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R. Iyer · SciRah

Researcher profile · Semantic Scholar

R. Iyer

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R. Iyer — researcher profile on SciRah

h-index: 27
Works: 65
Citations: 3,406

Most-cited papers

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities
E. B. Kaminsky, V. Kaul, J. Paschall, D. Church +30 more
2011Genetics in Medicine412 citations Open access
Semantic Scholar
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
D. Moreno-De-Luca, J. Mulle, E. B. Kaminsky, Stephan J Sanders +31 more
2010American Journal of Human Genetics341 citations Open access
Semantic Scholar
Arginases I and II: do their functions overlap?
S. Cederbaum, Hong Yu, W. Grody, R. Kern +2 more
2004Molecular Genetics and Metabolism245 citations
Semantic Scholar
New observations on maternal age effect on germline de novo mutations
Wendy S. W. Wong, B. Solomon, D. Bodian, Prachi Kothiyal +7 more
2016Nature Communications208 citations Open access
Semantic Scholar
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Anna-Barbara Stittrich, A. Lehman, D. Bodian, J. Ashworth +15 more
2014American Journal of Human Genetics184 citations Open access
Semantic Scholar
Mouse Model for Human Arginase Deficiency
R. Iyer, P. Yoo, R. Kern, N. Rozengurt +5 more
2002Molecular and Cellular Biology180 citations Open access
Semantic Scholar
The human arginases and arginase deficiency
R. Iyer, C. Jenkinson, J. Vockley, R. Kern +2 more
1998Journal of Inherited Metabolic Disease157 citations
Semantic Scholar
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates
B. Solomon, D. Bodian, A. Khromykh, R. Hastak +13 more
2015Genetics in Medicine139 citations Open access
Semantic Scholar
Helicobacter pylori Induces Macrophage Apoptosis by Activation of Arginase II1
A. Gobert, Yu-Lan Cheng, Jian-Ying Wang, J. Boucher +5 more
2002Journal of Immunology106 citations Open access
Semantic Scholar
Copy Number Variations and Clinical Outcome in Atypical Spitz Tumors
L. Raskin, M. Ludgate, R. Iyer, Todd Ackley +3 more
2011American Journal of Surgical Pathology100 citations
Semantic Scholar
Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing
D. Bodian, Justine N. McCutcheon, Prachi Kothiyal, Kathi Huddleston +3 more
2014PLoS ONE98 citations Open access
Semantic Scholar
Cloning and characterization of human agmatinase.
R. Iyer, Hoki Kim, Rosemarie W Tsoa, W. Grody +1 more
2002Molecular Genetics and Metabolism94 citations
Semantic Scholar
Widespread Expression of Arginase I in Mouse Tissues: Biochemical and Physiological Implications
Hong Yu, P. Yoo, C. Aguirre, Rosemarie W Tsoa +4 more
2003Journal of Histochemistry and Cytochemistry87 citations Open access
Semantic Scholar
Expression of arginase isozymes in mouse brain
Hong-Xiu Yu, R. Iyer, R. Kern, Williams I. Rodriguez +2 more
2001Journal of Neuroscience Research83 citations
Semantic Scholar
The pathogenesis of ataxia-telangiectasia
R. Gatti, Sara G. Becker-Catania, Helen H. Chun, Xia Sun +9 more
2001Clinical reviews in allergy and immunology83 citations
Semantic Scholar
Expression of the liver form of arginase in erythrocytes.
P. S. Kim, R. Iyer, Kan V. Lu, Hong Yu +5 more
2002Molecular Genetics and Metabolism76 citations
Semantic Scholar
The Tetraspan Protein Epithelial Membrane Protein-2 Interacts with β1 Integrins and Regulates Adhesion*
M. Wadehra, R. Iyer, L. Goodglick, J. Braun
2002Journal of Biological Chemistry75 citations Open access
Semantic Scholar
Ornithine deficiency in the arginase double knockout mouse.
Joshua L. Deignan, J. Livesay, P. Yoo, S. Goodman +4 more
2006Molecular Genetics and Metabolism70 citations
Semantic Scholar
Genomic and molecular characterization of preterm birth
T. Knijnenburg, J. Vockley, N. Chambwe, D. Gibbs +27 more
2019Proceedings of the National Academy of Sciences of the United States of America68 citations Open access
Semantic Scholar
Duplication 16p11.2 in a Child with Infantile Seizure Disorder
J. Bedoyan, Ravinesh A. Kumar, Jyotsna Sudi, F. S. Silverstein +4 more
2010American Journal of Medical Genetics. Part A62 citations Open access
Semantic Scholar
Knockdown of the tetraspan protein epithelial membrane protein-2 inhibits implantation in the mouse.
M. Wadehra, M. Dayal, M. Mainigi, T. Ord +3 more
2006Developmental Biology47 citations Open access
Semantic Scholar
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.
Joshua L. Deignan, B. Marescau, J. Livesay, R. Iyer +3 more
2008Molecular Genetics and Metabolism45 citations
Semantic Scholar
Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3
Wen-Bo Xu, Ayesha Ahmad, S. Dagenais, R. Iyer +1 more
2012American Journal of Medical Genetics. Part A42 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome
B. Solomon, D. Bodian, A. Khromykh, Gabriela Gomez Mora +5 more
2015American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn
A. Pavey, D. Bodian, T. Vilboux, A. Khromykh +8 more
2017Genetics in Medicine35 citations Open access
Semantic Scholar
Cloning and characterization of the mouse and rat type II arginase genes.
R. Iyer, J. Bando, Christopher P. Jenkinson, J. Vockley +4 more
1998Molecular Genetics and Metabolism35 citations
Semantic Scholar
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication
C. Vlangos, Amanda Siuniak, Todd Ackley, H. van Bokhoven +5 more
2011American Journal of Medical Genetics. Part A33 citations Open access
Semantic Scholar
The Microbiome in Necrotizing Enterocolitis: A Case Report in Twins and Minireview.
Suchitra K. Hourigan, Allison D. Ta, Wendy S. W. Wong, Nicole C. Clemency +5 more
2016Clinical Therapeutics25 citations Open access
Semantic Scholar
Polyamine homeostasis in arginase knockout mice.
Joshua L. Deignan, J. Livesay, L. Shantz, A. Pegg +4 more
2007American Journal of Physiology - Cell Physiology24 citations
Semantic Scholar
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.
Michael R Jarvis, R. Iyer, Laurina O. Williams, W. Noll +3 more
2005Journal of Molecular Diagnostics23 citations Open access
Semantic Scholar
Associations of renin-angiotensin system genetic polymorphisms and clinical course after aneurysmal subarachnoid hemorrhage.
C. Griessenauer, R. Tubbs, P. Foreman, M. Chua +12 more
2017Journal of Neurosurgery21 citations Open access
Semantic Scholar
Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients
Krithika Bhuvaneshwar, Michael Harris, Yuriy Gusev, S. Madhavan +5 more
2019BMC Cancer19 citations Open access
Semantic Scholar
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio
D. Bodian, B. Solomon, A. Khromykh, D. Thach +6 more
2014Molecular Genetics & Genomic Medicine18 citations Open access
Semantic Scholar
Association of renin-angiotensin system genetic polymorphisms and aneurysmal subarachnoid hemorrhage.
C. Griessenauer, R. Tubbs, P. Foreman, M. Chua +12 more
2018Journal of Neurosurgery17 citations
Semantic Scholar
Loss of arginase I results in increased proliferation of neural stem cells
Sara G. Becker-Catania, Teresa L. Gregory, Ya-Wei Yang, C. Gau +3 more
2006Journal of Neuroscience Research17 citations
Semantic Scholar
Collection of non-meconium stool on fecal occult blood cards is an effective method for fecal microbiota studies in infants
Wendy S. W. Wong, Nicole C. Clemency, Elisabeth Z. Klein, Marina Provenzano +3 more
2017Microbiome16 citations Open access
Semantic Scholar
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
L. Kalman, J. Tarleton, A. Percy, S. Aradhya +10 more
2014Journal of Molecular Diagnostics16 citations Open access
Semantic Scholar
A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia
J. Bedoyan, M. M. Lesperance, Todd Ackley, R. Iyer +2 more
2010American Journal of Medical Genetics. Part A14 citations Open access
Semantic Scholar
A Multiethnic Study of &Dgr;32ccr5 and ccr2b-V64I Allele Distribution in Four Los Angeles Populations
R. Iyer, P. S. Kim, J. Bando, Kan V. Lu +2 more
2001Diagnostic molecular pathology (Print)12 citations
Semantic Scholar
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care
A. Khromykh, B. Solomon, D. Bodian, Eyby Leon +6 more
2015Molecular Syndromology9 citations Open access
Semantic Scholar
Arginase induction by sodium phenylbutyrate in mouse tissues and human cell lines.
R. Kern, Z. Yang, P. S. Kim, W. Grody +2 more
2007Molecular Genetics and Metabolism8 citations
Semantic Scholar
Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
B. Singer, R. Iyer, D. Kerr, Ayesha Ahmad
2010Molecular Genetics and Metabolism6 citations
Semantic Scholar
An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities
E. B. Kaminsky, Brian P. Bunke, V. Kaul, J. Paschall +18 more
6 citations
Semantic Scholar
Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))
D. Moreno-De-Luca, J. Mulle, E. B. Kaminsky, Stephan J Sanders +31 more
20114 citations Open access
Semantic Scholar
BEDSIDE TESTING OF CYP2C19 GENOTYPE TO GUIDE ANTIPLATELET THERAPY: IMPLEMENTATION IN THE CATHETERIZATION LABORATORY
P. Gurbel, R. Bell, K. Bliden, Shahram Yazdani +6 more
20182 citations Open access
Semantic Scholar
Abstract B086: Patient-derived pancreatic tumor organoids as a tool to evaluate cancer stem cell populations and their role in therapeutic resistance
Z. Keepers, Sanjit K. Roy, W. Ryan, B. Bhandary +6 more
2024Cancer Research1 citations
Semantic Scholar
Abstract 32: Implementation of Bedside CYP2C19 Genotype Testing and Personalization of Antiplatelet Therapy in Cardiac Catheterization Lab
P. Gurbel, M. Sherwood, K. Bliden, M. Jindal +10 more
2019Circulation. Cardiovascular Quality and Outcomes1 citations
Semantic Scholar
P-B23 Prevalence of Ebola viral entry resistance in a diverse population
Praveen F. Cherukuri, T. Vilboux, Prachi Kothiyal, Aaron D. Black +6 more
20161 citations
Semantic Scholar
This information is current as Apoptosis by Activation of Arginase II Induces Macrophage Helicobacter pylori
A. Gobert, Yu-Lan Cheng, Jian-Ying Wang, J. Boucher +5 more
20021 citations
Semantic Scholar
Clinical pharmacogenomic testing impacts therapy decisions and supportive medication choices in breast cancer.
K. Harnden, J. Deeken, Matthew Stankowicz, A. Stafford +10 more
2019Journal of Clinical Oncology0 citations
Semantic Scholar

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