P
Peggy S. Eis
Researcher at Hoffmann-La Roche
Publications - 44
Citations - 4406
Peggy S. Eis is an academic researcher from Hoffmann-La Roche. The author has contributed to research in topics: Comparative genomic hybridization & Cleavage (embryo). The author has an hindex of 21, co-authored 43 publications receiving 4228 citations. Previous affiliations of Peggy S. Eis include University of Wisconsin-Madison & French Institute of Health and Medical Research.
Papers
More filters
Journal ArticleDOI
Comparative genomic hybridization solves a 14‐year‐old PARKIN mystery
TL;DR: New data is presented using microarray comparative genomic hybridization (array CGH) to reanalyze the PARKIN gene in family Ph for CNVs to resolve questions about the early onset of symptoms in the three affected brothers.
Journal ArticleDOI
Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies
Eli Hatchwell,Edward Bolande Smith,Shapour Jalilzadeh,Christopher D. Bruno,Yassine Taoufik,Houria Hendel-Chavez,Roland S. Liblau,David Brassat,Guillaume Martin-Blondel,Heinz Wiendl,Nicholas Schwab,Irene Cortese,Maria Chiara Monaco,Luisa Imberti,Ruggero Capra,Jorge R. Oksenberg,Jacques Gasnault,Bruno Stankoff,Todd Richmond,David M. Rancour,Igor J. Koralnik,Barbara A. Hanson,Eugene O. Major,Christina R. Chow,Peggy S. Eis +24 more
TL;DR: In this paper , the authors proposed a genetic risk test for Progressive multifocal leukoencephalopathy (PML), a rare and often lethal brain disorder caused by the common, typically benign polyomavirus 2, also known as JC virus (JCV).
Journal ArticleDOI
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Anne Claire Richard,Anne Rovelet-Lecrux,Elsa Delaby,Elsa Delaby,Elsa Delaby,Camille Charbonnier,Bhooma Thiruvahindrapuram,Eli Hatchwell,Peggy S. Eis,Alexandra Afenjar,Brigitte Gilbert Dussardier,Stephen W. Scherer,Stephen W. Scherer,Catalina Betancur,Catalina Betancur,Catalina Betancur,Dominique Campion +16 more
TL;DR: It is found that the PRODH deletion is a strong risk factor for HPI but not for ASD, which indicates either that the suggested association between ASD and HPI is spurious and results from a bias leading to the preferential inclusion of patients with autistic features in HPI series, or thatHPI is present in only a very small subset of ASD patients.
Patent
Methods and compositions for inhibiting and treating neurological conditions
Eli Hatchwell,Peggy S. Eis +1 more
TL;DR: In this article, the authors provide methods and materials related to treating subjects having specific genetic variations associated with neurological disorders such as Parkinson's disease, such as Alzheimer's disease and stroke.
Book ChapterDOI
Quantification of microRNAs, splicing isoforms, and homologous mRNAs with the invader assay.
TL;DR: In this paper, the authors proposed an isothermal signal amplification process with a fluorescence resonance energy transfer (FRET)-based fluorescence readout to detect 1-10 RNA molecules per cell, discriminate between RNAs that differ by a single base, and precisely measure 1.2-fold changes in RNA expression.