Evidence map›Paper›PMID 32066678›Full record

ReviewTranslational psychiatry2020

Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.

Martilias Farrell, Maya Lichtenstein, Matthew K Harner, James J Crowley, Dawn M Filmyer, Gabriel Lázaro-Muñoz, Tyler E Dietterich, Lisa M Bruno, Rita A Shaughnessy, Tamara F Biondi and 6 more

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
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

13 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025
    Article
  3. Article
  4. Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 2023
    Review
  10. Review
  11. Article
  12. Article
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 3 institutions in 2 countries.

Martilias FarrellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-9520-6209
Maya LichtensteinDepartment of Neurology, Geisinger Health System, Wilkes Barre, PA, USA.
Matthew K HarnerTranslational Neuroscience, Conshohocken, PA, USA.
James J CrowleyDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Dawn M FilmyerTranslational Neuroscience, Conshohocken, PA, USA.
Gabriel Lázaro-MuñozCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Tyler E DietterichTranslational Neuroscience, Conshohocken, PA, USA.
Lisa M BrunoTranslational Neuroscience, Conshohocken, PA, USA.
Rita A ShaughnessyTranslational Neuroscience, Conshohocken, PA, USA.
Tamara F BiondiDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Stephan BurkholderWernersville State Hospital, Wernersville, PA, USA.
Jane DonmoyerWernersville State Hospital, Wernersville, PA, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Jin SzatkiewiczDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Patrick F SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. rcjosiassen@gmail.com.
Richard C JosiassenTranslational Neuroscience, Conshohocken, PA, USA. pfsulliv@med.unc.edu.
University of North Carolina at Chapel Hill · USBaylor College of Medicine · USGeisinger Health System · US

Funding

Finding causal variants within schizophrenia risk lociR01MH106611 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SZATKIEWICZ, JIN PENG · 2015 to 2019
$3.3M
The Genomics of Highly Treatment Resistant SchizophreniaK01MH108894 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FARRELL, MARTILIAS STEPHEN · 2016 to 2019
$567k
Finding single-gene copy number variants in schizophreniaR21MH104831 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH, SZATKIEWICZ, JIN PENG · 2014 to 2015
$418k
NIMH NIH HHS K01 MH108894NIMH NIH HHS R01 MH106611NIMH NIH HHS R21 MH104831
6 · The paper itself

Abstract

The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.

Indexed as

Attention Deficit Disorder with HyperactivityIntellectual DisabilityPsychotic DisordersAdultChromosome AberrationsChromosomes, Human, Pair 15DNA Copy Number VariationsFemaleHumans

Identifiers

PMID32066678
PMCPMC7026068
OpenAlexW3004307487

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.