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 Sort descending | Publication |
|---|---|---|---|
| Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort | Kerith-Rae Dias | PMID Genetics in Medicine |
|
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
|
| A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly | Moez Dawood | PMID American Journal of Medical Genetics Part A |
|
| RARB-related cerebral palsy | PMID Genet Med |
||
| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
|
| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
|
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats | Egor Dolzhenko | PMID Genome Medicine |
|
| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
|
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
|
| HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Haowei Du, Zain Dardas, Angad Jolly | PMID Nucleic Acids Research |
|
| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |
||
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
|
| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models | Kiana Mohajeri | PMID American Journal of Human Genetics |
|
| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
|
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |