genotype

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
New insights into CC2D2A-related Joubert syndrome
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

Journal of Medical Genetics Nov 2022, jmedgenet-2022-108754; DOI: 10.1136/jmg-2022-108754
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions
Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Gong

Journal of Medical Genetics Sep 2022, jmedgenet-2022-108633; DOI: 10.1136/jmg-2022-108633
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Yuelin Shen, Xiaolei Tang, Qionghua Chen, Hui Xu, Hui Liu, Jinrong Liu, Haiming Yang, Huimin Li, Shunying Zhao

Journal of Medical Genetics Jul 2022, jmedgenet-2022-108501; DOI: 10.1136/jmg-2022-108501
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population
Pei Ji, Jiang Chang, Xiaoyu Wei, Xueyao Song, Hua Yuan, Linnan Gong, Yuancheng Li, Dongsheng Ding, Erbao Zhang, Caiwang Yan, Meng Zhu, Xiaoping Miao, Chen Wu, Guangfu Jin, Zhibin Hu, Hongbing Shen, Hongxia Ma

Journal of Medical Genetics Apr 2022, 59 (4) 335-345; DOI: 10.1136/jmedgenet-2020-107410
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
Zhimei Liu, Li Zhang, Changhong Ren, Manting Xu, Shufang Li, Rui Ban, Ye Wu, Ling Chen, Suzhen Sun, Matthias Elstner, Masaru Shimura, Minako Ogawa-Tominaga, Kei Murayama, Tieliu Shi, Holger Prokisch, Fang Fang

Journal of Medical Genetics Apr 2022, 59 (4) 351-357; DOI: 10.1136/jmedgenet-2020-107383
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente

Journal of Medical Genetics Apr 2022, 59 (4) 399-409; DOI: 10.1136/jmedgenet-2020-107497
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta

Journal of Medical Genetics Mar 2022, jmedgenet-2021-108093; DOI: 10.1136/jmedgenet-2021-108093
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
Albina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock

Journal of Medical Genetics Mar 2022, 59 (3) 287-293; DOI: 10.1136/jmedgenet-2020-107338
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino

Journal of Medical Genetics Feb 2022, 59 (2) 189-195; DOI: 10.1136/jmedgenet-2020-107225

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