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Valerie Gartner · SciRah

Researcher profile · Semantic Scholar

Valerie Gartner

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Valerie Gartner — researcher profile on SciRah

h-index: 8
Works: 8
Citations: 642

Most-cited papers

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-ouran, Yan-Hui Hu, Seon-Young Kim +180 more
2017American Journal of Human Genetics194 citations Open access
Semantic Scholar
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
R. Ramoni, J. Mulvihill, David R. Adams, Patrick Allard +175 more
2017American Journal of Human Genetics177 citations Open access
Semantic Scholar
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Hsiao-Tuan Chao, M. Davids, Elizabeth A. Burke, J. Pappas +176 more
2017American Journal of Human Genetics111 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
Protease-activated receptor-1 activation by granzyme B causes neurotoxicity that is augmented by interleukin-1β
Paul R. Lee, T. Johnson, S. Gnanapavan, G. Giovannoni +6 more
2017Journal of Neuroinflammation45 citations Open access
Semantic Scholar
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
T. Cassini, L. Duncan, Lynette C. Rives, J. Newman +177 more
2019Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Valerie Gartner, T. Markello, Ellen F. Macnamara, A. De Biase +10 more
2018American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Valerie Gartner, P. McGuire, Paul R. Lee
2015Neurology11 citations Open access
Semantic Scholar

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