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Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Ian M Frayling, Victor-Felix Mautner, Rick van Minkelen, Roope A Kallionpaa, Safiye Aktaş, Diana Baralle, Shay Ben-Shachar, Alison Callaway, Harriet Cox, Diana M Eccles, Salah Ferkal, Holly LaDuca, Conxi Lázaro, Mark T Rogers, Aaron J Stuenkel, Pia Summerour, Ali Varan, Yoon Sim Yap, Ouidad Zehou, Juha Peltonen, D Gareth Evans, Pierre Wolkenstein, Meena Upadhyaya

10.1136/jmedgenet-2018-105599

December 10, 2018

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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

10.1136/jmedgenet-2018-105834

March 19, 2019

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

10.1136/jmedgenet-2018-105874

April 17, 2019

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

10.1136/jmedgenet-2018-105877

February 25, 2019