Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine
Published
2024-12-04
DOI
https://doi.org/10.1016/j.gim.2024.101253
Citations
3
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
1.65

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

Ying Zhu, Sateesh Maddirevula, Christiane Zweier, Mireia Coll-Tané et al.
3 citations
Genetics in Medicine
Genetics and Neurodevelopmental Disorders
1.65
article

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

Ying Zhu, Sateesh Maddirevula, Christiane Zweier, Mireia Coll-Tané, Rolph Pfundt, Maha Saad Zaki, Robyn D. Moir, Lesley C. Adès, Hoda Tomoum, Lachlan De Hayr, Anne Gregor, Annette Schenck, Alan Ma, Tony Roscioli, Victoria L. Harvey, Sarah Josephi‐Taylor, Katharina Steindl, Kerith‐Rae Dias, Anita M. Rauch, Michael Field, Futao Zhang, Julia Laube, Laura E.R. Blok, Gabriele Siegel, Anaïs Begemann, Carey‐Anne Evans, Jingyi Long, Ian M. Willis, André Reis, Reza Maroofian, Fowzan Sami Alkuraya, Martina Mocera, Joseph G. Gleeson, Michael F. Buckley, Markus Zweier, David A. Koolen, Mais Hashem
article en
3 citations

Abstract

These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.

Genetics in MedicineVol. 27(1)
Ain Shams University (EG), Albert Einstein College of Medicine (US), Children’s Institute (US), Riyadh Armed Forces Hospital (SA), Radboud University Nijmegen (NL), University of the Sunshine Coast (AU), Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), University of Zurich (CH), King Faisal Specialist Hospital & Research Centre (SA), Radboud University Medical Center (NL), Universitätsklinikum Erlangen (DE), National Human Genome Research Institute (US), Hunter Genetics (AU), Sunshine Coast University Hospital (AU), Prince of Wales Hospital (AU), Sydney Children's Hospital (AU), Sydney Children’s Hospitals Network (AU), University College London (GB), Neuroscience Research Australia (AU)
National Science Foundation, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, ZonMw, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Medical Research Council, National Health and Medical Research Council
Quality Education
Openalex Percentile: Top 14%
Genetics and Neurodevelopmental Disorders
1.65
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.