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.

This information was last compiled on 7/1/2026 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 4,285 papers. For more detailed publication metrics, please refer to GREGoR’s iCite results. Hover over the column headings for a definition of each of these: Total Pubs, Pubs Per Year, Cites Per Year, Relative Citation Ratio (RCR), Weighted RCR.

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Title	First author	Preprint	Publication	GREGoR Center(s) involved
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease	Daniel Calame	DOI 03/05/2023	PMID 08/03/2023 American Journal of Human Genetics	Baylor College of Medicine Research Center
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions Multi-site	Monica Wojcik	DOI 01/18/2023	PMID 08/03/2023 American Journal of Human Genetics	Baylor College of Medicine Research Center; Broad Institute; University of California, Irvine - GREGoR; GREGoR Stanford Site; University of Washington Center for Rare Disease Research; Data Coordinating Center
Advancing Understanding of Inequities in Rare Disease Genomics	Jillian Serrano	DOI 03/29/2023	PMID 07/28/2023 Clinical Therapeutics	Broad Institute
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.	Jessica Chong	DOI 03/09/2023	PMID 07/13/2023 Human Genetics and Genomics Advances	University of Washington Center for Rare Disease Research
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy	Joel A Morales-Rosado		PMID 06/01/2023 Am J Hum Genet	Broad Institute
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis	Seth Berger	DOI 05/17/2023	PMID 05/17/2023 Clinical Genetics	University of California, Irvine - GREGoR
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders	Afshin Saffari		PMID 02/09/2023 Brain	Baylor College of Medicine Research Center
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly	Moez Dawood		PMID 01/04/2023 American Journal of Medical Genetics Part A	Baylor College of Medicine Research Center
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain	Laura Keehan		PMID 12/01/2022 American Journal of Medical Genetics Part A	Broad Institute
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.	Valentina Serpieri		PMID 11/15/2022 Journal of Medical Genetics	University of Washington Center for Rare Disease Research
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models	Kiana Mohajeri		PMID 11/03/2022 American Journal of Human Genetics	Broad Institute
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis	Xuyu Qian		PMID 10/13/2022 Developmental Cell	Baylor College of Medicine Research Center
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability	Yan Huang		PMID 10/06/2022 Am J Hum Genet	Broad Institute
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models			PMID 10/06/2022 Am J Hum Genet	Broad Institute
GGPS1-associated muscular dystrophy with and without hearing loss	Rauan Kaiyrzhanov		PMID 09/15/2022 Ann Clin Transl Neurol	Broad Institute

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Publications