Journal of Medical Genetics: 59 (4)

April 2022 - Volume 59 - 4

Cancer genetics

CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome
(24 December, 2021)
Giovanni Corso, Francesca Magnoni, Giulia Massari, Cristina Maria Trovato, Alessandra Margherita De Scalzi, Elisa Vicini, Bernardo Bonanni, Paolo Veronesi, Viviana Galimberti, Vincenzo Bagnardi
Original research: Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (23 February, 2021)
Melyssa Aronson, Chrystelle Colas, Andrew Shuen, Heather Hampel, William D Foulkes, Hagit Baris Feldman, Yael Goldberg, Martine Muleris, Kami Wolfe Schneider, Rose B McGee, Kory Jasperson, Arun Rangaswami, Laurence Brugieres, Uri Tabori
Original research: Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers (15 January, 2021)
D Gareth Evans, Fiona Lalloo, Neil AJ Ryan, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Rhona J McVey, Andrew J Wallace, Katy Newton, James Hill, Raymond McMahon, Emma J Crosbie
Original research:
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population
(5 March, 2021)
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
Short report:
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
(29 March, 2021)
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

Neurogenetics

Original research:
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
(2 April, 2021)
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
Original research:
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
(5 April, 2021)
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
(5 February, 2021)
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor

Screening

Original research: Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel (9 February, 2021)
Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding

Biochemical genetics

Original research: Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency (18 March, 2021)
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Sarah Snanoudj, Benedicte Heron, Thierry Levade, Catherine Caillaud, Sabrina Vergnaud, Pascale Saugier-Veber, Sophie Coutant, Hélène Dranguet, Roseline Froissart, Majed Al Khouri, Yves Alembik, Julien Baruteau, Jean-Baptiste Arnoux, Anais Brassier, Anne-Claire Brehin, Tiffany Busa, Aline Cano, Brigitte Chabrol, Christine Coubes, Isabelle Desguerre, Martine Doco-Fenzy, Bernard Drenou, Nursel H Elcioglu, Solaf Elsayed, Alain Fouilhoux, Céline Poirsier, Alice Goldenberg, Philippe Jouvencel, Alice Kuster, François Labarthe, Leila Lazaro, Samia Pichard, Serge Rivera, Sandrine Roche, Stéphanie Roggerone, Agathe Roubertie, Sabine Sigaudy, Marta Spodenkiewicz, Marine Tardieu, Catherine Vanhulle, Stéphane Marret, Soumeya Bekri

Diagnostics

Original research: Improving the clinical interpretation of missense variants in X linked genes using structural analysis (25 March, 2021)
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black
Original research: Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders (20 April, 2021)
Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George J Burghel, Laura Dutton, Siddharth Banka, Tracy A Briggs, Jill Clayton-Smith, Sofia Douzgou, Elizabeth A Jones, Helen M Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E Chandler, Helen M Stuart, Emma MM Burkitt-Wright, William G Newman, Iain A Bruce, Graeme C Black, David Gokhale

Genotype-phenotype correlations

Original research: Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (5 March, 2021)
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

Abstracts

Abstracts from 2021 CCMG-CCGM (31 December, 2021)

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Table of contents

April 2022 - Volume 59 - 4

Cancer genetics

Neurogenetics

Screening

Biochemical genetics

Diagnostics

Genotype-phenotype correlations

Abstracts

Issue Information

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Table of contents

April 2022 - Volume 59 - 4

Cancer genetics

Neurogenetics

Screening

Biochemical genetics

Diagnostics

Genotype-phenotype correlations

Abstracts

Issue Information