Skip to Main Content

Paper Details

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Clin Genet
33
2017
CNVs, Copy number variants, DD/, DD/ID, ID, TAD) boundaries, Topological Associated Domain, candidate disease genes, copy number variants, developmental delay, disease genes, genomic disorders, intellectual disability, isolated and syndromic developmental delay, known, novel candidate genes, patients, rare
Author NameAffiliation
Malte SpielmannMax Planck Institute for Molecular Genetics
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Silvia De RubeisIcahn School of Medicine at Mount Sinai
Giovanni Battista FerreroUniversity of Torino
  • 1 - 16

Datasets

Release 1.2