Paediatrics

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan

Journal of Medical Genetics Nov 2022, jmedgenet-2022-108734; DOI: 10.1136/jmg-2022-108734
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee

Journal of Medical Genetics Nov 2022, 59 (11) 1044-1057; DOI: 10.1136/jmedgenet-2021-108115
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang Tan

Journal of Medical Genetics Aug 2022, 59 (8) 748-758; DOI: 10.1136/jmedgenet-2021-107902
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
Lisa Golmard, Lauren M Vasta, Valérie Duflos, Carole Corsini, Catherine Dubois d'Enghien, Mary L McMaster, Laura A Harney, Ann G Carr, Alexander Ling, Frédérique Dijoud, Arnaud Gauthier, Markku Miettinen, Nicholas G Cost, Marion Gauthier-Villars, Daniel Orbach, Sabine Irtan, Stéphanie Haouy, Kris Ann Schultz, Dominique Stoppa-Lyonnet, Isabelle Coupier, Douglas R Stewart, Nicolas Sirvent

Journal of Medical Genetics Apr 2022, 59 (4) 346-350; DOI: 10.1136/jmedgenet-2020-107434
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108186; DOI: 10.1136/jmedgenet-2021-108186
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108006; DOI: 10.1136/jmedgenet-2021-108006
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff

Journal of Medical Genetics Aug 2017, 54 (8) 550-557; DOI: 10.1136/jmedgenet-2016-104432

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Paediatrics