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Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease.
Published in:
NPJ Parkinson's Disease, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41531-018-0054-4
By:
- Zafar, Faria;
- Valappil, Ruksana Azhu;
- Kim, Sam;
- Johansen, Krisztina K.;
- Chang, Anne Lynn S.;
- Tetrud, James W.;
- Eis, Peggy S.;
- Hatchwell, Eli;
- Langston, J. William;
- Dickson, Dennis W.;
- Schüle, Birgitt
Publication type:
Article
wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data.
Published in:
Nucleic Acids Research, 2008, v. 36, n. 7, p. e41, doi. 10.1093/nar/gkn110
By:
- Cahan, Patrick;
- Godfrey, Laura E.;
- Eis, Peggy S.;
- Richmond, Todd A.;
- Selzer, Rebecca R.;
- Brent, Michael;
- McLeod, Howard L.;
- Ley, Timothy J.;
- Graubert, Timothy A.
Publication type:
Article
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 377, doi. 10.1002/ajmg.b.32416
By:
- Richard, Anne Claire;
- Rovelet‐Lecrux, Anne;
- Delaby, Elsa;
- Charbonnier, Camille;
- Thiruvahindrapuram, Bhooma;
- Hatchwell, Eli;
- Eis, Peggy S.;
- Afenjar, Alexandra;
- Gilbert Dussardier, Brigitte;
- Scherer, Stephen W.;
- Betancur, Catalina;
- Campion, Dominique
Publication type:
Article
An invasive cleavage assay for direct quantitation of specific RNAs.
Published in:
Nature Biotechnology, 2001, v. 19, n. 7, p. 673, doi. 10.1038/90290
By:
- Eis, Peggy S.;
- Olson, Marilyn C.;
- Takova, Tsetska;
- Curtis, Michelle L.;
- Olson, Sarah M.;
- Vener, Tatiana I.;
- Ip, Hon S.;
- Vedvik, Kevin L.;
- Bartholomay, Christian T.;
- Allawi, Hatim T.;
- Ma, Wu-Po;
- Hall, Jeff G.;
- Morin, Michelle D.;
- Rushmore, Tom H.;
- Lyamichev, Victor I.;
- Kwiatkowski, Robert W.
Publication type:
Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
By:
- Ballif, Blake C.;
- Hornor, Sara A.;
- Jenkins, Elizabeth;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Jackson, Kelly E.;
- Asamoah, Alexander;
- Brock, Pamela L.;
- Gowans, Gordon C.;
- Conway, Robert L.;
- Graham Jr., John M.;
- Medne, Livija;
- Zackai, Elaine H.;
- Shaikh, Tamim H.;
- Geoghegan, Joel;
- Selzer, Rebecca R.;
- Eis, Peggy S.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.
Publication type:
Article
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Published in:
Nature Genetics, 2006, v. 38, n. 9, p. 1038, doi. 10.1038/ng1862
By:
- Sharp, Andrew J.;
- Hansen, Sierra;
- Selzer, Rebecca R.;
- Ze Cheng;
- Regan, Regina;
- Hurst, Jane A.;
- Stewart, Helen;
- Price, Sue M.;
- Blair, Edward;
- Hennekam, Raoul C.;
- Fitzpatrick, Carrie A.;
- Segraves, Rick;
- Richmond, Todd A.;
- Guiver, Cheryl;
- Albertson, Donna G.;
- Pinkel, Daniel;
- Eis, Peggy S.;
- Schwartz, Stuart;
- Knight, Samantha J. L.;
- Eichler, Evan E.
Publication type:
Article
Resolution of end-to-end diffusion coefficients and distance distributions of flexible molecules using fluorescent donor-acceptor and donor-quencher pairs.
Published in:
Biopolymers, 1991, v. 31, n. 12, p. 1363, doi. 10.1002/bip.360311203
By:
- Lakowicz, Joseph R.;
- Kuśba, Józef;
- Szmacinski, Henryk;
- Gryczynski, Ignacy;
- Eis, Peggy S.;
- Wiczk, Wieslaw;
- Johnson, Michael L.
Publication type:
Article
Comparative genomic hybridization solves a 14-year-old PARKIN mystery.
Published in:
2015
By:
- Schüle, Birgitt;
- Hatchwell, Eli;
- Eis, Peggy S.;
- Langston, J. William
Publication type:
research
Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency.
Published in:
Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.555961
By:
- Eis, Peggy S.;
- Huang, Neng;
- Langston, J. William;
- Hatchwell, Eli;
- Schüle, Birgitt
Publication type:
Article
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00186
By:
- Eis, Peggy S.;
- Bruno, Christopher D.;
- Richmond, Todd A.;
- Koralnik, Igor J.;
- Hanson, Barbara A.;
- Major, Eugene O.;
- Chow, Christina R.;
- Hendel-Chavez, Houria;
- Stankoff, Bruno;
- Gasnault, Jacques;
- Taoufik, Yassine;
- Hatchwell, Eli
Publication type:
Article
Analysis of chromosome breakpoints in neuroblastoma at sub‐kilobase resolution using fine‐tiling oligonucleotide array CGH.
Published in:
Genes, Chromosomes & Cancer, 2005, v. 44, n. 3, p. 305, doi. 10.1002/gcc.20243
By:
- Rebecca R. Selzer;
- Todd A. Richmond;
- Nathan J. Pofahl;
- Roland D. Green;
- Peggy S. Eis;
- Prakash Nair;
- Arthur R. Brothman;
- Raymond L. Stallings
Publication type:
Article
A High-Resolution Map of Segmental DNA Copy Number Variation in the Mouse Genome.
Published in:
PLoS Genetics, 2007, v. 3, n. 1, p. 21, doi. 10.1371/journal.pgen.0030003
By:
- Graubert, Timothy A.;
- Cahan, Patrick;
- Edwin, Deepa;
- Selzer, Rebecca R.;
- Richmond, Todd A.;
- Eis, Peggy S.;
- Shannon, William D.;
- Xia Li;
- McLeod, Howard L.;
- Cheverud, James M.;
- Ley, Timothy J.
Publication type:
Article
Characterization of a recurrent 15q24 microdeletion syndrome.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
By:
- Sharp, Andrew J.;
- Selzer, Rebecca R.;
- Veltman, Joris A.;
- Gimelli, Stefania;
- Gimelli, Giorgio;
- Striano, Pasquale;
- Coppola, Antonietta;
- Regan, Regina;
- Price, Sue M.;
- Knoers, Nine V.;
- Eis, Peggy S.;
- Brunner, Han G.;
- Hennekam, Raoul C.;
- Knight, Samantha J.L.;
- de Vries, Bert B.A.;
- Zuffardi, Orsetta;
- Eichler, Evan E.
Publication type:
Article

Found: 13