Rasim Özgür Rosti - Concepedia

Author

Rasim Özgür Rosti

Also Known As

R Ozgur Rosti, R Rosti, R. Ozgur Rosti, R.O. Rosti, Rasim O Rosti, Rasim O. Rosti, Rasim Ozgur Rosti, Rasim Ozgür Rosti, Rasim Özgür Rosti, Rasim O. Rosti

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

Howard Hughes Medical Institute University of California San Diego Rockefeller University National Research Centre Broad Institute

RÖ

About

Rasim Özgür Rosti is an author at Howard Hughes Medical Institute specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	21	2.3K
2	Natural Sciences	2	2	421
3	Social Sciences	2	2	322
4	Health Sciences	1	1	112
5	Biology	1	1	99

Rasim Özgür Rosti

Publications

3.2K

Citations

H-Index

Page 1

	Year	Citations
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Science Neurological DisorderGeneticsNetwork AnalysisGene DiscoveryDisease Gene Identification	2014	526
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Nature Genetics Signal TransductionSignaling PathwayCell SignalingMedicinePhosphatidyl Inositol	2009	408
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Cell	2014	280
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Nature Genetics Molecular NeuroscienceOmega-3 Fatty AcidPhysiologyAutophagyLethal Microcephaly Syndrome	2015	209
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Nature Genetics Cell AutophagyMitophagyBiallelic MutationsCerebellar AtrophyMendelian Disorder	2015	134
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome Susanne Roosing, Matan Hofree, Sehyun Kim, eLife	2015	120
AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder Naiara Akizu, Vincent Cantagrel, Jana Schroth, Cell Is MutatedNeurodegenerative DiseasesNeurophysiologyNeurotransmissionNeuroscience	2013	113
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors Ketu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E. Schaffer, Neuron Developmental AnomalyDevelopmental BiologyBrain DevelopmentNeuroanatomyNeural Progenitors	2014	112
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Nature Genetics BiologyBiallelic MutationsMendelian DisorderGenetic DisorderGenetics	2017	99
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Anide Johansen, Rasim Özgür Rosti, Damir Musaev, The American Journal of Human Genetics Intellectual Disability AccompaniedMendelian DisorderGenetic DisorderGeneticsMolecular Biology	2016	90

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