert V Smith, Joshua C Bis, Jennifer A Brody, Evan L Busch, Mark J Caulfield, Yii-Der I Chen, Steven R Cummings, L Adrienne Cupples, Qing Duan, Oscar H Franco, Rául Méndez-Giráldez, Tamara B Harris, Susan R Heckbert, Diana van Heemst, Albert Hofman, James S Floyd, Jan A Kors, Lenore J Launer, Yun Li, Ruifang Li-Gao, Leslie A Lange, Henry J Lin, Renée de Mutsert, Melanie D Napier, Christopher Newton-Cheh, Neil Poulter, Alexander P Reiner, Kenneth M Rice, Jeffrey Roach, Carlos J Rodriguez, Frits R Rosendaal, Naveed Sattar, Peter Sever, Amanda A Seyerle, P Eline Slagboom, Elsayed Z Soliman, Nona Sotoodehnia, David J Stott, Til Stürmer, Kent D Taylor, Timothy A Thornton, André G Uitterlinden, Kirk C Wilhelmsen, James G Wilson, Vilmundur Gudnason, J Wouter Jukema, Cathy C Laurie, Yongmei Liu, Dennis O Mook-Kanamori, Patricia B Munroe, Jerome I Rotter, Ramachandran S Vasan, Bruce M Psaty, Bruno H Stricker, Eric A Whitsel

10.1136/jmedgenet-2016-104112

December 30, 2016

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato

10.1136/jmedgenet-2016-103985

October 13, 2016