Publications
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 4/6/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 3,760 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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| Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models | PMID Am J Hum Genet |
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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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| Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B) | Danny Miller | PMID J Bone Miner Res. |
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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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| Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases | Danny Miller | PMID J Med Genet. |