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 |
|---|---|---|---|
| Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Morad Ansari, Kamli Faour | DOI |
PMID Human Genetics and Genomics Advances |
| 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 |
| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
|
| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
| Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
|
| Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |
| 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 |
|
| Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA | Vijay Ganesh | DOI |
|
| 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 |
|
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Yuyang Chen | DOI |
|
| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |