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Paper Details

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
HGG Adv
4
2022
22q.13, 22q13, CD16, CD16- NK cell, CD56, CD56+, CD56+ CD16- NK cell, NCAM1, NK cells, PMS, Phelan-McDermid syndrome, SHANK3, blood, class II mutations, cytotoxic, cytotoxic natural killer (NK) immune cell, haploinsufficiency of the SHANK3 gene, neurodevelopmental disorder, participants, peripheral blood, sphingolipid, subtelomeric 22q13, underexpressed genes
Author NameAffiliation
Michael S BreenSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Michael S BreenMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Michael S BreenIcahn School of Medicine at Mount Sinai
Michael S BreenIcahn School of Medicine at Mount Sinai
Jonathan A BernsteinStanford University School of Medicine
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn 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 BuxbaumMindich Child Health and Development Institute, Icahn 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 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 BuxbaumMindich Child Health and Development Institute, Icahn 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
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