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 |
|---|---|---|---|
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
|
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
|
| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
|
| Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking | Kym M Boycott | PMID Hum Mutat |
|
| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
|
| 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 |
|
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
|
| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
|
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
|
| Defining and Reducing Variant Classification Disparities | DOI |
||
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
||
| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
|
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets | Ben Weisburd | DOI |
|
| Candidate Gene Recommendations | Jessica Chong | DOI |