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 |
|---|---|---|---|
| Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations | Sarah Stenton | DOI |
PMID Genetics in Medicine |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Yuyang Chen | DOI |
PMID Nature |
| Genome Sequencing for Diagnosing Rare Diseases | Monica H Wojcik | DOI |
PMID New England Journal of Medicine |
| Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | DOI |
PMID iScience |
| Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease | Gabrielle Lemire | DOI |
PMID American Journal of Human Genetics |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
PMID Human Genomics |
| KMT2E-Related Neurodevelopmental Disorder | Lynn Pais | PMID GeneReviews |
|
| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | María Del Rocío Pérez Baca | PMID Am J Hum Genet |
|
| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |
|
| 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 |
| 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 |
|
| HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Haowei Du, Zain Dardas, Angad Jolly | PMID Nucleic Acids Research |
|
| A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |
PMID Healthcare |
| Inferring compound heterozygosity from large-scale exome sequencing data | Michael Guo, Laurent Francioli | DOI |
PMID Nature Genetics |
| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |