Journal of Medical Genetics: 57 (10)

Phenotypes

Original research:
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families
(14 January, 2020)
Erica Shen, Joanne Xiu, Giselle Y Lopez, Rex Bentley, Ali Jalali, Amy B Heimberger, Matthew N Bainbridge, Melissa L Bondy, Kyle M Walsh
Original research: Cancer patients’ views and understanding of genome sequencing: a qualitative study (24 January, 2020)
Nicci Bartley, Megan Best, Chris Jacobs, Ilona Juraskova, Ainsley J Newson, Jacqueline Savard, Bettina Meiser, Mandy L Ballinger, David M Thomas, Barbara Biesecker, Phyllis Butow
Short report: Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility (13 March, 2020)
Coral Arnau-Collell, Yasmin Soares de Lima, Marcos Díaz-Gay, Jenifer Muñoz, Sabela Carballal, Laia Bonjoch, Leticia Moreira, Juan José Lozano, Teresa Ocaña, Miriam Cuatrecasas, Aranzazu Díaz de Bustamante, Antoni Castells, Gabriel Capellà, Luis Bujanda, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Francesc Balaguer, Clara Ruiz-Ponte, Laura Valle, Victor Moreno, Sergi Castellvi-Bel

Original research: Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood (13 February, 2020)
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple
Original research: Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank (5 March, 2020)
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

Original research: Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation (8 March, 2020)
Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Original research:
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
(11 March, 2020) Free
Guillaume Martinez, Julie Beurois, Denis Dacheux, Caroline Cazin, Marie Bidart, Zine-Eddine Kherraf, Derrick R Robinson, Véronique Satre, Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Yann Fichou, Graciane Petre, Emmanuel Dulioust, Raoudha Zouari, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Mélanie Bonhivers, Pierre Ray, Charles Coutton

Original research:
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
(9 March, 2020)
Jorge Luis Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze T Stumpel, Margje Sinnema, Bianca Panis, Rolph Pfundt, Ingrid P C Krapels, Merel Klaassens, Joost Nicolai, Jinliang Li, Yuwu Jiang, Elysa Marco, Ana Canton, Ana Claudia Latronico, Luciana Montenegro, Bruno Leheup, Celine Bonnet, Shivarajan M. Amudhavalli, Caitlin E Lawson, Kirsty McWalter, Aida Telegrafi, Richard Pearson, Malin Kvarnung, Xia Wang, Weimin Bi, Jill Anne Rosenfeld, Marwan Shinawi