You are here

genetics

  • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors
    Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou
    Journal of Medical Genetics Nov 2021, jmedgenet-2021-107904; DOI: 10.1136/jmedgenet-2021-107904
  • A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
    Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-108150; DOI: 10.1136/jmedgenet-2021-108150
  • Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants
    Clément Desjardins, Frédéric Caux, Bertrand Degos, Djallel Benzohra, Astrid De Liège, Gérôme Bohelay, Michel Longy, Chloé Béreaux, Béatrice Garcin
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-107954; DOI: 10.1136/jmedgenet-2021-107954
  • Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients
    Kenan Zhang, Jianhui Qiu, Wuping Yang, Kaifang Ma, Lei Li, Haibiao Xie, Yawei Xu, Yanqing Gong, Jingcheng Zhou, Lin Cai, Kan Gong
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-108216; DOI: 10.1136/jmedgenet-2021-108216
  • Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
    Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M Girisha, Barbara Plecko
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-108061; DOI: 10.1136/jmedgenet-2021-108061
  • Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome
    Peter Igaz, Geza Toth, Peter Nagy, Katalin Dezső, Peter Istvan Turai, Marta Medvecz, Norbert Wikonkal, Gergely Huszty, László Piros, Erika Toth, Aniko Bozsik, István Likó, Attila Patócs, Henriett Butz
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-108082; DOI: 10.1136/jmedgenet-2021-108082
  • Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts
    Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-107820; DOI: 10.1136/jmedgenet-2021-107820
  • Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
    Pratul Kumar Jain, Shashank Jayappa, Thiagarajan Sairam, Anupam Mittal, Sayan Paul, Vinay J Rao, Harshil Chittora, Deepak K Kashyap, Dasaradhi Palakodeti, Kumarasamy Thangaraj, Jayaprakash Shenthar, Rakesh Koranchery, Ranjith Rajendran, Haghighi Alireza, Kurukkanparampil Sreedharan Mohanan, Andiappan Rathinavel, Perundurai S Dhandapany
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-107866; DOI: 10.1136/jmedgenet-2021-107866
  • De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
    Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard
    Journal of Medical Genetics Dec 2021, jmedgenet-2021-107751; DOI: 10.1136/jmedgenet-2021-107751
  • NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
    Yu Fan, Yuming Xu, Changhe Shi
    Journal of Medical Genetics Jan 2022, 59 (1) 1-9; DOI: 10.1136/jmedgenet-2021-107883

Pages