Reza Maroofian - Concepedia

Author

Reza Maroofian

Also Known As

Angela Mammana, Ellen R Elias, Gaurav K. Varshney, Guarav K. Varshney, Maha S. Zaki, Maroofian, Reza, R Maroofian, R. Maroofian, Reza Maroofian, Stanislav Groppa

314

Publications

5.7K

Citations

H-Index

120

Concepts

All Affiliations

University College London National Hospital for Neurology and Neurosurgery St George's, University of London Mashhad University of Medical Sciences Inserm

About

Reza Maroofian is an author at University College London specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	29	53	2.2K
2	Health Sciences	4	4	122
3	Arts	2	2	74
4	Natural Sciences	2	2	82
5	Public Health	1	1	136

Reza Maroofian

138

Publications

Citations

H-Index

Page 1

	Year	Citations
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, The American Journal of Human Genetics Pediatric-onset LeukoencephalopathyHomozygous MutationsNeurological DisorderMedicineImmunology	2019	254
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, Brain GeneticsGlycobiologyMolecular BiologyMolecular GeneticsComplex Ganglioside Biosynthesis	2013	139
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents Denise Yan, Demet Tekin, Güney Bademci, Human Genetics Allelic VariantMultiple ContinentsMendelian DisorderGenetic DisorderGenetics	2016	136
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Journal of Clinical Investigation Myelin DevelopmentMyelin SheathNeurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological Disease	2019	101
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, Nature Communications	2020	91
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease Gillian Rice, Naoki Kitabayashi, Magalie Barth, Neuropediatrics	2017	90
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Shereen G. Ghosh, Kerstin Becker, He Huang, The American Journal of Human Genetics Biallelic MutationsGenetic DisorderEncoding Adp-ribosylhydrolase 3GeneticsInherited Metabolic Disease	2018	85
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, The American Journal of Human Genetics	2020	81
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro, Brain Brain DevelopmentGeneticsMolecular BiologyNeurodevelopmentCerebral Organoid	2017	72

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