Evidence map›Paper›PMID 40205044›Full record

ArticleNature2025

Phenotypic complexities of rare heterozygous neurexin-1 deletions.

Michael B Fernando, Yu Fan, Yanchun Zhang, Alex Tokolyi, Aleta N Murphy, Sarah Kammourh, P J Michael Deans, Sadaf Ghorbani, Ryan Onatzevitch, Adriana Pero and 9 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. The genetics of cannabis lifetime use.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. The Role of mRNA Alternative Processing in Mammalian Neurodevelopment.International journal of molecular sciences · 2025
    Review
  16. Cell-type-resolvedbioRxiv : the preprint server for biology · 2025
    Article
  17. Distinct Synaptic Mechanisms DrivebioRxiv : the preprint server for biology · 2025
    Article
  18. Article
  19. Review
  20. Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Michael B FernandoGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-4620-8048
Yu Fan *Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-5978-5004
Yanchun Zhang *Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alex TokolyiNew York Genome Center, New York, NY, USA.ORCID 0000-0003-4222-7484
Aleta N MurphyGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sarah KammourhDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
P J Michael DeansDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Sadaf GhorbaniDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Ryan OnatzevitchNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Adriana PeroDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0003-0395-8911
Christopher PadillaDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0009-0001-0742-635X
Sarah E WilliamsGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Erin K FlahertyGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Iya A PrytkovaGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lei CaoDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-6488-4106
David A KnowlesNew York Genome Center, New York, NY, USA.ORCID 0000-0002-7408-146X
Gang FangDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. gang.fang@mssm.edu.ORCID 0000-0002-2462-9124
Paul A SlesingerGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA. paul.slesinger@mssm.edu.ORCID 0000-0002-3868-7528
Kristen J BrennandNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@yale.edu.ORCID 0000-0003-0993-5956

Funding

Cell-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
$4.4M
NIMH NIH HHS R01 MH121074
6 · The paper itself

Abstract

Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the extent to which diverse mutations-sometimes affecting the same gene-will require tailored therapeutic strategies. Here we consider this in the context of rare neuropsychiatric disorder-associated copy number variants (2p16.3) resulting in heterozygous deletions in NRXN1, which encodes a presynaptic cell-adhesion protein that serves as a critical synaptic organizer in the brain. Complex patterns of NRXN1 alternative splicing are fundamental to establishing diverse neurocircuitry, vary between the cell types of the brain and are differentially affected by unique (non-recurrent) deletions

Indexed as

Cell Adhesion Molecules, NeuronalGene DeletionHeterozygoteNeural Cell Adhesion MoleculesPhenotypeSequence DeletionAlternative SplicingAnimalsCalcium-Binding ProteinsDNA Copy Number VariationsFemaleGABAergic NeuronsHumansInduced Pluripotent Stem CellsLoss of Function MutationMaleCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalNeural Cell Adhesion MoleculesNRXN1 protein, human

Identifiers

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.