Evidence map›Paper›PMID 37425688›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Biallelic loss of function variants in

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha S Zaki, Joseph G Gleeson and 16 more

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

Article in medRxiv : the preprint server for health sciences, 2023. 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

26 authors at 11 institutions in 7 countries.

Eden EngalDepartment of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
Kaisa Teele OjaGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Reza MaroofianDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
Ophir GeminderDepartment of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
Thuy-Linh LeInstitute Imagine, Paris, France.
Evyatar MorDepartment of computer science, Ben-Gurion University of the Negev.
Naama TzviDepartment of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
Naama ElefantDepartment of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, Cairo, Egypt.
Joseph G GleesonDepartment of Neurosciences, University of California, San Diego, La Jolla, USA.
Kai MuruGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Sander PajusaluGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Monica H WojcikBroad Institute of MIT and Harvard, Cambridge, MA.
Divya PachatAster MIMS, Kozhikode, Kerala, India.
Marwa Abd ElmaksoudNeurology Unit, Alexandria University Children's Hospital, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Won Chan Jeong3billion, Seoul, Korea.
Hane Lee3billion, Seoul, Korea.
Peter BauerCENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.
Giovanni ZifarelliCENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
Orly ElpelegDepartment of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
Chris GordonInstitute Imagine, Paris, France.
Tamar HarelDepartment of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
Katrin ÕunapGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Maayan SaltonDepartment of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
Hagar Mor-ShakedDepartment of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
Hebrew University of Jerusalem · ILTartu University Hospital · EECentogene (Germany) · DEHadassah Medical Center · ILInstitut des Maladies Génétiques Imagine · FRNational Hospital for Neurology and Neurosurgery · GBAgricultural Genetic Engineering Research Institute · EGAlexandria University · EGBen-Gurion University of the Negev · ILBroad Institute · USChildren’s Institute · US

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
The Burden of Genetic Disorders in Infant MortalityK23HD102589 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI WOJCIK, MONICA HSIUNG · 2020 to 2024
$840k
NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K23 HD102589
6 · The paper itself

Abstract

Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. Ascertained through GeneMatcher we identified eleven patients from eight families, with a severe neurodevelopmental syndrome with variable manifestations. Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal and gastrointestinal abnormalities. Genetic analysis revealed overall five different homozygous loss-of-function variants in

Indexed as

pre-mRNA splicingspliceosomesyndromic neurodevelopmental disorderWBP4

Identifiers

PMID37425688
PMCPMC10327195
OpenAlexW4382197806

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.