Press releases

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N Rosenthal

Journal of Medical Genetics Oct 2022, jmedgenet-2022-108741; DOI: 10.1136/jmg-2022-108741
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer

Journal of Medical Genetics Feb 2021, 58 (2) 96-104; DOI: 10.1136/jmedgenet-2020-106863
Association between genetic polymorphisms and endometrial cancer risk: a systematic review
Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie

Journal of Medical Genetics Sep 2020, 57 (9) 591-600; DOI: 10.1136/jmedgenet-2019-106529
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
George J Burghel, Unzela Khan, Wei-Yu Lin, William Whittaker, Siddharth Banka

Journal of Medical Genetics Jan 2020, 57 (1) 70-72; DOI: 10.1136/jmedgenet-2019-106292
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg

Journal of Medical Genetics Aug 2017, 54 (8) 558-566; DOI: 10.1136/jmedgenet-2016-104366
Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysis
Ranjit Manchanda, Rosa Legood, Antonis C Antoniou, Vladimir S Gordeev, Usha Menon

Journal of Medical Genetics Sep 2016, 53 (9) 591-599; DOI: 10.1136/jmedgenet-2016-103800
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
Jayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman

Journal of Medical Genetics Nov 2011, 48 (11) 776-778; DOI: 10.1136/jmedgenet-2011-100147

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