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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Derralynn A Hughes, Kathleen Nicholls, Suma P Shankar, Gere Sunder-Plassmann, David Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P Germain, Ozlem Goker-Alpan, Eric Hachulla, Ana Jovanovic, Charles M Lourenco, Ichiei Narita, Mark Thomas, William R Wilcox, Daniel G Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin Johnson, Pol Boudes, Elfrida R Benjamin, David J Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P Castelli, Jay Barth, Ulla Feldt-Rasmussen

10.1136/jmedgenet-2016-104178

November 10, 2016

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie

10.1136/jmedgenet-2016-104215

November 24, 2016

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman

10.1136/jmedgenet-2016-104200

April 25, 2017

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

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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

Editor's choice