Stavit A. Shalev - Concepedia

Author

Stavit A. Shalev

Also Known As

D Karfunkel, Greeley, S.A.W, S A Shalev, S. A. Shalev, S. Shalev, S.A. Shalev, Shalev, Stavit, Stavit A Shalev, Stavit A. Shalev, Stavit Allon Shalev

126

Publications

6.4K

Citations

H-Index

106

Concepts

All Affiliations

Emek Medical Center Technion – Israel Institute of Technology Hadassah Medical Center Tel Aviv University Rappaport Family Institute for Research in the Medical Sciences

About

Stavit A. Shalev is an author at Emek Medical Center specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	29	40	3.6K
2	Public Health	6	6	710
3	Cell Biology	4	4	416
4	Arts	1	1	11
5	Allergy	1	1	680

Stavit A. Shalev

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Gillian Rice, Jacquelyn Bond, Aruna Asipu, Nature Genetics AllergyAutoimmune DiseasePathogenesisImmunologyInnate Immune Response	2009	680
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, The Lancet Neurology Genetic DisorderAicardi-goutières SyndromeGeneticsMedicineImmunology	2013	425
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis Sylvain Hanein, Isabelle Perrault, S. Gerber, Human Mutation	2004	348
A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren, The American Journal of Human Genetics Snare Protein InvolvedNeuromuscular JunctionCerebral DysgenesisDevelopmental BiologyScleroderma	2005	197
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin Eli Sprecher, Gabriele Richard, Raziel Lurie, Nature Genetics Ocular DiseaseOphthalmologyPathologyDegenerative DiseaseJuvenile Macular Dystrophy	2001	184
Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by<i>KIF11</i>Mutations Johane M. Robitaille, Roxanne M. Gillett, Marissa A. LeBlanc, JAMA Ophthalmology	2014	133
Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia<sup>1</sup> Himangshu S. Bose, Seiji Sato, Javier Aisenberg, The Journal of Clinical Endocrinology & Metabolism Lipoid CahAdrenal GlandDevelopmental BiologyStar ProteinStar Mutation	2000	116
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous <i>OPA1</i> mutation Ronen Spiegel, Ann Saada, Padraig J. Flannery, Journal of Medical Genetics	2015	114

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