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 |
|---|---|---|---|
| A genome-wide spectrum of tandem repeat expansions in 338,963 humans | Ya Cui | DOI |
PMID Cell |
| The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants | Francesca Furia | DOI |
PMID Clinical Genetics |
| CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | Takayasu Mori | DOI |
PMID Kidney International Reports |
| Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32 | Zain Dardas | DOI |
PMID Eur J Hum Genet |
| Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. | Javier A Muntadas | PMID Case Reports BCM Medical Genomics |
|
| Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement | Christy W LaFlamme | DOI |
PMID Nature Communications |
| A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants | Maria Carla Borroto | PMID Genes |
|
| Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation | PMID Ann Clin Transl Neurol |
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| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders | Julie Jurgens | DOI |
PMID Genetics in Medicine |
| 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 |
| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
PMID American Journal of Human Genetics |
| Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study | Elizabeth E. Blue | PMID Birth Defects Research |
|
| Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci | Christopher M. Grochowski | DOI |
PMID Cell Genom. |
| Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations | PMID Molecular Genetics and Genomics |