Evidence map›Paper›PMID 37961635›Full record

ArticlebioRxiv : the preprint server for biology2024

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

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed, 5 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 5 institutions in 2 countries.

Michael B FernandoGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Yu FanDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Yanchun ZhangDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Alex TokolyiNew York Genome Center, New York, NY, 10013.
Aleta N MurphyGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Sarah KammourhDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
P J Michael DeansDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, 06520.
Sadaf GhorbaniHaukeland University Hospital, Bergen, Norway.
Ryan OnatzevitchNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Adriana PeroDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Christopher PadillaDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Sarah WilliamsGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Erin K FlahertyGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Iya A PrytkovaGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.ORCID 0000-0001-8919-8778
Lei CaoDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
David A KnowlesNew York Genome Center, New York, NY, 10013.
Gang FangDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Paul A SlesingerGraduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Kristen J BrennandNash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029.ORCID 0000-0003-0993-5956
Icahn School of Medicine at Mount Sinai · USAllen Institute for Brain Science · USNew York Genome Center · USHaukeland University Hospital · NOYale University · US

Funding

High-throughput in vivo and in vitro functional and multi-omics screens of neuropsychiatric and neurodevelopmental disorder risk genesRM1MH132648 · NIMH · YALE UNIVERSITY · PI Kristen Jennifer Brennand, Rong Fan · 2023 to 2026
$5.6M
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
Resolving complex alternative splicing of psychiatric disease genes using single-cell approachesR01MH125579 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, FANG, GANG · 2021 to 2025
$4.1M
Functional convergence following disruption of diverse genes associated with neurodevelopmental disordersR01MH123155 · NIMH · YALE UNIVERSITY · PI BRENNAND, KRISTEN JENNIFER, RUDERFER, DOUGLAS · 2021 to 2025
$4.1M
Elucidating the Role of KCNJ6 in a Human Neuronal Model of Alcohol Use DisorderF31AA027949 · NIAAA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PRYTKOVA, IYA · 2019 to 2021
$132k
NIAAA NIH HHS F31 AA027949NIMH NIH HHS R01 MH121074NIMH NIH HHS R01 MH123155NIMH NIH HHS R01 MH125579NIMH NIH HHS RM1 MH132648
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 impacting 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

Indexed as

alternative splicingdisease modelingGABAergic neuronsgenomicsglutamatergic neuronsHuman induced pluripotent stem cellsneuropsychiatric disorderNRXN1precision medicine

Identifiers

PMID37961635
PMCPMC10634884
OpenAlexW4388011104

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.