genetics

  • 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
  • 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
  • A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
    Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor
  • 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
  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population
    Li Zhang, Zixin Qin, Teng Huang, Benjamin Tam, Yongsen Ruan, Maoni Guo, Xiaobing Wu, Jiaheng Li, Bojin Zhao, Jia Sheng Chian, Xiaoyu Wang, Lei Wang, San Ming Wang
  • 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
  • Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
    Núria Catasús, Belen Garcia, Iván Galván-Femenía, Adrià Plana, Alejandro Negro, Inma Rosas, Andrea Ros, Emilio Amilibia, Juan Luis Becerra, Cristina Hostalot, Francesc Rocaribas, Isabel Bielsa, Conxi Lazaro Garcia, Rafael de Cid, Eduard Serra, Ignacio Blanco, Elisabeth Castellanos
  • 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
  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
    Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger
  • 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

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