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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
From variant to function in human disease genetics Tuuli Lappalainen PMID

Science
The landscape of regional missense mutational intolerance quantified from 125,748 exomes Katherine Chao, Lily Wang DOI
Defining and Reducing Variant Classification Disparities DOI
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Yuyang Chen DOI
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation DOI
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders Daniel Calame DOI
Candidate Gene Recommendations Jessica Chong DOI
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh DOI
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. DOI
Impact of genome build on RNA-seq interpretation and diagnostics Rachel Ungar DOI
Exome CNV detection, analysis and curation across Broad cohorts Gabrielle Lemire DOI
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures Christopher M. Grochowski DOI
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency Marina Villamor-Paya DOI
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Monica H Wojcik DOI
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project Sarah Stenton DOI
Displaying 31 to 45 of 46 total records