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 7/8/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 2,398 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 Sort ascending | First author | Preprint | Publication |
|---|---|---|---|
| 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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| Time to make rare disease diagnosis accessible to all | Heidi Rehm | PMID Nat Med |
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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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| The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants | Francesca Furia | DOI |
PMID Clinical Genetics |
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |
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| The Genetic Landscape of Familial Pulmonary Fibrosis | Qi Liu | PMID American Journal of Respiratory and Critical Care Medicine |
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| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
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| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |
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| Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases | Danny Miller | PMID J Med Genet. |
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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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| 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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| STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179 | Helmut Grasberger | PMID Nature Genetics |
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| Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia | Ophélie Gourgas | PMID Nat Commun |
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| Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking | Kym M Boycott | PMID Hum Mutat |