Online First

May 09, 2022

May 02, 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

April 28, 2022

April 27, 2022

April 25, 2022

April 21, 2022

April 12, 2022

April 08, 2022

April 07, 2022

April 06, 2022

March 31, 2022

March 22, 2022

  • Diagnostics
    A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
    Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach

March 09, 2022

March 08, 2022

  • Position statement
    UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
    Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher on behalf of UK Cancer Genetics Centres

March 07, 2022

  • Genotype-phenotype correlations
    Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
    Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta

March 01, 2022

  • Neurogenetics
    Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
    Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre

February 28, 2022

February 19, 2022

February 11, 2022

February 04, 2022

February 03, 2022

January 28, 2022

January 25, 2022

January 17, 2022

  • Cancer genetics
    Long-term tumour dormancy in a BRCA1 heterozygote
    Setor Amuzu, Lili Fu, Nadine Demko, Barbara Rivera, Celine Domecq, Leanne de Kock, Nancy Hamel, Lucy Gilbert, Paz Polak, Jiannis Ragoussis, William D Foulkes

January 13, 2022

  • Neurogenetics
    SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
    Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente University of Washington Center for Mendelian Genomics (UW-CMG) group

January 04, 2022

December 24, 2021

  • Novel disease loci
    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

December 22, 2021

December 21, 2021

December 16, 2021

December 15, 2021

  • 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

December 14, 2021

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