R
Ruthann Pfau
Researcher at Ohio State University
Publications - 9
Citations - 164
Ruthann Pfau is an academic researcher from Ohio State University. The author has contributed to research in topics: Fusion gene & Anaplastic lymphoma kinase. The author has an hindex of 3, co-authored 9 publications receiving 18 citations. Previous affiliations of Ruthann Pfau include Nationwide Children's Hospital.
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Journal ArticleDOI
Revised Neuroblastoma Risk Classification System: A Report From the Children's Oncology Group.
Meredith S. Irwin,Arlene Naranjo,Fan F Zhang,Susan L. Cohn,Wendy B. London,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Nilsa C. Ramirez,Nilsa C. Ramirez,Ruthann Pfau,Ruthann Pfau,Shalini C. Reshmi,Shalini C. Reshmi,Elizabeth Wagner,Jed G. Nuchtern,Shahab Asgharzadeh,Hiroyuki Shimada,John M. Maris,Rochelle Bagatell,Julie R. Park,Michael D. Hogarty +20 more
TL;DR: The most recent Children's Oncology Group (COG) risk classification system used tumor stage as d... as mentioned in this paper, which requires accurate assessment of prognosis for children with neuroblastoma.
Journal ArticleDOI
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.
Elizabeth S. Barrie,Maria P. Alfaro,Maria P. Alfaro,Ruthann Pfau,Ruthann Pfau,Melanie J. Goff,Kim L. McBride,Kim L. McBride,Kandamurugu Manickam,Erik Zmuda,Erik Zmuda +10 more
TL;DR: Three unrelated patients with loss-of-function alterations in NSD2 who presented clinically with WHS features including intrauterine growth retardation and global developmental delay are described.
Journal ArticleDOI
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cecelia R. Miller,Kristy Lee,Ruthann Pfau,Ruthann Pfau,Shalini C. Reshmi,Shalini C. Reshmi,Donald J. Corsmeier,Sayaka Hashimoto,Ashita Dave-Wala,Vijayakumar Jayaraman,Daniel C. Koboldt,Daniel C. Koboldt,Theodora Matthews,Danielle Mouhlas,Maggie Stein,Aimee McKinney,Thomas Grossman,Benjamin J. Kelly,Peter White,Peter White,Vincent Magrini,Vincent Magrini,Richard K. Wilson,Richard K. Wilson,Elaine R. Mardis,Elaine R. Mardis,Catherine E. Cottrell,Catherine E. Cottrell +27 more
TL;DR: The potential and importance of detecting mosaicism in ES is highlighted, particularly with increased sequence depth attainable from ES, as well as the need to assess diagnostic yield and characteristics of causal variants.
Journal ArticleDOI
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Elena A. Repnikova,Elena A. Repnikova,Dmitry A. Lyalin,Kimberly McDonald,Caroline Astbury,Emily Hansen-Kiss,Linda D. Cooley,Linda D. Cooley,Ruthann Pfau,Gail E. Herman,Robert E. Pyatt,Scott E. Hickey,Scott E. Hickey +12 more
TL;DR: In this paper, the authors evaluated clinical features of nineteen patients with detected copy number variations (CNVs) of CNTN6 as part of their clinical microarray analysis at Children's Mercy and Nationwide Children's Hospitals for the period of 2008-2015.
Journal ArticleDOI
Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.
Matthew R. Avenarius,Cecelia R. Miller,Michael Arnold,Selene C. Koo,Ryan D. Roberts,Martin Hobby,Thomas Grossman,Yvonne Moyer,Richard K. Wilson,Elaine R. Mardis,Elaine R. Mardis,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Ruthann Pfau,Ruthann Pfau +14 more
TL;DR: A custom RNA sequencing assay that detects fusion genes and SNVs in tandem and has the ability to identify novel fusion partners is presented, highlighting the advantages associated with utilizing AMP technology for the rapid and highly sensitive detection of somatic variants.