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Reza Maroofian

University College London

ORCID: 0000-0001-6763-1542

Publishes on Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology. 316 papers and 6.1k citations.

PubIndex Score98Top 2% · mid-careerHow it's scored

316Publications

6.1kTotal Citations

First senior author: 2017

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Mitochondrial Function and Pathology Cellular transport and secretion RNA regulation and disease

Top publicationsby citations

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Nynke Oosterhof, James T. Bennett, Irene J. Chang et al.|The American Journal of Human Genetics|2019

Cited by 263

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Alison M. Muir, Christine L. Dixon et al.|Nature Communications|2019

Cited by 249

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Andrew H. Crosby, Anna Lehman et al.|Brain|2013

Cited by 143

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Denise Yan, Mustafa Tekin, Demet Tekin et al.|Human Genetics|2016

Cited by 139

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Stefano Volpi, Rae S. M. Yeung, Maria Pia Cicalese et al.|Journal of Allergy and Clinical Immunology|2019

Cited by 119