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CIDR joins with clinical genomic expertise to form Johns Hopkins Genomics


Johns Hopkins Genomics is a joint effort of the McKusick-Nathans Institute of Genetic Medicine and the Department of Pathology at Johns Hopkins. Johns Hopkins Genomics combines research units including the Center for Inherited Disease Research (CIDR) and the Genetic Resources Core Facility (GRCF) with clinical operations including the DNA Diagnostic Laboratory and the Molecular Pathology Laboratory. Johns Hopkins Genomics is staffed with clinical molecular geneticists, bioinformaticists, statistical geneticists, clinical geneticists and molecular pathologists in a new building in the East Baltimore BioPark adjacent to the medical school campus.



Please visit our new interactive publications website to explore the breadth of CIDR Program funded studies.



Recent CIDR-Related Publications


A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Wu, Lang et al, Nature Genetics, 2018 June


Genome-wide mapping of global-to-local genetic effects on human facial shape

Claes, Peter et al, Nature Genetics, 2018 February


GAME-ON & OncoArray: An International Collaboration to Discover Cancer Genetic Risk Factors


Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, Roger L et al, Nature Letters, 2017 October


Association analysis identifies 65 new breast cancer risk loci

Michailidou, Kyriaki et al, Nature, 2017 October


Breast cancer genetics revealed: 72 new mutations discovered in global study

Susan Scutti, CNN, 2017 October


Imputation-Based Genomic Coverage Assessments of Current Genotyping Arrays:Illumina HumanCore, OmniExpress, Multi-Ethnic global array adn sub-arrays, Global Screening Array, Omni2.5M, Omni5, and Affymetrix UK Biobank

Nelson, Sarah C et al, bioRxiv, 2017 June


Identification of 12 New Susceptibility Loci for Different Haplotypes of Epithelial Ovarian Cancer

Phelan, Catherine M et al, Nature Genetics, 2017 May


Generating Exome Enriched Sequencing Libraries from formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing

Current Protocols in Human Genetics, 2017 January


Genome-Wide Association Analyses Identify New Susceptibility Loci for Oral Cavity and Pharyngeal Cancer

Lesseur, Corina et al, Nature Genetics, 2016 September


The Genetic Regulatory Signature of Type 2 Diabetes in Human Skeletal Muscle

Scott, Laura J. et al, Nature Communications, 2016 June



Recent dbGaP Postings


September 2018
Uncovering the Genetic Architecture of Colorectal Cancer with Focus of Rare and Less Frequent Variants


Center for Oral Health Research in Appalachia (COHRA) Genomic Studies of Oral Health and Disease


June 2018
CIDR Whole Exome Sequencing in Joubert Syndrome


May 2018
GECCO: Detecting Common and Rare Genetic Loci and GxE Interactions in Colorectal Cancer


March 2018
Genetics of Disorders Affecting Tooth Structure, Number, Morphology and Eruption


OncoArray: Prostate Cancer


February 2018
National Eye Institute (NEI) Exfoliation Genotyping Study



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photo of Statistical genestics staff


Statistical Genetics Staff Elizabeth Pugh, Hua Ling and Peng Zhang