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 |
|---|---|---|---|
| Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
| Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data | Moriel Singer-Berk | DOI |
PMID American Journal of Human Genetics |
| RARB-related cerebral palsy | PMID Genet Med |
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| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
|
| 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 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human Genetics |
| Advancing Understanding of Inequities in Rare Disease Genomics | Jillian Serrano | DOI |
PMID Clinical Therapeutics |
| Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |
|
| A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly | Moez Dawood | PMID American Journal of Medical Genetics Part A |
|
| Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain | Laura Keehan | PMID American Journal of Medical Genetics Part A |
|
| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models | Kiana Mohajeri | PMID American Journal of Human Genetics |
|
| Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis | Xuyu Qian | PMID Developmental Cell |
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| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats | Egor Dolzhenko | PMID Genome Medicine |
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| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |