Online First

October 19, 2021

October 16, 2021

  • Neurogenetics
    Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier

October 11, 2021

October 05, 2021

September 23, 2021

September 20, 2021

September 07, 2021

September 05, 2021

September 03, 2021

August 30, 2021

August 27, 2021

August 24, 2021

August 16, 2021

August 10, 2021

August 05, 2021

August 04, 2021

August 03, 2021

August 02, 2021

  • Phenotypes
    Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
    Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian HY Chung, Marcus CY Chan, Jasmine LF Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Y Tan, Jenny C Taylor, John Christodoulou, Susan M White

July 28, 2021

  • Neurogenetics
    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
  • Neurogenetics
    Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
    Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M. Wentzensen, Maura R. Z. Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie Rama, Kathleen Brown, Sandra Whalen, Alban Ziegler, Magali Barth, Anna Chassevent, Constance Smith-Hicks, Alexandra Afenjar, Thomas Courtin, Solveig Heide, Esperanza Font-Montgomery, Caleb Heid, J. Austin Hamm, Donald R. Love, Farouq Thabet, Vinod K. Misra, Mitch Cunningham, Suzanne M. Leal, Irma Jarvela, Elizabeth A. Normand, Fanggeng Zou, Mayada Helal, Boris Keren, Erin Torti, Wendy K. Chung, Isabelle Schrauwen
  • Cognitive and behavioural genetics
    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

July 19, 2021

July 16, 2021

July 15, 2021

June 25, 2021

June 18, 2021

June 16, 2021

May 21, 2021

May 18, 2021

May 07, 2021

April 28, 2021

April 22, 2021

April 20, 2021

April 19, 2021

  • Diagnostics
    Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
    Chloe Mighton, Amanda C Smith, Justin Mayers, Robert Tomaszewski, Sherryl Taylor, Stacey Hume, Ron Agatep, Elizabeth Spriggs, Harriet E Feilotter, Laura Semenuk, Henry Wong, Lorena Lazo de la Vega, Christian R Marshall, Michelle M Axford, Talia Silver, George S Charames, Vanessa Di Gioacchino, Nicholas Watkins, William D Foulkes, Marcos Clavier, Nancy Hamel, George Chong, Ryan E Lamont, Jillian Parboosingh, Aly Karsan, Ian Bosdet, Sean S Young, Tracy Tucker, Mohammad Reza Akbari, Marsha D Speevak, Andrea K Vaags, Matthew S Lebo, Jordan Lerner-Ellis Canadian Open Genetics Repository Working Group

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