Alport syndrome COL4A5 variant database
Crockett, David K, Pont-Kingdon, Genevieve, Gedge, Frederick, Sumner, Kelli, Seamons, Ryan, Lyon, Elaine
Published in Human mutation (01.08.2010)
Published in Human mutation (01.08.2010)
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A coral mitochondrial mutS gene
Pont-Kingdon, Geneviève A, Okada, Norichika A, Macfarlane, Jane L, Beagley, C. Timothy, Wolstenholme, David R, Cavalier-Smith, Thomas, Clark-Walker, G. Desmond
Published in Nature (London) (11.05.1995)
Published in Nature (London) (11.05.1995)
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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
Savige, Judy, Ars, Elisabet, Cotton, Richard G. H., Crockett, David, Dagher, Hayat, Deltas, Constantinos, Ding, Jie, Flinter, Frances, Pont-Kingdon, Genevieve, Smaoui, Nizar, Torra, Roser, Storey, Helen
Published in Pediatric nephrology (Berlin, West) (01.06.2014)
Published in Pediatric nephrology (Berlin, West) (01.06.2014)
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Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing
Sumner, Kelli, Swensen, Jeffrey J, Procter, Melinda, Jama, Mohamed, Wooderchak-Donahue, Whitney, Lewis, Tracey, Fong, Michael, Hubley, Lindsey, Schwarz, Monica, Ha, Youna, Paul, Eleri, Brulotte, Benjamin, Lyon, Elaine, Bayrak-Toydemir, Pinar, Mao, Rong, Pont-Kingdon, Genevieve, Best, D. Hunter
Published in The Journal of molecular diagnostics : JMD (01.09.2014)
Published in The Journal of molecular diagnostics : JMD (01.09.2014)
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Direct Molecular Haplotyping of the IVS-8 Poly(TG) and PolyT Repeat Tracts in the Cystic Fibrosis Gene by Melting Curve Analysis of Hybridization Probes
Millson, Alison, Pont-Kingdon, Genevieve, Page, Sam, Lyon, Elaine
Published in Clinical chemistry (Baltimore, Md.) (01.09.2005)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2005)
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Molecular testing for adult type Alport syndrome
Pont-Kingdon, Genevieve, Sumner, Kelli, Gedge, Friederike, Miller, Chris, Denison, Joyce, Gregory, Martin, Lyon, Elaine
Published in BMC nephrology (17.11.2009)
Published in BMC nephrology (17.11.2009)
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Multiplex genotyping by melting analysis of loci-spanning probes: β-globin as an example
Pont-Kingdon, Genevieve, Chou, Lan-Szu, Damjanovich, Kristy, Sumner, Kelli, Herrmann, Mark, Erali, Maria, Lyon, Elaine
Published in BioTechniques (01.02.2007)
Published in BioTechniques (01.02.2007)
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Mitochondrial DNA of the coral Sarcophyton glaucum contains a gene for a homologue of bacterial MutS: a possible case of gene transfer from the nucleus to the mitochondrion
Pont-Kingdon, G, Okada, N A, Macfarlane, J L, Beagley, C T, Watkins-Sims, C D, Cavalier-Smith, T, Clark-Walker, G D, Wolstenholme, D R
Published in Journal of molecular evolution (01.04.1998)
Published in Journal of molecular evolution (01.04.1998)
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Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4
Millson, Alison, Lewis, Tracey, Pesaran, Tina, Salvador, David, Gillespie, Katrina, Gau, Chia-Ling, Pont-Kingdon, Genevieve, Lyon, Elaine, Bayrak-Toydemir, Pinar
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
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Design and analytical validation of clinical DNA sequencing assays
Pont-Kingdon, Genevieve, Gedge, Friederike, Wooderchak-Donahue, Whitney, Schrijver, Iris, Weck, Karen E, Kant, Jeffrey A, Oglesbee, Devin, Bayrak-Toydemir, Pinar, Lyon, Elaine
Published in Archives of pathology & laboratory medicine (1976) (01.01.2012)
Published in Archives of pathology & laboratory medicine (1976) (01.01.2012)
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Ribonucleoprotein formation by the ORF1 protein of the non-LTR retrotransposon Tx1L in Xenopus oocytes
Pont-Kingdon, Geneviève, Chi, Enxi, Christensen, Shawn, Carroll, Dana
Published in Nucleic acids research (01.08.1997)
Published in Nucleic acids research (01.08.1997)
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Unlabeled Oligonucleotides as Internal Temperature Controls for Genotyping by Amplicon Melting
Seipp, Michael T, Durtschi, Jacob D, Liew, Michael A, Williams, Jamie, Damjanovich, Kristy, Pont-Kingdon, Genevieve, Lyon, Elaine, Voelkerding, Karl V, Wittwer, Carl T
Published in The Journal of molecular diagnostics : JMD (01.07.2007)
Published in The Journal of molecular diagnostics : JMD (01.07.2007)
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