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Genetic Resources Core Facility

Johns Hopkins University

Contact Info:

Barbara Daily

Johns Hopkins University

600 North Wolfe Street, Blalock 1032

Baltimore, MD 21287

http://grcf.jhmi.edu

Grants and Identifiers:

RRID: RRID:SCR_018669

Instrumentation:

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

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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

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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

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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

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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

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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

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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

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Illumina MiSeq

Illumina NovaSeq6000

(Equipment No Longer Active At this Facility)

Illumina NovoSeq6000

QIAGEN QIAcuity dPCR system

Other Equipment

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

Services Provided:

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

Relevant Publications:

1.) 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.


2.) Wilson JL, Akin E, Zhou R, Jedlicka A, Dziedzic A, Liu H, Fenstermacher KZJ, 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), . . PMID: 37766362.


3.) 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 Aug 31). SARS-CoV-2 infection alters mitochondrial and cytoskeletal function in human respiratory epithelial cells mediated by expression of spike protein. mBio, 14(4), e0082023. . PMID: 37504520.


4.) 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.


5.) 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 : the preprint server for biology, (), . . PMID: 37577630.


6.) 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.


7.) 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 : the preprint server for biology, (), . . PMID: 37577692.


8.) 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.


9.) 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.


10.) 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.


11.) 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 (Basel, Switzerland), 12(3), . . PMID: 36986402.


12.) 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.


13.) 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 : the preprint server for biology, (), . . PMID: 36945583.


14.) 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.


15.) 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.


16.) Liu S, Fu H, Ray M, Heinsberg LW, Conley YP, Anderson CM, Hubel CA, Roberts JM, Jeyabalan A, Weeks DE, Schmella MJ (2023). A longitudinal epigenome-wide association study of preeclamptic and normotensive pregnancy. Epigenetics communications, 3(1), . . PMID: 37063698.


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.) 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 Oct 3). 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. . PMCID: 9722613.


19.) 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.


20.) 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.


21.) 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.


22.) 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). 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 (Lausanne, Switzerland), 2(), . . PMID: 35573818.


23.) Castiglione GM, Zhou L, Xu Z, Neiman Z, Hung CF, Duh EJ (2021 Dec 21). Evolutionary pathways to SARS-CoV-2 resistance are opened and closed by epistasis acting on ACE2 PLoS Biology, 19(12), e3001510. . PMCID: 8730403.


24.) 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.


25.) 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.


26.) 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.


27.) 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.


28.) 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.


29.) 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.


30.) 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.


31.) 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.


32.) 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.


33.) 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.


34.) 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.


35.) 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.


36.) 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.


37.) 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.


38.) 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.


39.) 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.


40.) 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.


41.) 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.


42.) 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.


43.) 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.


44.) 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.


45.) 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.


46.) 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.


47.) 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.


48.) 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.


49.) 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.


50.) 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.


51.) 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.


52.) 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.


53.) 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.


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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.