About the Core
The Biorepository Core comprises of a biobank core and biomarker services.
The services provided by the Biorepository Unit include:
- Storage of human cells, tissues, plasma, and other bodily fluid samples
- Provide cultured cell lines, purified genomic DNA, and RNA
- Next-generation sequencing techniques
- Expression arrays
- Epigenomic assays
- Array comparative genomic hybridization
Metabolomics studies for comprehensive profiling can be obtained through the Advanced Technological Core Labs
Check out recent publications using our core:
- Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S...Nagamani SCS, Lee BH. Am J Hum Genet. 2018 Aug 2;103(2):276-287.
- Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC...Stankiewicz P. Am J Hum Genet. 2014 Aug 7;95(2):173-82.
- Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS...van Haaften G. J Clin Invest. 2016 Aug 1;126(8):2881-92.
- Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M...Lee B, Bellen HJ, Wangler MF; Members of the UDN. PLoS Genet. 2017 Jul 24;13(7):e1006905.
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Harel T, Yoon WH, Garone C, Gu S...Bellen HJ, Lupski JR. Am J Hum Genet. 2016 Oct 6;99(4):831-845.