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R. Jethva · SciRah

Researcher profile · Semantic Scholar

R. Jethva

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R. Jethva — researcher profile on SciRah

h-index: 12
Works: 26
Citations: 872

Most-cited papers

Mitochondrial dysfunction in autism.
A. Legido, R. Jethva, M. Goldenthal
2013Seminars in Pediatric Neurology317 citations
Semantic Scholar
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.
Satoru Otsuru, P. L. Gordon, K. Shimono, R. Jethva +7 more
2012Blood147 citations Open access
Semantic Scholar
Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
R. Jethva, M. Bennett, J. Vockley
2008Molecular Genetics and Metabolism106 citations Open access
Semantic Scholar
Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.
M. Goldenthal, S. Damle, S. Sheth, Nidhi Shah +5 more
2015Biomarkers in Medicine50 citations
Semantic Scholar
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
Karen Runge, Rémi Mathieu, Stephane Bugeon, Sahra Lafi +34 more
2021Molecular Psychiatry39 citations Open access
Semantic Scholar
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
S. Stabler, M. Korson, R. Jethva, R. H. Allen +4 more
2013JIMD Reports39 citations Open access
Semantic Scholar
Cell therapy for disorders of bone.
R. Jethva, Satoru Otsuru, M. Dominici, E. Horwitz
2009Cytotherapy39 citations
Semantic Scholar
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant
R. Hoban, Amy E. Roberts, L. Demmer, R. Jethva +1 more
2012American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
R. Jethva, C. Ficicioglu
2008Molecular Genetics and Metabolism19 citations
Semantic Scholar
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring
L. Nguyen, R. Fleishman, Emilee Flynn, R. Prasad +4 more
2017Clinical Case Reports15 citations Open access
Semantic Scholar
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
J. Imitola, D. Walleigh, C. Anderson, R. Jethva +3 more
2014Seminars in Pediatric Neurology13 citations
Semantic Scholar
Reversible corneal epitheliopathy caused by vitamin B12 and folate deficiency in a vegan with a genetic mutation: a new disease
U. Jurkunas, F. Jakobiec, J. Shin, F. Zakka +2 more
2011Eye13 citations Open access
Semantic Scholar
A Novel 2q37 Microdeletion Containing Human Neural Progenitors Genes Including STK25 Results in Severe Developmental Delay, Epilepsy, and Microcephaly
J. Imitola, D. Khurana, N. Teplyuk, M. Zucker +6 more
2015American Journal of Medical Genetics. Part A11 citations Open access
Semantic Scholar
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Lynne A. Wolfe, R. Jethva, D. Oglesbee, J. Vockley
201410 citations
Semantic Scholar
Co‐occurrence of non‐mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature
Folasade Kehinde, C. Anderson, J. Mcgowan, R. Jethva +6 more
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy
C. Fernández, A. Legido, R. Jethva, H. Marks
2012Genetics in Medicine7 citations Open access
Semantic Scholar
Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord.
Jinglan Liu, R. Jethva, M. Del Vecchio, John E Hauptman +2 more
2013Birth defects research. Clinical and molecular teratology6 citations
Semantic Scholar
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
Karen Runge, Rémi Mathieu, Stephane Bugeon, Sahra Lafi +34 more
2021Molecular Psychiatry1 citations Open access
Semantic Scholar
ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes
H. J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc, Angéline Preto +58 more
2026bioRxiv0 citations Open access
Semantic Scholar
The effects of disease-causing ClC-7 mutations on lysosomal pH.
Vedrana Mikušević, Jacob Hilton, R. Jethva, J. Mindell
2023Biophysical Journal0 citations Open access
Semantic Scholar
Table 2. [Selected ACADS Allelic Variants].
L. Wolfe, R. Jethva, D. Oglesbee, J. Vockley
20140 citations
Semantic Scholar
Table 1. [Summary of Molecular Genetic Testing Used in SCAD Deficiency].
L. Wolfe, R. Jethva, D. Oglesbee, J. Vockley
20140 citations
Semantic Scholar
mechanisms benefit to children with osteogenesis imperfecta through different Transplanted bone marrow mononuclear cells and MSCs impart clinical
Ted J. Hofmann, Elena Veronesi, M. Dominici, M. Iwamoto +5 more
20120 citations
Semantic Scholar
Inborn Errors of Metabolism
R. Jethva
20110 citations
Semantic Scholar
A strategy for single nucleotide polymorphism analysis of chimerism for somatic cell therapy.
Xiao-Hua Chen, Ted J. Hofmann, Satoru Otsuru, R. Jethva +3 more
2010Cytotherapy0 citations
Semantic Scholar
A Strategy for Distinguishing SNP Identity in Multiple-Donors Involved in Haploidentical Bone Marrow Transplantation
X. Chen, Ted J. Hofmann, Satoru Otsuru, R. Jethva +1 more
20090 citations Open access
Semantic Scholar

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