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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

  • Elizabeth A. Werren
  • , Emily R. Peirent
  • , Henna Jantti
  • , Alba Guxholli
  • , Kinshuk Raj Srivastava
  • , Naama Orenstein
  • , Vinodh Narayanan
  • , Wojciech Wiszniewski
  • , Mateusz Dawidziuk
  • , Pawel Gawlinski
  • , Muhammad Umair
  • , Amjad Khan
  • , Shahid Niaz Khan
  • , David Geneviève
  • , Daphné Lehalle
  • , K. L.I. van Gassen
  • , Jacques C. Giltay
  • , Renske Oegema
  • , Richard H. van Jaarsveld
  • , Rafiullah Rafiullah
  • Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

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18 Scopus citations

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Biochemistry, Genetics and Molecular Biology