Irina Anselm
Irina Anselm, MD
Fellow in Bioethics

Irina Anselm, MD, is an attending physician in neurology at Boston Children’s Hospital. She received her MD from St. Petersburg Pediatric Medical University in Russia. As more and more genetic testing options become available, the more ethical dilemmas arise in areas such as the dissemination of test results, health care coverage, and public health care policy; she is interested in these ethical aspects surrounding genetic testing. She received the Making a Change for Mito Award from the MitoAction: Mitochondrial Disease Action Committee.

Publications View
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.
Authors: Authors: Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT.
JIMD Rep
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Authors: Authors: Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.
Epilepsia
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Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Authors: Authors: Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR.
Am J Med Genet A
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The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Authors: Authors: Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O.
Mov Disord Clin Pract
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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Authors: Authors: Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT.
Mol Genet Metab
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GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
Authors: Authors: Hall PL, Laine R, Alexander JJ, Ankala A, Teot LA, Lidov HGW, Anselm I.
JIMD Rep
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Response to Newman et al.
Authors: Authors: Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.
Genet Med
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Authors: Authors: Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.
Genet Med
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Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
Authors: Authors: Al-Ghamdi F, Anselm I, Yang E, Ghosh PS.
Neuromuscul Disord
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AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Authors: Authors: Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB.
Cold Spring Harb Mol Case Stud
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