Online First

December 14, 2021

December 07, 2021

December 06, 2021

November 22, 2021

November 15, 2021

November 08, 2021

November 05, 2021

  • Diagnostics
    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

October 29, 2021

October 25, 2021

September 23, 2021

September 20, 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

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

June 25, 2021

June 18, 2021

January 04, 2021

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