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 Sort descending | Preprint | Publication |
|---|---|---|---|
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
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| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | DOI |
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| RARB-related cerebral palsy | PMID Genet Med |
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| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |
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| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |
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| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
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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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| Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures | Christopher M. Grochowski | 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 |
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| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease | Daniel Calame | DOI |
PMID American Journal of Human Genetics |
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats | Egor Dolzhenko | PMID Genome Medicine |
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| A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |
PMID Healthcare |
| Exome CNV detection, analysis and curation across Broad cohorts | Gabrielle Lemire | DOI |
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| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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| HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Haowei Du, Zain Dardas, Angad Jolly | PMID Nucleic Acids Research |