Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG
Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7.
Childhood primary angiitis of the central nervous system: two biopsy-proven cases.
Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155.
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA
American journal of medical genetics. Part A
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90.
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
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
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776.
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
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
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Plasma Membrane Neurotransmitter Transport Proteins
Bullard Professor of Pediatrics and Neurology
Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69.
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.
Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232.
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Bai R, Haude K, Yang E, Goldstein A, Anselm I
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794.
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS
American journal on intellectual and developmental disabilities
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Hwu PW, Kiening K, Anselm I, Compton DR, Nakajima T, Opladen T, Pearl PL, Roubertie A, Roujeau T, Muramatsu SI
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712.
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
Andzelm MM, Balasubramaniam S, Yang E, Compton AG, Millington K, Zhu J, Anselm I, Rodan LH, Thorburn DR, Christodoulou J, Srivastava S
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399.
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
Mary Ellen Avery Professor of Pediatrics
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul; 50(7):463-72.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104(4):e209779.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Brown SD, Kennedy KO, Holder-Niles FF, Anselm IA, Snyder BD, Fogelman D, Kirber MF, Kober G, Holm I, Marron JM
The American journal of bioethics : AJOB
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. Am J Bioeth. 2025 May 23; 1-9.
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley.
Member of Faculty in Psychology in the Department of Psychiatry
Jain V, Yang E, Goldstein A, Anselm IA, Alves C
Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant. Neurology. 2025 Nov 25; 105(10):e214365.
Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant.
Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43.
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
Bowen AB, Nwanze C, Alves C, Rodan L, Pinto AL, Walker MA, Anselm I, Pearl PL
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency. JIMD Rep. 2026 Mar; 67(2):e70072.
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatr Neurol. 2026 Feb; 175:8-18.
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015 Feb; 87(2):141-7.
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S
Genetics in medicine : official journal of the American College of Medical Genetics
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Calderwood L, Holm IA, Teot LA, Anselm I
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016 Feb; 31(2):190-4.
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB
Cold Spring Harbor molecular case studies
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786.
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease.
Dy ME, Chang FC, Jesus SD, Anselm I, Mahant N, Zeilman P, Rodan LH, Foote KD, Tan WH, Eskandar E, Sharma N, Okun MS, Fung VS, Waugh JL
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35.
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131.
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Anselm I, MacCuaig M, Prabhu SB, Berry GT
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111.
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.
Anselm I, MacCuaig M, Prabhu SP, Berry GT
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113.
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.
Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol. 2001 Mar; 16(3):212-5.
Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.
Anselm IA, Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9.
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560.
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313.
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
Parikh S, Saneto R, Falk MJ, Anselm I, Cohen BH, Haas R, Medicine Society TM
A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30.
A modern approach to the treatment of mitochondrial disease.
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. Neuromuscul Disord. 2017 Sep; 27(9):848-851.
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1.
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
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
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12).
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8.
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4.
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
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
Response to Newman et al. Genet Med. 2017 12; 19(12).
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM
Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
Angelman syndrome: Mutations influence features in early childhood.
Hall PL, Laine R, Alexander JJ, Ankala A, Teot LA, Lidov HGW, Anselm I
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. JIMD Rep. 2018; 38:61-65.
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4.
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.