S
Steven B. Bleyl
Researcher at University of Utah
Publications - 66
Citations - 2506
Steven B. Bleyl is an academic researcher from University of Utah. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 23, co-authored 65 publications receiving 2278 citations. Previous affiliations of Steven B. Bleyl include Intermountain Healthcare & Primary Children's Hospital.
Papers
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Book
Larsen's Human Embryology
TL;DR: Fetal development and the fetus as patient, and the principles and mechanisms of morphogenesis and dysmorphogenesis.
Journal ArticleDOI
Xq28-linked noncompaction of the left ventricular myocardium : prenatal diagnosis and pathologic analysis of affected individuals
Steven B. Bleyl,Brian R. Mumford,Mary Carole Brown-Harrison,Luciana T. Pagotto,John C. Carey,Theodore J. Pysher,Kenneth Ward,Thomas K. Chin +7 more
TL;DR: Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.
Journal ArticleDOI
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
Steven B. Bleyl,Brian R. Mumford,Victor Thompson,John C. Carey,Theodore J. Pysher,Thomas K. Chin,Kenneth Ward +6 more
TL;DR: It is concluded that INVM is a severe allelic variant of BTHS with a specific effect on the heart and has implications for unexplained cases of severe infantile hypertrophic cardiomyopathy in males.
Journal ArticleDOI
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system†
Carol S. Bruggers,Steven B. Bleyl,Theodore J. Pysher,Philip Barnette,Zeinab Afify,Marion L. Walker,Jaclyn A. Biegel +6 more
TL;DR: This study described and compared familial (F) versus sporadic (S) AT/RT and elucidated SMARCB1 mutations and inheritance patterns.