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Research

PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network" > Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

  • Nicolas Chassaing
  • Erica E. Davis
  • Kelly L. McKnight
  • Adrienne R. Niederriter
  • Alexandre Causse
  • Véronique David Annaïck Desmaison Sophie Lamarre Catherine Vincent-Delorme Laurent Pasquier Christine Coubes Didier Lacombe Massimiliano Rossi Jean-Louis Dufier Helene Dollfus Josseline Kaplan
  • ... [+11 authors] ...,
  • Nicholas Katsanis
  • Heather C. Etchevers
  • Stanislas Faguer
  • Patrick Calvas
  • First Published February 18, 2016
Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

  • Guntram Borck
  • Friederike Hög
  • Maria Lisa Dentici
  • Perciliz L. Tan
  • Nadine Sowada
  • Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
  • ... [+16 authors] ...,
  • Bruno Dallapiccola
  • Nicholas Katsanis
  • Patrick Cramer
  • Christian Kubisch
  • First Published January 5, 2015
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