Online First

August 17, 2022

August 16, 2022

August 12, 2022

August 11, 2022

August 04, 2022

July 29, 2022

July 26, 2022

  • Genotype-phenotype correlations
    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

July 25, 2022

July 20, 2022

July 14, 2022

July 11, 2022

July 08, 2022

July 05, 2022

  • Cognitive and behavioural 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
  • Phenotypes
    Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
    Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Kristen L Liedtke, Christina T Lam, Esperanza Font-Montgomery, Charles M Lourenco, Miao He, Dawn S Peck, Luis A Umana, Crescenda L Uhles, Devon Haynes, Patricia G Wheeler, Michael J Bamshad, Deborah A Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M Byers, UW Center for Mendelian Genomics, Fernanda B Scalco, Noelia N Martinez, Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah V Harris, Ingrid E Scheffer, Sergio D Rosenzweig, David R Adams, William A Gahl, May Christine V Malicdan, Kimiyo M Raymond, Hudson H Freeze, Lynne A Wolfe
  • Developmental defects
    Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
    Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
  • Cancer genetics
    Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
    Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell

July 04, 2022

  • Novel disease loci
    Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
    Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva M C Schwaibold, Christoph Schmidt, Luisa Averdunk, Rebecca Buchert, Tilman Heinrich, Natalia Prodan, Joohyun Park, Martin Kehrer, Marc Sturm, Olga Kelemen, Silke Hartmann, Denise Horn, Dirk Emmerich, Nina Hirt, Armin Neumann, Glen Kristiansen, Ulrich Gembruch, Susanne Haen, Reiner Siebert, Sabine Hentze, Markus Hoopmann, Stephan Ossowski, Stephan Waldmüller, Stefanie Beck-Wödl, Dieter Gläser, Ismail Tekesin, Felix Distelmaier, Olaf Riess, Karl-Oliver Kagan, Andreas Dufke, Tobias B Haack

June 30, 2022

June 29, 2022

June 28, 2022

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June 15, 2022

June 14, 2022

June 03, 2022

June 02, 2022

May 25, 2022

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May 16, 2022

May 09, 2022

April 28, 2022

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March 31, 2022

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