Evidence map›Paper›PMID 39314366›Full record

ArticlebioRxiv : the preprint server for biology2024

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube, Wai-Man Chan, Brenda J Barry, Raehoon Jeong, Elisabeth Rothman, Mary C Whitman and 18 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

28 authors.

Julie A JurgensF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-4822-9384
Paola M Matos RuizDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Jessica KingDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, 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.
Wai-Man ChanF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Brenda J BarryF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Raehoon JeongDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Elisabeth RothmanDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Mary C WhitmanF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Sarah MacKinnonDepartment of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.
Cristina Rivera-QuilesDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Brandon M PrattDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Teresa EasterbrooksDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Fiona M MenschingDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Silvio Alessandro Di GioiaF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Lynn PaisProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Eleina M EnglandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Teresa de BerardinisDepartment of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University "Federico II", Naples, Italy.
Adriano MagliDepartment of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University "Federico II", Naples, Italy.
Feray KocDepartment of Ophthalmology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey.
Kazuhide AsakawaNeurobiology and Pathology Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.ORCID 0000-0003-0628-1176
Koichi KawakamiLaboratory of Molecular and Developmental Biology, National Institute of Genetics; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI).
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
David G HunterDepartment of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-4587-4794
Caroline D RobsonDivision of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
Martha L BulykBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Elizabeth C EngleF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.

Funding

The Harvard Clinical and Translational Science CenterUL1TR002541 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2018 to 2022
$93.0M
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 Hisashi Umemori · 2021 to 2026
$9.4M
Impact of Coding Variation on Transcription Factor - DNA Recognition_Diversity SupplementR01HG010501 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTHA L BULYK · 2019 to 2026
$6.9M
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
NCATS NIH HHS UL1 TR002541NEI NIH HHS K08 EY027850NEI NIH HHS R01 EY027421NEI NIH HHS R01 EY032539NEI NIH HHS T32 EY007145NHGRI NIH HHS R01 HG009141NHGRI NIH HHS R01 HG010501NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NICHD NIH HHS P50 HD105351NICHD NIH HHS R03 HD099358NIGMS 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 functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods: Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously identified variants in 80 strong candidate genes. Here, we further prioritized a subset of these (43 human genes, 57 zebrafish genes) using a G0 CRISPR/Cas9-based knockout assay in zebrafish and generated F2 germline mutants for seventeen. We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays. Results: We first demonstrated the feasibility of the G0 screen by targeting known oCCDD genes Conclusions: This study nominates three strong novel candidate oCCDD genes (

Identifiers

PMID39314366
PMCPMC11419015

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.