ArticleNature genetics2019
Neuronal impact of patient-specific aberrant NRXN1α splicing.
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In one paragraph
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 1 pooled it
5.9field-weighted citation impact, top 3% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
86 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Neurexin dysfunction in neurodevelopmental and neuropsychiatric disorders: a PRIMSA-based systematic review through iPSC and animal models.Frontiers in behavioral neuroscience · 2024Pooled it
- Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.Molecular psychiatry · 2026Article
- Towards modelling mental disorders in zebrafish. Neurexins severely modulate anxiety, affiliative social behaviour and aggression.Molecular psychiatry · 2026Article
- Spared corticospinal neurons activate an endogenous plasticity program after partial CNS injury.bioRxiv : the preprint server for biology · 2026Article
- Review
- Alternative splicing plasticity of the neurexin family of synaptic adhesion molecules in human sensory neurons.bioRxiv : the preprint server for biology · 2026Article
- In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.Human molecular genetics · 2026Article
- Tools and tactics for studying alternative splicing.Nature reviews. Genetics · 2026Review
- Intrafamilial Variability inInternational journal of molecular sciences · 2026Review
- Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions.Disease models & mechanisms · 2026Article
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- R-loop landscapes in the developing human brain are linked to neural differentiation and cell type-specific transcription.Translational psychiatry · 2026Article
- 3D genetic architecture of schizophrenia risk across three neuronal subtypes.Molecular psychiatry · 2026Article
- Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons.Cell reports · 2026Article
- Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compounds.bioRxiv : the preprint server for biology · 2026Article
- Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions across development.bioRxiv : the preprint server for biology · 2026Article
- Functional implications of polygenic risk for schizophrenia in human neurons.Nature communications · 2026Article
- Cell-type-resolvedbioRxiv : the preprint server for biology · 2025Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 5 institutions in 1 country.
Erin Flaherty *Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shijia Zhu *Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Natalie BarrettoGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-1208-0453
Esther ChengGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
P J Michael DeansFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Michael B FernandoNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4620-8048
Nadine SchrodeFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-5315-6816
Nancy FrancoeurDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alesia AntoineDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Khaled AlganemDepartment of Neurosciences, Institute in the College of Medicine & Life Sciences, The University of Toledo, Toledo, OH, USA.
Madeline HalpernGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gintaras DeikusDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hardik ShahDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Megan FitzgeraldFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ian LadranFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Peter GochmanChildhood Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Judith RapoportChildhood Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Nadejda M TsankovaNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robert McCullumsmithDepartment of Neurosciences, Institute in the College of Medicine & Life Sciences, The University of Toledo, Toledo, OH, USA.
Gabriel E HoffmanDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-0957-0224
Robert SebraDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gang FangDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. gang.fang@mssm.edu.ORCID http://orcid.org/0000-0002-2462-9124
Kristen J BrennandNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.ORCID http://orcid.org/0000-0003-0993-5956
Icahn School of Medicine at Mount Sinai · USAllen Institute for Brain Science · USNational Institutes of Health · USNeurosciences Institute · USThe University of Texas Southwestern Medical Center · US
Funding
Higher Order Chromatin and Genetic Risk for SchizophreniaR01MH106056 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, BRENNAND, KRISTEN JENNIFER · 2015 to 2023
$6.7MCell-type-specific NRXN1alpha alternative splicing changes in psychiatric diseaseR01MH121074 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, FANG, GANG · 2019 to 2023
$4.4MContrasting causal microRNAs in forebrain and midbrain COS hiPSC neural cellsR01MH101454 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER · 2013 to 2017
$2.8MTransforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9MCell-specific analysis of sub-kinomes in schizophreniaR01MH107487 · NIMH · UNIVERSITY OF TOLEDO HEALTH SCI CAMPUS · PI MCCULLUMSMITH, ROBERT E, MELLER, JAREK · 2016 to 2020
$1.9MProteomic analysis of the postsynaptic density-95 interactome in schizophreniaR21MH107916 · NIMH · UNIVERSITY OF TOLEDO HEALTH SCI CAMPUS · PI MCCULLUMSMITH, ROBERT E · 2016 to 2017
$434kCharacterization of hiPSC-neurons from psychosis patients with neurexin-1 deletionsF31MH112285 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI FLAHERTY, ERIN · 2017 to 2018
$83kNIH HHS S10 OD018522NIMH NIH HHS F31 MH112285NIMH NIH HHS R01 MH101454NIMH NIH HHS R01 MH106056NIMH NIH HHS R01 MH107487NIMH NIH HHS R01 MH121074NIMH NIH HHS R21 MH107916
Abstract
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human induced pluripotent stem cell (hiPSC)-derived neurons well represent the diversity of NRXN1α alternative splicing observed in the human brain, cataloguing 123 high-confidence in-frame human NRXN1α isoforms. Patient-derived NRXN1
Indexed as
Alternative SplicingAnimalsAutism Spectrum DisorderBipolar DisorderCalcium-Binding ProteinsCase-Control StudiesFemaleGene ExpressionHeterozygoteHumansInduced Pluripotent Stem CellsMajor Depressive DisorderMaleMiceNeural Cell Adhesion MoleculesProtein IsoformsCalcium-Binding ProteinsNeural Cell Adhesion MoleculesNRXN1 protein, humanNrxn1 protein, mouseProtein Isoforms
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