Evidence map›Paper›PMID 38293053›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra and 42 more

Abstract 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.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

52 authors.

Sissy BassaniCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0001-6800-8584
Jacqueline ChrastCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Giovanna AmbrosiniBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0003-1294-6541
Norine VoisinCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Frédéric SchützBiostatistics platform, University of Lausanne, Lausanne, Switzerland.
Alfredo BruscoDepartment of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.ORCID 0000-0002-8318-7231
Fabio SirchiaDepartment of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.ORCID 0000-0002-4598-2023
Lydia TurbanInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Susanna SchubertInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0003-2299-1311
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-1542-1399
Jan-Ulrich SchlumpDepartment of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.
Desiree DeMilleGenomics Analysis 396, ARUP Laboratories, Salt Lake City, Utah, USA.
Pinar Bayrak-ToydemirPediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Gary Rex NelsonPediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Kristen Nicole WongPediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Laura DuncanDepartment of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Mackenzie MoseraDepartment of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, Tennessee, USA.ORCID 0000-0003-1131-7946
Christian GilissenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-1693-9699
Lisenka E L M VissersDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0001-6470-5497
Rolph PfundtDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-0584-4398
Rogier KersseboomCenter for genetic developmental disorders southwest, Zuidwester, Middelharnis, The Netherlands.ORCID 0000-0002-7824-8941
Hilde YttervikDepartment of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Geir Åsmund Myge HansenDepartment of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Marie Falkenberg SmelandDepartment of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway.
Kameryn M ButlerGreenwood Genetic Center, Greenwood, South Carolina, USA.ORCID 0000-0001-6770-0026
Michael J LyonsGreenwood Genetic Center, Greenwood, South Carolina, USA.
Claudia M B CarvalhoPacific Northwest Research Institute (PNRI), Broadway, Seattle, Washington, USA.
Chaofan ZhangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0001-9907-9246
Lorraine PotockiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Leticia Flores-GallegosHospital Ángeles Puebla, Puebla, Mexico.
Rodrigo Morales-ToqueroHospital Ángeles Puebla, Puebla, Mexico.
Florence PetitCHU Lille, Clinique de génétique, F-59000 Lille, France.ORCID 0000-0002-1368-1023
Binnaz YalcinInserm UMR1231, University of Burgundy, 21000 Dijon, France.ORCID 0000-0002-1924-6807
Annabelle TuttleGeneDx, Gaithersburg, Maryland, USA.ORCID 0009-0005-3648-438X
Houda Zghal ElloumiGeneDx, Gaithersburg, Maryland, USA.
Lane MccormickDepartment of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, Texas, USA.
Mary KukolichDepartment of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, Texas, USA.ORCID 0000-0002-1184-6226
Oliver KlaasInstitute for Human Genetics, University Hospital Muenster, Muenster, Germany.ORCID 0000-0002-2954-3186
Judit HorvathInstitute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.ORCID 0000-0003-2194-7239
Michele IacominoMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID 0000-0003-4788-9719
Francesca OpertoChild and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.ORCID 0000-0002-2444-8761
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.ORCID 0000-0001-9744-5222
Karin WritzlClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID 0000-0003-0388-5361
Ales MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID 0000-0002-9826-0534
Maria K HaanpääDepartment of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.
Pia PohjolaDepartment of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.ORCID 0009-0005-9604-559X
Harri ArikkaDepartment of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland.
Christian IseliBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-2296-2863
Nicolas GuexBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0001-6023-0519
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0003-1030-8327

Funding

Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0M
NHGRI NIH HHS U01 HG011758NINDS NIH HHS R35 NS105078Wellcome Trust
6 · The paper itself

Abstract

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by Methods: Evolutionary constraints suggest that other mode-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be deleterious variants in Results: We identified an individual with a KINSSHIP-like phenotype carrying a Conclusions: Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in

Indexed as

exomehorseshoe kidneyintellectual disabilitymesomelic dysplasiatranscriptome

Identifiers

PMID38293053
PMCPMC10827271

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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.