gene expression regulation

  • 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
  • Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
    Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Milagros Alonso, Istaq Ahmad, Sana Zahra, Deepak Kumar, Neetu Kushwah, Uzma Shamim, Haseena Sait, Seema Kapoor, Belen Roldán, Gen Nishimura, Amaka C Offiah, Mohammed Faruq, Karen E. Heath
  • Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways
    William Schierding, Julia A Horsfield, Justin M O'Sullivan