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Irina Anselm | Researchclopedia

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Irina Anselm

Boston Children's Hospital ORCID

50

Works

3,083

Citations

25

h-index

31

i10-index

Research Topics

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Genetic Neurodegenerative Diseases

Affiliations

Tufts University2001–2001

Boston Children's Hospital2006–2025

Cleveland Clinic2009–2009

Harvard University2006–2025

Tufts Children's Hospital2001–2001

Top Works

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh,Amy Goldstein,et al.

2014588 citations

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

David T. Miller,Yiping Shen,et al.

2008430 citations

A modern approach to the treatment of mitochondrial disease

The Mitochondrial Medicine Society,Sumit Parikh,et al.

2009341 citations

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh,Amy Goldstein,et al.

2017286 citations

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp,Ofir T. Betsalel,et al.

2013162 citations

Angelman syndrome: Mutations influence features in early childhood

Wen‐Hann Tan,Carlos A. Bacino,et al.

2010130 citations

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine,Tianyun Wang,et al.

2021111 citations

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto,Iva A. Tchasovnikarova,et al.

2020108 citations

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

McKenna Kelly,Meredith Park,et al.

201973 citations