genetic carrier screening

Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
Vinit Singh, Thomas E Rafter, Mohamad Sharbatji, Jing Liu, Quiana Brown, Karina Brierley, Claire Healy, Rosa M Xicola, Nitu M Kashyap, Xavier Llor

Journal of Medical Genetics May 2025, jmg-2025-110718; DOI: 10.1136/jmg-2025-110718
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries
Eric Lee, Kaylee Orton

Journal of Medical Genetics Mar 2025, 62 (3) 219-226; DOI: 10.1136/jmg-2024-110365
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers
Benjamin A Lerner, Mar Giner-Calabuig, Cassidy Carraway, Marcy Richardson, Karl Krahn, Lisa Susswein, Sarah M Nielsen, Rachid Karam, Rosa M Xicola, Xavier Llor

Journal of Medical Genetics Feb 2025, 62 (2) 57-61; DOI: 10.1136/jmg-2024-110446
Genetics of prostate cancer: a review of latest evidence
Rose Hall, Elizabeth Bancroft, Nora Pashayan, Zsofia Kote-Jarai, Rosalind A Eeles

Journal of Medical Genetics Oct 2024, 61 (10) 915-926; DOI: 10.1136/jmg-2024-109845
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
Betiana Michelle Ziegler, Miguel Martin Abelleyro, Vanina Daniela Marchione, Nicolás Lazarte, Martín Manuel Ledesma, Ludmila Elhelou, Daniela Neme, Liliana Carmen Rossetti, Enrique Medina-Acosta, Florencia Giliberto, Carlos De Brasi, Claudia Pamela Radic

Journal of Medical Genetics Aug 2024, 61 (8) 769-776; DOI: 10.1136/jmg-2024-109902
Expanded targeted preconception screening panel in Israel: findings and insights
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Ellie Portugali, Tova Hallas, Amit Weinstein, Alina Kurolap, Michal Berkenstadt, Tal Mantsour, Liat Abu-Gutstein, Liat Ries-Levavi, Haike Reznik-Wolf, Doron Moshe Behar, Yuval Yaron, Elon Pras, Hagit Baris Feldman

Journal of Medical Genetics Aug 2024, 61 (8) 783-787; DOI: 10.1136/jmg-2023-109629
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Emma L Baple, Helen Hanson

Journal of Medical Genetics Aug 2024, 61 (8) 813-816; DOI: 10.1136/jmg-2024-109910
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort
Xiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan

Journal of Medical Genetics May 2024, 61 (5) 459-468; DOI: 10.1136/jmg-2023-109579
Carriers of autosomal recessive conditions: are they really ‘unaffected?’
Amber Hames, Sophia Khan, Clara Gilliland, Lucy Goldman, Hillary WH Lo, Kevin Magda, Justine Keathley

Journal of Medical Genetics Jan 2024, 61 (1) 1-7; DOI: 10.1136/jmg-2023-109563
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

Journal of Medical Genetics Sep 2023, 60 (9) 885-893; DOI: 10.1136/jmg-2022-108725

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