Johns Hopkins University
Barbara Daily
Johns Hopkins University
600 North Wolfe Street, Blalock 1032
Baltimore, MD 21287
http://grcf.jhmi.edu
RRID: RRID:SCR_018669
Advanced Analytical Technologies, Inc. FEMTO Pulse Fragment Analyzer
The Femtopulse is a fragment analyzer that provides a pulsed-field power supply which allows large molecular weight DNA fragments to be separated and nucleic acids detected into the femtogram range. The ability to separate high molecular weight DNA up to 165 kb and detect nucleic acids down to 50 fg per µL input concentration make the Femto Pulse system ideal for long-read NGS QC, gDNA, small RNA, or cfDNA analysis from low concentration samples. [Product Link]
RRID:SCR_018058
Applied Biosystems 3730xl Capillary Genetic Sequencer
The Applied Biosystems 3730xl is a 96-capillary DNA Analyzer that performs DNA fragment analysis applications such as microsatellites, AFLP, SNP analysis, mutation detection and traditional DNA sequencing. Get the highest quality data at a low cost per sample. Higher optical sensitivity and advanced polymers enable you to obtain higher-quality sequencing data for less. Multiple automation features decrease costly human errors. Optimized polymers increase your productivity without compromising your results. Perform a wide variety of sequencing and fragment analysis applications including resequencing, microsatellite analysis, AFLP, LOH, SSCP, SNP screening and SNP validation. [Product Link]
RRID:SCR_018059
Applied Biosystems 7900HT Fast Real-Time PCR System
The Applied Biosystems 7900HT is a real-time quantitative PCR system that combines 96- and 384-well plate compatibility and the TaqMan® Low Density Array with fully automated robotic loading-and now also offers optional Fast real-time PCR capability. The 7900HT System is a high-throughput real-time PCR system that detects and quantitates nucleic acid sequences. The Applied Biosystems 7900HT Fast Real-Time PCR System (7900HT Fast System) uses fluorescent-based PCR chemistries to provide: Quantitative detection of nucleic acid sequences using real-time analysis and Qualitative detection of nucleic acid sequences using end-point and dissociation-curve analysis. [Product Link]
RRID:SCR_018060
Hamilton StarPlus Automated Liquid Handler
Liquid handling robot with 8 channel pipetting arm, dual HEPA filter top, and 96 channel pipeting head with 1ml capacity. It can have tube racks, microplate racks, and 50mL temperature controlled tube rack. [Product Link]
RRID:SCR_018582
Life Technologies Countess Automated Cell Counter
Automated cell counter that can perform cell counts, viability calculations, hemocytometry, fluorescent protein expression, and measure fluorescence capabilities. There are also reusable slides, fluorescence capabilities, and brightfield fluorescence channels. [Product Link]
RRID:SCR_018591
Qiagen QIAcube DNA/RNA Protein Purification System
Protein purification system that performs fully automated purification of nucleic acids and proteins in molecular biology applications. [Product Link]
RRID:SCR_018618
Thermo Scientific Nanodrop 1000 Spectrophotometer
The Thermo Scientific NanoDrop™ 1000 is a spectrophotometer that performs measuring of 1 ul samples with high accuracy and reproducibility. The full spectrum (220nm-750nm) spectrophotometer utilizes a patented sample retention technology that employs surface tension alone to hold the sample in place. This eliminates the need for cumbersome cuvettes and other sample containment devices and allows for clean up in seconds. In addition, the NanoDrop 1000 Spectrophotometer has the capability to measure highly concentrated samples without dilution (50X higher concentration than the samples measured by a standard cuvette spectrophotometer). [Product Link]
RRID:SCR_018035
(Equipment No Longer Active At this Facility)
Illumina NovoSeq6000
QIAGEN QIAcuity dPCR system
Illumina iScan
DNA AnalyzerMycoDTect DNA-array (Greiner, Bio-One)
Illumina Genome Analyzer IIx
Formulatrix Constellation Digital PCR Instrument
Qiagen Pyromark Q48 pyrosequencer
Applied Biosystems QuantStudio 12Kflex
Qiagen QIAcuity Digital PCR instrument
Illumina NovaSeq6000
Illumina HiSeq2500
10x Genomics Chromium Platform
Taylor Warton LABS LN2 vapor phase freezer
MVE Vario LN2 vapor phase storage freezer
MVE High Efficiency LN2 vapor phase freezer
Applied Biosystems Veriti Thermocycler
Perkin Elmer MSM I DNA extractor
Integra Biosciences VIAFLO 96
Spectramax Gemini XS UV plate reader
Illumina Miseq
Oxford Nanopore GridION
Vi-Cell XR
Sorvall Legend STR Centrifuge
MicroCL21 Centrifuge
Nikon TMS Microscope
VWR Inverted Microscope
Forma Series II Water Jacketed CO2 Incubators
10x Genomics
Assay Development
Assays and Measurements
BioBanking
Biorepository
Bioshipping
Bisulfite Conversion
Blood Processing
Capillary Electrophoresis
CDNA Synthesis
Cell Culture
Cell Line Authentication
Cell Lines For SARS-CoV-2 Research
Central Laboratory Supply
ChIP-Seq
Clinical Trial Support
Consultations
Copy Number Variation (CNV)
Digital PCR
DNA Analysis
DNA Isolation
FFPE Na Isolation
FFPE Restore
Gene Expression Arrays
Genomics
Genotyping
Genotyping-by-sequencing
High Content Screening
Imputation
Long Read Sequencing
Methylation Analysis
Micro RNA Profiling
Microarray
Microbiome
Molecular Library Services
Mycoplasma Detection
Nanopore Sequencing
Non - Human Genotyping
Nucleic Acid Extraction
oligo synthesis
ONT Sequencing
OpenArray
PCR Arrays
Pyrosequencing
Real-time qPCR
Repository
RNA analysis
RNA Integrity
RNA Isolation
RNAseq
Sample Preparation
Sequencing - Capillary Sequencing
Sequencing - DNA Sequencing
Sequencing - Next Generation Sequencing (NGS)
Sequencing - Pyrosequencing
Single-cell Sequencing
Targeted Methylation Analysis
Tissue Culture
Whole Exome Sequencing
Whole Genome Amplification (WGA)
Whole Genome Arrays
Whole Genome Sequencing
1.) Scott AF, Mohr DW, Littrell WA, Babu R, Kokosinski M, Stinnett V, Madhiwala J, Anderson J, Zou YS, Gabrielson KL (2024 Sep 26). Characterization of the Rat Osteosarcoma Cell Line UMR-106 by Long-Read Technologies Identifies a Large Block of Amplified Genes Associated with Human Disease Genes, 15(10), 1254. . PMCID: 11507229.
2.) Guinn S, Kinny-Köster B, Tandurella JA, Mitchell JT, Sidiropoulos DN, Loth M, Lyman MR, Pucsek AB, Zabransky DJ, Lee JW, Kartalia E, Ramani M, Seppälä TT, Cherry C, Suri R, Zlomke H, Patel J, He J, Wolfgang CL, Yu J, Zheng L, Ryan DP, Ting DT, Kimmelman A, Gupta A, Danilova L, Elisseeff JH, Wood LD, Stein-O’Brien G, Kagohara LT, Jaffee EM, Burkhart RA, Fertig EJ, Zimmerman JW (2024 May 2). Transfer learning reveals cancer-associated fibroblasts are associated with epithelial-mesenchymal transition and inflammation in cancer cells in pancreatic ductal adenocarcinoma Cancer research, 84(9), 1517-1533. . PMCID: 11065624.
3.) Nguyen H, Lin C, Bell K, Huang A, Hannum M, Ramirez V, Christensen C, Rawson NE, Colquitt L, Domanico P, Sasimovich I, Herriman R, Joseph P, Braimah O, Reed DR (2024 Apr 28). Worldwide study of the taste of bitter medicines and their modifiers bioRxiv, (), 2024.04.24.590957. . PMCID: 11071635.
4.) Hart WS, Myers PJ, Purow BW, Lazzara MJ (2024 Feb 9). Divergent transcriptomic signatures from putative mesenchymal stimuli in glioblastoma cells. Cancer gene therapy, (), . doi: 10.1038/s41417-023-00724-w. PMID: 38337036.
5.) Halasz L, Divoux A, Sandor K, Erdos E, Daniel B, Smith SR, Osborne TF (2023 Dec 28). An Atlas of Promoter Chromatin Modifications and HiChIP Regulatory Interactions in Human Subcutaneous Adipose-Derived Stem Cells. International journal of molecular sciences, 25(1), . . PMID: 38203607.
6.) Edwardson MA, Shivapurkar N, Li J, Khan M, Smith J, Giannetti ML, Fan R, Dromerick AW (2023 Dec). Expansion of plasma MicroRNAs over the first month following human stroke. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 43(12), 2130-2143. . PMID: 37694957.
7.) Wilson JL, Akin E, Zhou R, Jedlicka A, Dziedzic A, Liu H, Fenstermacher KZ, Rothman RE, Pekosz A (2023 Sep 20). The Influenza B Virus Victoria and Yamagata Lineages Display Distinct Cell Tropism and Infection-Induced Host Gene Expression in Human Nasal Epithelial Cell Cultures Viruses, 15(9), 1956. . PMCID: 10537232.
8.) Wilson JL, Akin E, Zhou R, Jedlicka A, Dziedzic A, Liu H, Fenstermacher KZ, Rothman R, Pekosz A (2023 Aug 4). The Influenza B Virus Victoria and Yamagata Lineages Display Distinct Cell Tropism and Infection Induced Host Gene Expression in Human Nasal Epithelial Cell Cultures bioRxiv, (), 2023.08.04.551980. . PMCID: 10418153.
9.) Resnick JD, Wilson JL, Anaya E, Conte A, Li M, Zhong W, Beer MA, Pekosz A (2023 Aug 2). Growth media affects susceptibility of air-lifted human nasal epithelial cell cultures to SARS-CoV2, but not Influenza A, virus infection bioRxiv, (), 2023.07.31.551381. . PMCID: 10418194.
10.) Yeung-Luk BH, Narayanan GA, Ghosh B, Wally A, Lee E, Mokaya M, Wankhade E, Zhang R, Lee B, Park B, Resnick J, Jedlicka A, Dziedzic A, Ramanathan M, Biswal S, Pekosz A, Sidhaye VK (2023 Jul 28). SARS-CoV-2 infection alters mitochondrial and cytoskeletal function in human respiratory epithelial cells mediated by expression of spike protein mBio, 14(4), e00820-23. . PMCID: 10470579.
11.) Killian JT, King RG, Kizziah JL, Fucile CF, Diaz-Avalos R, Qiu S, Silva-Sanchez A, Mousseau BJ, Macon KJ, Callahan AR, Yang G, Hossain ME, Akther J, Houp JA, Rosenblum FD, Porrett PM, Ong SC, Kumar V, Saphire EO, Kearney JF, Randall TD, Rosenberg AF, Green TJ, Lund FE (2023 Jun 24). B cell and antibody targeting of transplant alloantigen epitopes is supported by both self and allo-recognition. bioRxiv : the preprint server for biology, (), . . PMID: 37034637.
12.) Nidadavolu LS, Cosarderelioglu C, Merino Gomez A, Wu Y, Bopp T, Zhang C, Nguyen T, Marx-Rattner R, Yang H, Antonescu C, Florea L, Talbot CC, Smith B, Foster DB, Fairman JE, Yenokyan G, Chung T, Le A, Walston JD, Abadir PM (2023 Jun 13). Interleukin-6 Drives Mitochondrial Dysregulation and Accelerates Physical Decline: Insights From an Inducible Humanized IL-6 Knock-In Mouse Model The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 78(10), 1740-1752. . PMCID: 10562892.
13.) Resnick JD, Beer MA, Pekosz A (2023 Mar 18). Early Transcriptional Responses of Human Nasal Epithelial Cells to Infection with Influenza A and SARS-CoV-2 Virus Differ and Are Influenced by Physiological Temperature Pathogens, 12(3), 480. . PMCID: 10051809.
14.) Resnick JD, Beer MA, Pekosz A (2023 Mar 9). Early transcriptional responses of human nasal epithelial cells to infection with Influenza A and SARS-CoV-2 virus differ and are influenced by physiological temperature bioRxiv, (), 2023.03.07.531609. . PMCID: 10028862.
15.) Liu S, Fu H, Ray M, Heinsberg LW, Conley YP, Anderson CM, Hubel CA, Roberts JM, Jeyabalan A, Weeks DE, Schmella MJ (2023 Jan 26). A longitudinal epigenome-wide association study of preeclamptic and normotensive pregnancy Epigenetics communications, 3(1), 1. . PMCID: 10101051.
16.) Romero JC, Berlinicke C, Chow S, Duan Y, Wang Y, Chamling X, Smirnova L (2023 Jan 19). Oligodendrogenesis and myelination tracing in a CRISPR/Cas9-engineered brain microphysiological system Frontiers in Cellular Neuroscience, 16(), 1094291. . PMCID: 9893511.
17.) Song AY, Bakulski K, Feinberg JI, Newschaffer C, Croen LA, Hertz-Picciotto I, Schmidt RJ, Farzadegan H, Lyall K, Fallin MD, Volk HE, Ladd-Acosta C (2022 Dec). Associations between accelerated parental biologic age, autism spectrum disorder, social traits, and developmental and cognitive outcomes in their children. Autism research : official journal of the International Society for Autism Research, 15(12), 2359-2370. . PMID: 36189953.
18.) Veltri AJ, D'Orazio KN, Lessen LN, Loll-Krippleber R, Brown GW, Green R (2022 Jul 27). Distinct elongation stalls during translation are linked with distinct pathways for mRNA degradation. eLife, 11(), . . PMID: 35894211.
19.) Melendez JH, Hardick J, Onzia A, Yu T, Kyambadde P, Parkes-Ratanshi R, Nakku-Joloba E, Kiragga A, Manabe YC, Hamill MM (2022 Apr 27). Retrospective Analysis of Ugandan Men with Urethritis Reveals Mycoplasma genitalium and Associated Macrolide Resistance. Microbiology spectrum, 10(2), e0230421. doi: 10.1128/spectrum.02304-21. PMID: 35412392.
20.) Creisher PS, Lei J, Sherer ML, Dziedzic A, Jedlicka AE, Narasimhan H, Chudnovets A, Campbell AD, Liu A, Pekosz A, Burd I, Klein SL (2022 Feb 22). Downregulation of transcriptional activity, increased inflammation, and damage in the placenta following in utero Zika virus infection is associated with adverse pregnancy outcomes Frontiers in virology, 2(), 782906. . PMCID: 9104602.
21.) Castiglione GM, Zhou L, Xu Z, Neiman Z, Hung CF, Duh EJ (2021 Dec). Evolutionary pathways to SARS-CoV-2 resistance are opened and closed by epistasis acting on ACE2. PLoS biology, 19(12), e3001510. doi: 10.1371/journal.pbio.3001510. PMID: 34932561.
22.) Shifera AS, Pockrandt C, Rincon N, Ge Y, Lu J, Varabyou A, Jedlicka AE, Sun K, Scott AL, Eberhart C, Thorne JE, Salzberg SL (2021 Aug 17). Identification of microbial agents in tissue specimens of ocular and periocular sarcoidosis using a metagenomics approach F1000Research, 10(), 820. . PMCID: 9515606.
23.) Christodoulou I, Rahnama R, Ravich JW, Seo J, Zolov SN, Marple AN, Markovitz DM, Bonifant CL (2021). Glycoprotein Targeted CAR-NK Cells for the Treatment of SARS-CoV-2 Infection. Frontiers in immunology, 12(), 763460. doi: 10.3389/fimmu.2021.763460. PMID: 35003077.
24.) Cuellar A, Bala K, Di Pietro L, Barba M, Yagnik G, Liu JL, Stevens C, Hur DJ, Ingersoll RG, Justice CM, Drissi H, Kim J, Lattanzi W, Boyadjiev SA (2020 Aug). Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis. Bone, 137(), 115395. . ID: 32360898.
25.) Bian Q, Cheng YH, Wilson JP, Su EY, Kim DW, Wang H, Yoo S, Blackshaw S, Cahan P (2020 Jul 20). A single cell transcriptional atlas of early synovial joint development. Development (Cambridge, England), 147(14), . . ID: 32580935.
26.) Humble E, Dobrynin P, Senn H, Chuven J, Scott AF, Mohr DW, Dudchenko O, Omer AD, Colaric Z, Lieberman Aiden E, Al Dhaheri SS, Wildt D, Oliaji S, Tamazian G, Pukazhenthi B, Ogden R, Koepfli KP (2020 May 4). Chromosomal-level genome assembly of the scimitar-horned oryx: Insights into diversity and demography of a species extinct in the wild. Molecular ecology resources, (), . doi: 10.1111/1755-0998.13181. ID: 32365406.
27.) Heng JS, Hackett SF, Stein-O (2019 Dec 16). Comprehensive analysis of a mouse model of spontaneous uveoretinitis using single-cell RNA sequencing. Proceedings of the National Academy of Sciences of the United States of America, (), . . ID: 31843893.
28.) Daya M, Rafaels N, Brunetti TM, Chavan S, Levin AM, Shetty A, Gignoux CR, Boorgula MP, Wojcik G, Campbell M, Vergara C, Torgerson DG, Ortega VE, Doumatey A, Johnston HR, Acevedo N, Araujo MI, Avila PC, Belbin G, Bleecker E, Bustamante C, Caraballo L, Cruz A, Dunston GM, Eng C, Faruque MU, Ferguson TS, Figueiredo C, Ford JG, Gan W, Gourraud PA, Hansel NN, Hernandez RD, Herrera-Paz EF, Jiménez S, Kenny EE, Knight-Madden J, Kumar R, Lange LA, Lange EM, Lizee A, Maul P, Maul T, Mayorga A, Meyers D, (2019 Sep 4). Author Correction: Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations. Nature communications, 10(1), 4082. doi: 10.1038/s41467-019-12158-w. ID: 31484942.
29.) Heng JS, Rattner A, Stein-O (2019 Apr 30). Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution. Proceedings of the National Academy of Sciences of the United States of America, 116(18), 9103-9114. . ID: 30988181.
30.) Daya M, Rafaels N, Brunetti TM, Chavan S, Levin AM, Shetty A, Gignoux CR, Boorgula MP, Wojcik G, Campbell M, Vergara C, Torgerson DG, Ortega VE, Doumatey A, Johnston HR, Acevedo N, Araujo MI, Avila PC, Belbin G, Bleecker E, Bustamante C, Caraballo L, Cruz A, Dunston GM, Eng C, Faruque MU, Ferguson TS, Figueiredo C, Ford JG, Gan W, Gourraud PA, Hansel NN, Hernandez RD, Herrera-Paz EF, Jiménez S, Kenny EE, Knight-Madden J, Kumar R, Lange LA, Lange EM, Lizee A, Maul P, Maul T, Mayorga A, Meyers D, (2019 Feb 20). Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations. Nature communications, 10(1), 880. doi: 10.1038/s41467-019-08469-7. ID: 30787307.
31.) Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury BL, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chi (2019 Jan). Discovery of common and rare genetic risk variants for colorectal cancer. Nature genetics, 51(1), 76-87. doi: 10.1038/s41588-018-0286-6. ID: 30510241.
32.) Myers VD, Gerhard GS, McNamara DM, Tomar D, Madesh M, Kaniper S, Ramsey FV, Fisher SG, Ingersoll RG, Kasch-Semenza L, Wang J, Hanley-Yanez K, Lemster B, Schwisow JA, Ambardekar AV, Degann SH, Bristow MR, Sheppard R, Alexis JD, Tilley DG, Kontos CD, McClung JM, Taylor AL, Yancy CW, Khalili K, Seidman JG, Seidman CE, McTiernan CF, Cheung JY, Feldman AM (2018 Oct 1). Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals. JAMA cardiology, 3(10), 929-938. . ID: 30140897.
33.) Ferrer M, Gosline SJC, Stathis M, Zhang X, Guo X, Guha R, Ryman DA, Wallace MR, Kasch-Semenza L, Hao H, Ingersoll R, Mohr D, Thomas C, Verma S, Guinney J, Blakeley JO (2018 Jun 12). Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. Scientific data, 5(10), 180106. doi: 10.1126/sciadv.aat2980. ID: 29893754.
34.) Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, Danilova L, Applegate CD, Bolton SG, Mohr DW, Brodsky RA, Casella JF, Greider CW, Jackson JB, Armanios M (2018 Mar 6). Diagnostic utility of telomere length testing in a hospital-based setting. Proceedings of the National Academy of Sciences of the United States of America, 115(10), E2358-E2365. doi: 10.1111/1755-0998.13181. ID: 29463756.
35.) Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE (2017 Sep). Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. Molecular genetics & genomic medicine, 5(5), 570-579. doi: 10.1002/mgg3.320. ID: 28944239.
36.) McCall MN, Baras AS, Crits-Christoph A, Ingersoll R, McAlexander MA, Witwer KW, Halushka MK (2016 Mar 22). A benchmark for microRNA quantification algorithms using the OpenArray platform. BMC bioinformatics, 17(6), 138. doi: 10.1186/s12859-016-0987-8. ID: 27000067.
37.) Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW (2014 Oct). Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. JAMA ophthalmology, 132(10), 1215-20. doi: 10.1186/s12859-016-0987-8. ID: 24993872.
38.) Scott AF, Mohr DW, Ling H, Scharpf RB, Zhang P, Liptak GS (2014 May 12). Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma. Genes, 5(2), 366-84. doi: 10.1111/1755-0998.13181. ID: 24823478.
39.) Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP (2014 Mar 4). Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nature communications, 5(2), 3416. doi: 10.1111/1755-0998.13181. ID: 24595103.
40.) Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stančáková A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, Ingersoll R, Pugh EW, Doheny KF, Neale BM, Daly MJ, Kuusisto J, Scott LJ, Kang HM, Collins FS, Abecasis GR, Watanabe RM, Boehnke M, Laakso M, Mohlke KL (2013 Feb). Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nature genetics, 45(2), 197-201. doi: 10.1186/s12859-016-0987-8. ID: 23263489.
41.) Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC (2012 Nov). Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature genetics, 44(11), 1249-54. doi: 10.1111/1755-0998.13181. ID: 23023332.
42.) Arav-Boger R, Wojcik GL, Duggal P, Ingersoll RG, Beaty T, Pass RF, Yolken RH (2012 Mar 13). Polymorphisms in Toll-like receptor genes influence antibody responses to cytomegalovirus glycoprotein B vaccine. BMC research notes, 5(4), 140. doi: 10.1371/journal.pone.0034426. ID: 22414065.
43.) Wu T, Fallin MD, Shi M, Ruczinski I, Liang KY, Hetmanski JB, Wang H, Ingersoll RG, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Murray JC, Marazita ML, Munger RG, Beaty TH (2012 Feb). Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. Birth defects research. Part A, Clinical and molecular teratology, 94(2), 76-83. doi: 10.1002/bdra.22885. ID: 22241686.
44.) Ghosh S, Hossain MZ, Borges M, Goggins MG, Ingersoll RG, Eshleman JR, Klein AP, Kern SE (2012). Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies. PloS one, 7(4), e34426. doi: 10.1371/journal.pone.0034426. ID: 22496803.
45.) Stein BL, Williams DM, O (2011 Oct). Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. Haematologica, 96(10), 1462-9. doi: 10.1002/bdra.22885. ID: 21712540.
46.) McLean RC, Hirsch GA, Becker LC, Kasch-Semenza L, Gerstenblith G, Schulman SP (2011 Jun). Polymorphisms of the beta adrenergic receptor predict left ventricular remodeling following acute myocardial infarction. Cardiovascular drugs and therapy, 25(3), 251-8. doi: 10.1007/s10557-011-6307-7. ID: 21626217.
47.) Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, Wang H, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Beaty TH (2010 Oct). Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate. Human genetics, 128(4), 401-10. doi: 10.1007/s00439-010-0863-y. ID: 20652317.
48.) Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH (2010 Jun). Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. European journal of human genetics : EJHG, 18(6), 726-32. doi: 10.1007/s00439-010-0863-y. ID: 20087401.
49.) Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, Maul T, Jedlicka AE, Murray T, Hetmanski JB, Ashworth R, Ongaco CM, Hetrick KN, Doheny KF, Pugh EW, Rotimi CN, Ford J, Eng C, Burchard EG, Sleiman PM, Hakonarson H, Forno E, Raby BA, Weiss ST, Scott AF, Kabesch M, Liang L, Abecasis G, Moffatt MF, Cookson WO, Ruczinski I, Beaty TH, (2010 Feb). A genome-wide association study on African-ancestry populations for asthma. The Journal of allergy and clinical immunology, 125(2), 336-346.e4. doi: 10.1089/AID.2010.0346. ID: 19910028.
50.) Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS (2009 Dec). Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. The Journal of pediatrics, 155(6), 854-859.e1. . ID: 19647838.
51.) Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH (2009 Sep). Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. Human genetics, 126(3), 385-94. doi: 10.1007/s00439-009-0680-3. ID: 19444471.
52.) Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH (2009 Jun). Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. European journal of human genetics : EJHG, 17(6), 831-9. doi: 10.1371/journal.pone.0004668. ID: 19142206.
53.) Kijas JW, Townley D, Dalrymple BP, Heaton MP, Maddox JF, McGrath A, Wilson P, Ingersoll RG, McCulloch R, McWilliam S, Tang D, McEwan J, Cockett N, Oddy VH, Nicholas FW, Raadsma H (2009). A genome wide survey of SNP variation reveals the genetic structure of sheep breeds. PloS one, 4(3), e4668. doi: 10.1371/journal.pone.0004668. ID: 19270757.
54.) Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH (2008 Sep 15). Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. American journal of medical genetics. Part A, 146(18), 2327-31. doi: 10.1002/ajmg.a.32302. ID: 18688869.
55.) Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Jung E, Ruczinski I, Scott AF, Beaty TH (2008 Sep). Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations. Genetic epidemiology, 32(6), 505-12. doi: 10.1002/gepi.20323. ID: 18357615.
56.) Herrera-Galeano JE, Becker DM, Wilson AF, Yanek LR, Bray P, Vaidya D, Faraday N, Becker LC (2008 Aug). A novel variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability. Arteriosclerosis, thrombosis, and vascular biology, 28(8), 1484-90. doi: 10.1002/ajh.21859. ID: 18511696.
57.) Gregorc V, Hidalgo M, Spreafico A, Cusatis G, Ludovini V, Ingersoll RG, Marsh S, Steinberg SM, Viganò MG, Ghio D, Villa E, Sparreboom A, Baker SD (2008 Mar). Germline polymorphisms in EGFR and survival in patients with lung cancer receiving gefitinib. Clinical pharmacology and therapeutics, 83(3), 477-84. doi: 10.1002/gepi.20323. ID: 17713473.
58.) Bray PF, Mathias RA, Faraday N, Yanek LR, Fallin MD, Herrera-Galeano JE, Wilson AF, Becker LC, Becker DM (2007 Aug). Heritability of platelet function in families with premature coronary artery disease. Journal of thrombosis and haemostasis : JTH, 5(8), 1617-23. doi: 10.1002/ajh.21859. ID: 17663734.
59.) Berthier-Schaad Y, Kao WH, Coresh J, Zhang L, Ingersoll RG, Stephens R, Smith MW (2007 Aug). Reliability of high-throughput genotyping of whole genome amplified DNA in SNP genotyping studies. Electrophoresis, 28(16), 2812-7. . ID: 17702060.
60.) Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, Chen PK, Chong SS, Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH (2007 Apr). Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genetics in medicine : official journal of the American College of Medical Genetics, 9(4), 219-27. . ID: 17438386.
61.) Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE (2007 Mar 29). Telomerase mutations in families with idiopathic pulmonary fibrosis. The New England journal of medicine, 356(13), 1317-26. . ID: 17392301.
62.) Cusatis G, Gregorc V, Li J, Spreafico A, Ingersoll RG, Verweij J, Ludovini V, Villa E, Hidalgo M, Sparreboom A, Baker SD (2006 Dec 6). Pharmacogenetics of ABCG2 and adverse reactions to gefitinib. Journal of the National Cancer Institute, 98(23), 1739-42. . ID: 17148776.
63.) Chi PB, Duggal P, Kao WH, Mathias RA, Grant AV, Stockton ML, Garcia JG, Ingersoll RG, Scott AF, Beaty TH, Barnes KC, Fallin MD (2006 Nov). Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population. Genetic epidemiology, 30(7), 609-19. . ID: 16830339.
64.) Barnes KC, Grant AV, Baltadzhieva D, Zhang S, Berg T, Shao L, Zambelli-Weiner A, Anderson W, Nelsen A, Pillai S, Yarnall DP, Dienger K, Ingersoll RG, Scott AF, Fallin MD, Mathias RA, Beaty TH, Garcia JG, Wills-Karp M (2006 Jan). Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families. Genes and immunity, 7(1), 27-35. . ID: 16355111.
65.) Lepper ER, Baker SD, Permenter M, Ries N, van Schaik RH, Schenk PW, Price DK, Ahn D, Smith NF, Cusatis G, Ingersoll RG, Bates SE, Mathijssen RH, Verweij J, Figg WD, Sparreboom A (2005 Oct 15). Effect of common CYP3A4 and CYP3A5 variants on the pharmacokinetics of the cytochrome P450 3A phenotyping probe midazolam in cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research, 11(20), 7398-404. . ID: 16243813.
66.) Resar JR, Roguin A, Voner J, Nasir K, Hennebry TA, Miller JM, Ingersoll R, Kasch LM, Semenza GL (2005 Aug). Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease. Chest, 128(2), 787-91. . ID: 16100168.
67.) Faraday N, Martinez EA, Scharpf RB, Kasch-Semenza L, Dorman T, Pronovost PJ, Perler B, Gerstenblith G, Bray PF, Fleisher LA (2004 Dec). Platelet gene polymorphisms and cardiac risk assessment in vascular surgical patients. Anesthesiology, 101(6), 1291-7. doi: 10.1007/s10557-011-6307-7. ID: 15564935.
68.) Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C (2002 Sep). Genetic and environmental risk factors for sagittal craniosynostosis. The Journal of craniofacial surgery, 13(5), 602-6. . ID: 12218784.
69.) Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW (2002). Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenetic and genome research, 98(1), 29-37. . ID: 12584438.
70.) Holmes SE, O (2001 Dec). A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nature genetics, 29(4), 377-8. . ID: 11694876.
71.) Holmes SE, O (1999 Dec). Expansion of a novel CAG trinucleotide repeat in the 5 Nature genetics, 23(4), 391-2. . ID: 10581021.
72.) Breschel TS, McInnis MG, Margolis RL, Sirugo G, Corneliussen B, Simpson SG, McMahon FJ, MacKinnon DF, Xu JF, Pleasant N, Huo Y, Ashworth RG, Grundstrom C, Grundstrom T, Kidd KK, DePaulo JR, Ross CA (1997 Oct). A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Human molecular genetics, 6(11), 1855-63. . ID: 9302263.
73.) Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ (1997 Jan 10). A paternally derived inverted duplication of 7q with evidence of a telomeric deletion. American journal of medical genetics, 68(1), 76-81. . ID: 8986281.
74.) Margolis RL, Stine OC, McInnis MG, Ranen NG, Rubinsztein DC, Leggo J, Brando LV, Kidwai AS, Loev SJ, Breschel TS, Callahan C, Simpson SG, DePaulo JR, McMahon FJ, Jain S, Paykel ES, Walsh C, DeLisi LE, Crow TJ, Torrey EF, Ashworth RG, Macke JP, Nathans J, Ross CA (1996 May). cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Human molecular genetics, 5(5), 607-16. . ID: 8733127.
75.) Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA (1996 Mar). DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. Brain research. Molecular brain research, 36(2), 219-26. . ID: 8965642.
76.) Loev SJ, Margolis RL, Young WS, Li SH, Schilling G, Ashworth RG, Ross CA (1995 Jun). Cloning and expression of the rat atrophin-I (DRPLA disease gene) homologue. Neurobiology of disease, 2(3), 129-38. . ID: 9173996.
77.) Reti IM, Xu JZ, Yanofski J, McKibben J, Uhart M, Cheng YJ, Zandi P, Bienvenu OJ, Samuels J, Willour V, Kasch-Semenza L, Costa P, Bandeen-Roche K, Eaton WW, Nestadt G (2011 Mar-Apr). Monoamine oxidase A regulates antisocial personality in whites with no history of physical abuse. Comprehensive psychiatry, 52(2), 188-94. doi: 10.1007/s10557-011-6307-7. ID: 21295226.
The Genetic Resources Core Facility (GRCF)
A Part of the Johns Hopkins community for more than 30 years
A JHU service center which encompasses the Core Store, BioBank & Cell Center, and DNA Services. Collectively, these groups produce a number of products and services to aid researchers in performing studies in molecular biology and genetics.
JHU BioBank & Cell Center
Facilitates CAP-accredited clinical and basic scientific research by providing expertise and service in blood and biomaterial processing, mammalian cell culture, single-cell genomics, cryogenic storage, and national/international shipping.
DNA Services
Provides solutions for all of your DNA and RNA needs. We handle basic needs like DNA isolation, plating and storage, “traditional” core services like Sanger sequencing, PCR support and genotyping, and the more complex needs presented by the constantly changing field of next-generation sequencing.
