Centers for Mendelian Genomics

The Centers for Mendelian Genomics (CMG) use genome-wide sequencing and other genomic approaches to discover the genetic basis underlying as many Mendelian traits as possible, and accelerate discoveries by disseminating the obtained knowledge and effective approaches, reaching out to individual investigators, and coordinating with other rare disease programs worldwide.

The CMG were funded from 2015-2021 are: the Baylor-Hopkins CMG, the Broad Institute CMG, the University of Washington CMG, and the Yale University CMG. Please direct inquiries about collaborations directly to the centers.

The CMGs contribute to the overall field of Mendelian genetics which has been responsible for many disease gene discoveries. For more information see the detailed Mendelian Traits by the Numbers report , list of phenotypes studied, and disease genes identified, by the CMGs and a listing of CMG presentations.

CMG Review and Flagship Papers

2022: https://www.gimjournal.org/article/S1098-3600(21)05464-2/fulltext

2019: https://www.nature.com/articles/s41436-018-0408-7

2015: http://www.ncbi.nlm.nih.gov/pubmed/26166479

Chosen as the Lead Article in AJHG Best of 2015 and 2016

2012: http://www.ncbi.nlm.nih.gov/pubmed/22628075

Learn more about the NHGRI Centers for Mendelian Genetics Program.

Follow @NHGRI_GSP

Date Last Modified: Wed, 02/09/2022 - 17:09

Highlighted Publications

Baxter et al. (2022). Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in medicine : official journal of the American College of Medical Genetics, S1098-3600(21)05464-2. Advance online publication. https://doi.org/10.1016/j.gim.2021.12.005

Dyment et al. (2020) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2020 Oct 24. doi: 10.1002/ajmg.a.61926. Online ahead of print.

Zhang et al. (2020) Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int. 2020 Oct;98(4):1020-10.

Gonzaga-Jauregui et al. (2020) Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 Sep;28(9):1243-1264.

Batzir et al. (2020) Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 41(3):641-654.

Gunning et al. (2020) Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 106(2):272-279.

Chen, W et al. (2020) "TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease." Human Mutation. 2020;41:182–195

Bahrambeigi V et al. (2019) "Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants." Genome Med. 2019 Dec 9;11:80. doi: 10.1186/s13073-019-0676-0.

Hansen, AW et al. (2019) "A Genocentric Approach to Discovery of Mendelian Disorders." Am J Hum Genet. 2019 Oct 16. Epub ahead of print.

Bamshad, M et al. (2019) "Mendelian Gene Discovery: Fast and Furious with No End in Sight." Am J Hum Genet. 2019 Sep 5;105(3):448-455.

Liu, P et al. (2019) "Reanalysis of Clinical Exome Sequencing Data." N Engl J Med. 2019 Jun 20;380(25):2478-2480.

Dharmadhikari, A et al. (2019) "Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases." Genome Med. 2019 May 17;11(1):30.

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