Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Hans‐Jürgen Kreienkamp(Universität Hamburg), Davor Lessel(Universität Hamburg), Allyn McConkie-Rossell(Duke University), Meghan Dumas(University of British Columbia), Rosemarie Smith(Maine Medical Center), Jonas Denecke(Universität Hamburg), Heike Weigand(Ludwig-Maximilians-Universität München), Jean‐François Soucy(Centre Hospitalier Universitaire Sainte-Justine), Jennifer Bain(Columbia University Irving Medical Center), Matias Wagner(Helmholtz Zentrum München), Marie McDonald(Duke University), Jacques L. Michaud(Centre Hospitalier Universitaire Sainte-Justine), Maja Hempel(Helmholtz Zentrum München), Cyril Mignot(Sorbonne Université), Ulrike Löbel(Great Ormond Street Hospital for Children NHS Foundation Trust), Philippe M. Campeau(Centre Hospitalier Universitaire Sainte-Justine), Boris Keren(Sorbonne Université), Julie Gauthier(Centre Hospitalier Universitaire Sainte-Justine), Christian Kubisch(University of Bonn)
Cited by 24
Related Papers
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
|Nature Genetics|2006|1.2k
A Potassium Channel Mutation in Neonatal Human Epilepsy
|Science|1998|1.1k
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
|Cell|1999|868