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 |
|---|---|---|---|
| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
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| Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder | Pérez Baca María Del Rocío | DOI |
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| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| Defining and Reducing Variant Classification Disparities | DOI |
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| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | Tanner Jensen, Bohan Ni | DOI |
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| Closing the gap: Solving complex medically relevant genes at scale | Medhat Mahmoud | DOI |
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| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
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| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets | Ben Weisburd | DOI |
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| Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA | Vijay Ganesh | DOI |
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| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | DOI |
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| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
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| Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures | Christopher M. Grochowski | DOI |
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| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |