Irina Anselm

3.1k citations

29 papers · 1.2k indexed · 1 hit paper · h-index 16

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders 11
Molecular Biology top 10%
- Mitochondrial Function and Pathology 12
- Epigenetics and DNA Methylation 4
Genetics top 10%
- Genetic Syndromes and Imprinting 4
Biochemistry top 10%
Cellular and Molecular Neuroscience
- Genetic Neurodegenerative Diseases 5
Pediatrics, Perinatology and Child Health
- Prenatal Screening and Diagnostics 4
Rheumatology
- Glycogen Storage Diseases and Myoclonus 3
Cell Biology
- Cellular transport and secretion 3

Co-authors: Marni J. Falk Sumit Parikh Bruce H. Cohen Richard Haas Russell P. Saneto Philip G. Morgan Salvatore DiMauro Carol L. Greene
Cited by: Clinical Biochemistry Molecular Biology Genetics
Partner nations: United States Japan Hong Kong

In The Last Decade

Irina Anselm

28 papers receiving 1.2k citations

Hit Papers

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What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

2014 Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Peers

Countries citing papers authored by Irina Anselm

Since Specialization

Citations

This map shows the geographic impact of Irina Anselm's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Irina Anselm with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Irina Anselm more than expected).

Fields of papers citing papers by Irina Anselm

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Irina Anselm. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Irina Anselm. The network helps show where Irina Anselm may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Irina Anselm, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Irina Anselm Line = papers co-authored together Irina Anselm links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Patient selection considerations for AADC deficiency gene therapy Agathe Roubertie,Irina Anselm,Bruria Ben‐Zeev,Wuh‐Liang Hwu,Ashutosh Kumar,Berrin Monteleone,Shin‐ichi Muramatsu,Vincenzo Leuzzi,Salvador Ibáñez,Scellig Stone,Phillip L. Pearl	2024	5
2	Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder Milena M. Andzelm,Shanti Balasubramaniam,Edward Yang,Alison G. Compton,Kate Millington,Jia Zhu,Irina Anselm,Lance H. Rodan,David R. Thorburn,John Christodoulou,Siddharth Srivastava	2022	2
3	Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase Didem Demirbas,David J. Harris,Pamela Arn,Xiaoping Huang,Susan E. Waisbren,Irina Anselm,Jordan Lerner‐Ellis,Lee‐Jun Wong,Harvey L. Levy,Gerard T. Berry	2019	7
4	A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome Julia Han,Terry Jo Bichell,Stephanie Golden,Irina Anselm,Susan E. Waisbren,Carlos A. Bacino,Sarika U. Peters,Lynne M. Bird,Virginia Kimonis	2019	3
5	Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype Valerie Gartner,Thomas C. Markello,Ellen F. Macnamara,Andrea De Biase,Audrey Thurm,Lisa Joseph,Alan H. Beggs,Jeremy D. Schmahmann,Gerard T. Berry,Irina Anselm,Emma Boslet,Cynthia J. Tifft,William A. Gahl,Paul R. Lee	2018	15
6	5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination Lance H. Rodan,Wanshu Qi,Gregory S. Ducker,Didem Demirbas,Regina Laine,Edward Yang,Melissa Walker,Florian Eichler,Joshua D. Rabinowitz,Irina Anselm,Gerard T. Berry	2018	14
7	AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant Sarah U. Morton,Sanjay P. Prabhu,Hart G.W. Lidov,Jiahai Shi,Irina Anselm,Catherine A. Brownstein,Matthew N. Bainbridge,Alan H. Beggs,Sara O. Vargas,Pankaj B. Agrawal	2017	39
8	Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation Fouad Alghamdi,Irina Anselm,Edward Yang,Partha S. Ghosh	2017	1
9	Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency Irina Anselm,Morgan MacCuaig,Sanjay Prabhu,Gerard T. Berry	2016	13
10	Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease Mugdha Joshi,Irina Anselm,Jiahai Shi,Tejus Bale,Meghan C. Towne,Klaus Schmitz‐Abe,Laura Crowley,Felix C. Giani,Shideh Kazerounian,Kyriacos Markianos,Hart G.W. Lidov,Rebecca D. Folkerth,Vijay G. Sankaran,Pankaj B. Agrawal	2016	31
11	Succinyl-CoA synthetase ( SUCLA2 ) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion Xiaoping Huang,Jirair K. Bedoyan,Didem Demirbas,David J. Harris,Alexander Miron,Simone Edelheit,George Grahame,Suzanne D. DeBrosse,Lee-Jun Wong,Charles L. Hoppel,Douglas S. Kerr,Irina Anselm,Gerard T. Berry	2016	21
12	Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation Marisela Dy-Hollins,Florence Chang,Sol De Jesus,Irina Anselm,Neil Mahant,Pamela Zeilman,Lance H. Rodan,Kelly D. Foote,Wen‐Hann Tan,Emad Eskandar,Nutan Sharma,Michael S. Okun,Victor S.C. Fung,Jeff L. Waugh	2016	35
13	Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Societybreakdown → Sumit Parikh,Amy Goldstein,Mary Kay Koenig,Fernando Scaglia,Gregory M. Enns,Russell P. Saneto,Irina Anselm,Bruce H. Cohen,Marni J. Falk,Carol L. Greene,Andrea Gropman,Richard Haas,Michio Hirano,Philip G. Morgan,Katherine B. Sims,Mark A. Tarnopolsky,Johan L.K. Van Hove,Lynne A. Wolfe,Salvatore DiMauro	2014	372
14	Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene Gena Heidary,Laurel Calderwood,Gerald F. Cox,Caroline D. Robson,Lisa A. Teot,Jennifer Mullon,Irina Anselm	2013	21
15	Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I Saumya Shekhar Jamuar,Stephanie A. Newton,Sanjay P. Prabhu,Leah Hecht,K.C. Costas,Ann Wessel,David J. Harris,Irina Anselm,Gerard T. Berry	2012	14
16	A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome Lynne M. Bird,Wen‐Hann Tan,Carlos A. Bacino,Sarika U. Peters,Steven A. Skinner,Irina Anselm,Rene Barbieri‐Welge,Astrid Bauer‐Carlin,Jennifer Gentile,Daniel G. Glaze,Lucia T. Horowitz,Kriti Mohan,Mark Nespeca,Trilochan Sahoo,Dean Sarco,Susan E. Waisbren,Arthur L. Beaudet	2011	35
17	Angelman syndrome: Mutations influence features in early childhood Wen‐Hann Tan,Carlos A. Bacino,Steven A. Skinner,Irina Anselm,Rene Barbieri‐Welge,Astrid Bauer‐Carlin,Arthur L. Beaudet,Terry Jo Bichell,Jennifer Gentile,Daniel G. Glaze,Lucia T. Horowitz,Sanjeev V. Kothare,Hye‐Seung Lee,Mark Nespeca,Sarika U. Peters,Trilochan Sahoo,Dean Sarco,Susan E. Waisbren,Lynne M. Bird	2010	93
18	Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid Sarika U. Peters,Lynne M. Bird,Virginia Kimonis,Daniel G. Glaze,Lina Shinawi,Terry Jo Bichell,Rene Barbieri‐Welge,Mark Nespeca,Irina Anselm,Susan E. Waisbren,Erica Sanborn,Qin Sun,William E. O’Brien,Arthur L. Beaudet,Carlos A. Bacino	2010	32
19	A modern approach to the treatment of mitochondrial disease (unknown),Sumit Parikh,Russell P. Saneto,Marni J. Falk,Irina Anselm,Bruce H. Cohen,Richard Haas	2009	252
20	Progressive Intracranial Vascular Disease with Strokes and Seizures in a Boy with Progeria N. Paul Rosman,Irina Anselm,Rafeeque Bhadelia	2001	14

About Irina Anselm

Irina Anselm is a scholar working on Clinical Biochemistry, Cell Biology and Molecular Biology, having authored 29 papers that have together received 1.2k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (12 papers), Metabolism and Genetic Disorders (11 papers), Genetic Neurodegenerative Diseases (5 papers), Genetic Syndromes and Imprinting (4 papers), Epigenetics and DNA Methylation (4 papers), Prenatal Screening and Diagnostics (4 papers), Glycogen Storage Diseases and Myoclonus (3 papers) and Cellular transport and secretion (3 papers). The work is most often cited by research in Clinical Biochemistry (477 citations), Molecular Biology (810 citations) and Genetics (303 citations). Irina Anselm has collaborated with scholars based in United States, Japan and Hong Kong. Frequent co-authors include Marni J. Falk, Sumit Parikh, Bruce H. Cohen, Richard Haas, Russell P. Saneto, Philip G. Morgan, Salvatore DiMauro, Carol L. Greene, Katherine B. Sims and Lynne A. Wolfe.

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