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Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
Inge M M Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E Braspenning, Klaartje van Engelen, Irma van de Beek, Annemiek H van der Hout, Encarna B Gómez García, Arjen R Mensenkamp, Margreet G E M Ausems, Maartje J Hooning, Muriel A Adank, Antoinette Hollestelle, Marjanka K Schmidt, Christi J van Asperen, Peter Devilee

Journal of Medical Genetics Apr 2023, 60 (4) 327-336; DOI: 10.1136/jmg-2022-108502
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato

Journal of Medical Genetics Apr 2023, 60 (4) 359-367; DOI: 10.1136/jmg-2022-108602
Axenfeld-Rieger syndrome: more than meets the eye
Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina

Journal of Medical Genetics Apr 2023, 60 (4) 368-379; DOI: 10.1136/jmg-2022-108646
Prevalence of Fabry disease-causing variants in the UK Biobank
Mark Gilchrist, Francesco Casanova, Jess S Tyrrell, Stuart Cannon, Andrew R Wood, Nicole Fife, Katherine Young, Richard A Oram, Michael N Weedon

Journal of Medical Genetics Apr 2023, 60 (4) 391-396; DOI: 10.1136/jmg-2022-108523
A founder UMOD variant is a common cause of hereditary nephropathy in the British population
Manoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong

Journal of Medical Genetics Apr 2023, 60 (4) 397-405; DOI: 10.1136/jmg-2022-108704
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti

Journal of Medical Genetics Apr 2023, 60 (4) 406-415; DOI: 10.1136/jmg-2022-108690
MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1
Nicola Flaum, Emma J Crosbie, Emma Roisin Woodward, Fiona Lalloo, Robert Morgan, Neil Ryan, D Gareth Evans

Journal of Medical Genetics Mar 2023, jmg-2022-109055; DOI: 10.1136/jmg-2022-109055
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R Velayudhan

Journal of Medical Genetics Mar 2023, jmedgenet-2022-108714; DOI: 10.1136/jmg-2022-108714
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance

Journal of Medical Genetics Feb 2023, jmg-2022-108962; DOI: 10.1136/jmg-2022-108962
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 Mar 2023, 60 (3) 310-315; DOI: 10.1136/jmg-2022-108501

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