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Publications

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.

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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
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
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
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing Jessica Chong DOI
PMID

Genetics in Medicine
Displaying 1 to 15 of 71 total records