gastrointestinal diseases

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf

Journal of Medical Genetics Aug 2023, 60 (8) 747-759; DOI: 10.1136/jmg-2022-108931
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies

Journal of Medical Genetics Jul 2023, 60 (7) 636-643; DOI: 10.1136/jmg-2022-108862
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam

Journal of Medical Genetics Jun 2023, 60 (6) 568-575; DOI: 10.1136/jmg-2022-108807
Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
Benjamin A Lerner, Rosa M Xicola, Nicolette J Rodriguez, Rachid Karam, Xavier Llor

Journal of Medical Genetics Jan 2023, 60 (1) 36-40; DOI: 10.1136/jmedgenet-2021-108169
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer
Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Kai Sendelbach, Christian Gebhard, Melanie Locher, Andreas Laner, Verena Steinke-Lange, Udo Koehler, Elke Holinski-Feder, Dieter A Wolf

Journal of Medical Genetics Oct 2022, 59 (10) 976-983; DOI: 10.1136/jmedgenet-2021-108147
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype
Emilia Ip, Catriona McNeil, Peter Grimison, Tahlia Scheinberg, Emma Tudini, Gladys Ho, Rodney J Scott, Christina Brown, Charbel Sandroussi, Pascale Guitera, Amanda B Spurdle, Annabel Goodwin

Journal of Medical Genetics Sep 2022, 59 (9) 912-915; DOI: 10.1136/jmedgenet-2021-108072
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives
Islam Salikhanov, Karl Heinimann, Pierre Chappuis, Nicole Buerki, Rossella Graffeo, Viola Heinzelmann, Manuela Rabaglio, Monica Taborelli, Simon Wieser, Maria C. Katapodi

Journal of Medical Genetics Sep 2022, 59 (9) 924-930; DOI: 10.1136/jmedgenet-2021-108062
High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers
Shivani Ashar, Anuja Lipsa, Nikhat Khan, Rajiv Sarin

Journal of Medical Genetics May 2022, 59 (5) 492-495; DOI: 10.1136/jmedgenet-2021-107731
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
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

Journal of Medical Genetics Apr 2022, 59 (4) 318-327; DOI: 10.1136/jmedgenet-2020-107627

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gastrointestinal diseases