R
Richard E. Person
Researcher at GeneDx
Publications - 104
Citations - 8644
Richard E. Person is an academic researcher from GeneDx. The author has contributed to research in topics: Exome sequencing & Neurodevelopmental disorder. The author has an hindex of 35, co-authored 101 publications receiving 7488 citations. Previous affiliations of Richard E. Person include Children's Mercy Hospital & Baylor College of Medicine.
Papers
More filters
Journal ArticleDOI
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang,Donna M. Muzny,Jeffrey G. Reid,Matthew N. Bainbridge,Alecia Willis,Patricia A. Ward,Alicia Braxton,Joke Beuten,Fan Xia,Zhiyv Niu,Matthew T. Hardison,Richard E. Person,Mir Reza Bekheirnia,Magalie S. Leduc,Amelia Kirby,Peter Pham,Jennifer Scull,Min Wang,Yan Ding,Sharon E. Plon,James R. Lupski,Arthur L. Beaudet,Richard A. Gibbs,Christine M. Eng +23 more
TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.
Journal ArticleDOI
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang,Donna M. Muzny,Fan Xia,Zhiyv Niu,Richard E. Person,Yan Ding,Patricia A. Ward,Alicia Braxton,Min Wang,Christian J. Buhay,Narayanan Veeraraghavan,Alicia Hawes,Theodore Chiang,Magalie S. Leduc,Joke Beuten,Jing Zhang,Weimin He,Jennifer Scull,Alecia Willis,Megan Landsverk,William J. Craigen,Mir Reza Bekheirnia,Asbjørg Stray-Pedersen,Pengfei Liu,Shu Wen,Wendy Alcaraz,Hong Cui,Magdalena Walkiewicz,Jeffrey G. Reid,Matthew N. Bainbridge,Ankita Patel,Eric Boerwinkle,Eric Boerwinkle,Arthur L. Beaudet,James R. Lupski,Sharon E. Plon,Richard A. Gibbs,Christine M. Eng +37 more
TL;DR: Whole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations contributing to disease, and may offer advantages over traditional molecular diagnostic approaches in certain patients.
Journal ArticleDOI
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
Trilochan Sahoo,Daniela del Gaudio,Jennifer R. German,Marwan Shinawi,Sarika U. Peters,Richard E. Person,Adolfo D. Garnica,Sau Wai Cheung,Arthur L. Beaudet +8 more
TL;DR: A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBOs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.
Journal ArticleDOI
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
David C. Dale,Richard E. Person,Audrey Anna Bolyard,Andrew A.G. Aprikyan,Cindy Bos,Mary Ann Bonilla,Laurence A. Boxer,George Kannourakis,Cornelia Zeidler,Karl Welte,Kathleen F. Benson,Marshall S. Horwitz +11 more
TL;DR: It is indicated that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropania.
Journal ArticleDOI
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
TL;DR: It is hypothesize that a perturbed interaction between neutrophil elastase and serpins or other substrates may regulate mechanisms governing the clock-like timing of haematopoiesis.