Evidence map›Paper›PMID 38585811›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire and 31 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

41 authors at 2 institutions in 1 country.

Julie A JurgensF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-4822-9384
Brenda J BarryDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Wai-Man ChanF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Sarah MacKinnonDepartment of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.
Mary C WhitmanF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Paola M Matos RuizDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Brandon M PrattDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Eleina M EnglandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lynn PaisProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gabrielle LemireProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Emily GroopmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Carmen GlazeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kathryn A RussellProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Moriel Singer-BerkProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Silvio Alessandro Di GioiaF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Arthur S LeeF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Caroline AndrewsDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Sherin ShaabanF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Megan M WirthDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Sarah BekeleDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Melissa ToffoloniDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Victoria R BradfordDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Emma E FosterDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Lindsay BerubeDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Cristina Rivera-QuilesDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Fiona M MenschingDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Alba Sanchis-JuanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Isaac WongProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Xuefang ZhaoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Michael W WilsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ben WeisburdProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monkol LekProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ocular CCDD Phenotyping Consortium
Harrison BrandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Michael E TalkowskiDepartment of Neurology, Harvard Medical School, Boston, MA, USA.
Daniel G MacArthurProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Caroline D RobsonDivision of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
David G HunterDepartment of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.
Elizabeth C EngleF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0001-8194-7738
Broad Institute · USBoston Children's Hospital · US

Funding

VISION RESEARCHP30EY003790 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI Sunil K Chauhan · 1985 to 2026
$25.5M
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Supplement request for Training GrantT32NS007473 · NINDS · CHILDREN'S HOSPITAL BOSTON · PI Elizabeth C. Engle, Thomas L. Schwarz · 1999 to 2026
$6.9M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
Training Program in the Molecular Bases of Eye DiseasesT32EY007145 · NEI · SCHEPENS EYE RESEARCH INSTITUTE · PI Patricia Ann D'Amore, MEREDITH GREGORY-KSANDER · 1997 to 2026
$4.5M
Molecular mechanisms underlying strabismus riskR01EY032539 · NEI · BOSTON CHILDREN'S HOSPITAL · PI Mary Catherine Whitman · 2022 to 2026
$3.3M
Dissecting ocular congenital cranial dysinnervation disorders through whole genome sequence analysisR01EY027421 · NEI · BOSTON CHILDREN'S HOSPITAL · PI ENGLE, ELIZABETH C. · 2017 to 2021
$3.1M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumRF1MH115957 · NIMH · BROAD INSTITUTE, INC. · PI MICHAEL E TALKOWSKI · 2026 to 2026
$1.5M
NEI NIH HHS K08 EY027850NEI NIH HHS P30 EY003790NEI NIH HHS R01 EY027421NEI NIH HHS R01 EY032539NEI NIH HHS T32 EY007145NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NIDCR NIH HHS R00 DE026824NIGMS NIH HHS T32 GM007748NIMH NIH HHS R01 MH115957NIMH NIH HHS R56 MH115957NIMH NIH HHS RF1 MH115957NINDS NIH HHS T32 NS007473
6 · The paper itself

Abstract

Purpose: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and Results: Analyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43/467 probands (9.2%), and prioritized variants of uncertain significance in 70/467 additional probands (15.0%). These included known and novel variants in established oCCDD genes, genes associated with syndromes that sometimes include oCCDDs (e.g., Conclusion: This study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.

Identifiers

PMID38585811
PMCPMC10996726
OpenAlexW4393189795

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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.