A list of publications citing one or more GREGoR grants, or listing the GREGoR Consortium as a banner author is available via this PubMed query.
This information was last compiled on 10/21/2024 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,001 papers. For more detailed publication metrics, please refer to GREGoR’s iCite results. Hover over the column headings for a definition of each of these: Total Pubs, Pubs Per Year, Cites Per Year, Relative Citation Ratio (RCR), Weighted RCR.
Click on column labels to sort the table accordingly.
| Title | First author | Preprint | Publication |
|---|---|---|---|
| Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain | Laura Keehan | PMID American Journal of Medical Genetics Part A |
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| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. | Valentina Serpieri | PMID Journal of Medical Genetics |
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| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models | Kiana Mohajeri | PMID American Journal of Human Genetics |
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| Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis | Xuyu Qian | PMID Developmental Cell |
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| The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability | Yan Huang | PMID Am J Hum Genet |
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| GGPS1-associated muscular dystrophy with and without hearing loss | Rauan Kaiyrzhanov | PMID Ann Clin Transl Neurol |
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| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats | Egor Dolzhenko | PMID Genome Medicine |
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| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
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| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
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| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
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| Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking | Kym M Boycott | PMID Hum Mutat |
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| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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| Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency | Yoel Gofin | PMID Hum Mutat. |
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| Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations | Sultan Cingoz | PMID European Journal of Medical Genetics |