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.
Click on column labels to sort the table accordingly.
| Title | First author | Preprint | Publication |
|---|---|---|---|
| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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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 |
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| Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | Andrew K Sobering | PMID Human Genetics and Genomics Advances |
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| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| Time to make rare disease diagnosis accessible to all | Heidi Rehm | PMID Nat Med |
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| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO | Tassos Grammatikopoulos | PMID Hepatology Communications |
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| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
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| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
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| Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder | Pérez Baca María Del Rocío | DOI |
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| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| Defining and Reducing Variant Classification Disparities | DOI |
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| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |
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| Closing the gap: Solving complex medically relevant genes at scale | Medhat Mahmoud | DOI |
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| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |