medical

  • Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
    Yong-Ping Chen, Shi-Hui Yu, Qian-Qian Wei, Bei Cao, Xiao-Jing Gu, Xue-Ping Chen, Wei Song, Bi Zhao, Ying Wu, Ming-Ming Sun, Fei-Fei Liu, Yan-Bing Hou, Ru-Wei Ou, Ling-Yu Zhang, Kun-Cheng Liu, Jun-Yu Lin, Xin-Ran Xu, Chun-Yu Li, Jing Yang, Zheng Jiang, Jiao Liu, Yang-Fan Cheng, Yi Xiao, Ke Chen, Fei Feng, Ying-Ying Cai, Shi-Rong Li, Tao Hu, Xiao-Qin Yuan, Xiao-Yan Guo, Hui Liu, Qing Han, Qing-Qing Zhou, Na Shao, Jian-Peng Li, Ping-Lei Pan, Sha Ma, Hui-Fang Shang
  • 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
  • Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
    Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway
  • Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
    Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang Tan
  • Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
    Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, Aviva Fattal, Adi Aran, Alla Kuzminsky, Liora Sagi, Dafna Guttman, Nira Schneebaum Sender, Varda Gross-Tsur, Tehila Klopstock, Tom Walsh, Paul Renbaum, Sharon Zeligson, Lilach Shemer Meiri, Dorit Lev, Dorit Shmueli, Luba Blumkin, Amnon Lahad, Mary-Claire King, Ephrat Lahad Levy, Reeval Segel
  • 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
  • Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
    Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
  • Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series
    Nattaporn Tassanakijpanich, Forrest J McKenzie, Yingratana A McLennan, Elisabeth Makhoul, Flora Tassone, Mittal J Jasoliya, Christopher Romney, Ignacio Cortina Petrasic, Kaye Napalinga, Caroline B Buchanan, Paul Hagerman, Randi Hagerman, Emily L Casanova
  • Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
    Jiangshan Cong, Xiong Wang, Amir Amiri-Yekta, Lingbo Wang, Zine-Eddine Kherraf, Chunyu Liu, Caroline Cazin, Shuyan Tang, Seyedeh Hanieh Hosseini, Shixiong Tian, Abbas Daneshipour, Jiaxiong Wang, Yiling Zhou, Yuyan Zeng, Shenmin Yang, Xiaojin He, Jinsong Li, Yunxia Cao, Li Jin, Pierre F Ray, Feng Zhang
  • Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
    Anne-Sophie Chong, Maria Apellaniz-Ruiz, Leanne de Kock, Dorothée Bouron-Dal Soglio, William R Doyle, John R Priest, Barbara Rivera, William D Foulkes

Pages