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Last Name
Institution

Gropman, Andrea

TitleMD
InstitutionChildrens National Medical Center
DepartmentNeurology
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4763511
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Khan OI, Zhou X, Leon J, Kessler R, Gaughan T, D'Souza P, Gropman A, Cohen N, Rennert O, Buckley A, Inati S, Thurm A. Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. Epilepsy Behav. 2018 03; 80:312-320. PMID: 29402632.
      View in: PubMed
    2. Whitehead MT, Wien M, Lee B, Bass N, Gropman A. Response regarding involvement of the cerebral veins in MELAS syndrome. Neuroradiology. 2017 Oct; 59(10):947-949. PMID: 28801831.
      View in: PubMed
    3. Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Hum Mutat. 2017 10; 38(10):1412-1420. PMID: 28675565.
      View in: PubMed
    4. Whitehead MT, Wien M, Lee B, Bass N, Gropman A. Black Toenail Sign in MELAS Syndrome. Pediatr Neurol. 2017 Oct; 75:61-65. PMID: 28818358.
      View in: PubMed
    5. Whitehead MT, Wien M, Lee B, Bass N, Gropman A. Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. Neuroradiology. 2017 Aug; 59(8):813-818. PMID: 28667360.
      View in: PubMed
    6. Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). Prenat Diagn. 2017 May; 37(5):497-501. PMID: 28346690.
      View in: PubMed
    7. Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. Hum Genet. 2017 04; 136(4):409-420. PMID: 28213671.
      View in: PubMed
    8. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45. PMID: 27841880.
      View in: PubMed
    9. Whitehead MT, Lee B, Gropman A. Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease. Pediatr Radiol. 2017 01; 47(1):126-127. PMID: 27826678.
      View in: PubMed
    10. Lau MW, Lee RW, Miyamoto R, Jung ES, Yanjanin Farhat N, Yoshida S, Mori S, Gropman A, Baker EH, Porter FD. Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. Diseases. 2016 Sep 08; 4(3). PMID: 28933409.
      View in: PubMed
    11. Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 2017 03; 19(3):297-305. PMID: 27513191.
      View in: PubMed
    12. Samango-Sprouse C, Kirkizlar E, Hall MP, Lawson P, Demko Z, Zneimer SM, Curnow KJ, Gross S, Gropman A. Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. PLoS One. 2016; 11(8):e0161045. PMID: 27512996; PMCID: PMC4981345.
      View in: PubMed, PubMed Central
    13. Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017 02; 19(2):160-168. PMID: 27388694.
      View in: PubMed
    14. Whitehead MT, Helman G, Gropman AL. MR Imaging Findings in Xp21.2 Duplication Syndrome. J Radiol Case Rep. 2016 May; 10(5):9-14. PMID: 27761175.
      View in: PubMed
    15. Waisbren SE, Gropman AL. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 07; 39(4):573-84. PMID: 27215558.
      View in: PubMed
    16. Whitehead MT, Lee B, Gropman A. Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity. Pediatr Radiol. 2016 Aug; 46(9):1309-16. PMID: 27043731.
      View in: PubMed
    17. Samango-Sprouse C, Lawson P, Sprouse C, Stapleton E, Sadeghin T, Gropman A. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech. Am J Med Genet A. 2016 May; 170A(5):1312-6. PMID: 26833960.
      View in: PubMed
    18. Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Am J Hum Genet. 2016 Feb 04; 98(2):339-46. PMID: 26805780; PMCID: PMC4746335.
      View in: PubMed, PubMed Central
    19. Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. Am J Med Genet A. 2015 Oct; 167A(10):2251-9. PMID: 26086740.
      View in: PubMed
    20. Pacheco-Colón I, Washington SD, Sprouse C, Helman G, Gropman AL, VanMeter JW. Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency. PLoS One. 2015; 10(6):e0129595. PMID: 26067829; PMCID: PMC4466251.
      View in: PubMed, PubMed Central
    21. Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, Venditti CP. Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). Am J Med Genet A. 2015 Sep; 167A(9):2075-84. PMID: 25959030.
      View in: PubMed
    22. Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet C Semin Med Genet. 2015 Jun; 169(2):150-7. PMID: 25939399.
      View in: PubMed
    23. Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):128-140. PMID: 25943031.
      View in: PubMed
    24. Whitehead MT, Fricke ST, Gropman AL. Structural brain defects. Clin Perinatol. 2015 Jun; 42(2):337-61, ix. PMID: 26042908.
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    25. Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. MED23-associated intellectual disability in a non-consanguineous family. Am J Med Genet A. 2015 Jun; 167(6):1374-80. PMID: 25845469.
      View in: PubMed
    26. 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. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701. PMID: 25503498; PMCID: PMC5000852.
      View in: PubMed, PubMed Central
    27. Helman G, Pacheco-Colón I, Gropman AL. The urea cycle disorders. Semin Neurol. 2014 Jul; 34(3):341-9. PMID: 25192511.
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    28. Baker EH, Sloan JL, Hauser NS, Gropman AL, Adams DR, Toro C, Manoli I, Venditti CP. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. AJNR Am J Neuroradiol. 2015 Jan; 36(1):194-201. PMID: 25190203.
      View in: PubMed
    29. Lee R, Apkarian K, Jung ES, Yanjanin N, Yoshida S, Mori S, Park J, Gropman A, Baker EH, Porter FD. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014 Nov; 51(5):669-674.e5. PMID: 25194719; PMCID: PMC4696056.
      View in: PubMed, PubMed Central
    30. Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56. PMID: 25038129.
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    31. Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB. Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. Lancet Neurol. 2014 Aug; 13(8):777-87. PMID: 24997880.
      View in: PubMed
    32. Schreiber JM, Lanham DC, Trescher WH, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB. Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients. Neurology. 2014 Jul 08; 83(2):151-9. PMID: 24920862; PMCID: PMC4117167.
      View in: PubMed, PubMed Central
    33. Avula S, Parikh S, Demarest S, Kurz J, Gropman A. Treatment of mitochondrial disorders. Curr Treat Options Neurol. 2014 Jun; 16(6):292. PMID: 24700433.
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    34. Sprouse C, King J, Helman G, Pacheco-Colón I, Shattuck K, Breeden A, Seltzer R, VanMeter JW, Gropman AL. Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):136-41. PMID: 24881970; PMCID: PMC4458385.
      View in: PubMed, PubMed Central
    35. Pacheco-Colón I, Fricke S, VanMeter J, Gropman AL. Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):118-26. PMID: 25066103; PMCID: PMC4177962.
      View in: PubMed, PubMed Central
    36. Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Donahue TP, Gropman AL. Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities. Am J Med Genet A. 2014 Jun; 164A(6):1464-9. PMID: 24715716.
      View in: PubMed
    37. Pearl PL, Sable C, Evans S, Knight J, Cunningham P, Lotrecchiano GR, Gropman A, Stuart S, Glass P, Conway A, Ramadan I, Paiva T, Batshaw ML, Packer RJ. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. PMID: 24660879.
      View in: PubMed
    38. Samango-Sprouse CA, Stapleton EJ, Aliabadi F, Graw R, Vickers R, Haskell K, Sadeghin T, Jameson R, Parmele CL, Gropman AL. Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months. Autism. 2015 Apr; 19(3):327-37. PMID: 24550549.
      View in: PubMed
    39. Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2014 May; 37(3):415-20. PMID: 24500076.
      View in: PubMed
    40. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. PMID: 24375884.
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    41. Lee RW, Conley SK, Gropman A, Porter FD, Baker EH. Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2013 Oct; 161A(10):2407-19. PMID: 23918729.
      View in: PubMed
    42. Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol. 2013 Aug; 74(2):164-70. PMID: 23775934.
      View in: PubMed
    43. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. PMID: 23891656.
      View in: PubMed
    44. Segal MM, Williams MS, Gropman AL, Torres AR, Forsyth R, Connolly AM, El-Hattab AW, Perlman SJ, Samanta D, Parikh S, Pavlakis SG, Feldman LK, Betensky RA, Gospe SM. Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol. 2014 Apr; 29(4):487-92. PMID: 23576414.
      View in: PubMed
    45. Gropman AL. Mitochondrial mechanisms and neurological disorders. Neurotherapeutics. 2013 Apr; 10(2):185. PMID: 23444003; PMCID: PMC3625390.
      View in: PubMed, PubMed Central
    46. Gropman AL. Neuroimaging in mitochondrial disorders. Neurotherapeutics. 2013 Apr; 10(2):273-85. PMID: 23208728; PMCID: PMC3625392.
      View in: PubMed, PubMed Central
    47. Turnacioglu S, Gropman AL. Developmental and psychiatric presentations of inherited metabolic disorders. Pediatr Neurol. 2013 Mar; 48(3):179-87. PMID: 23419468.
      View in: PubMed
    48. Samango-Sprouse CA, Gropman AL. Introduction: past, present, and future care of individuals with XXY. Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):1-2. PMID: 23359594.
      View in: PubMed
    49. Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL. Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):27-34. PMID: 23359595.
      View in: PubMed
    50. Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):44-9. PMID: 23359596.
      View in: PubMed
    51. Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet A. 2013 Mar; 161A(3):501-8. PMID: 23345253.
      View in: PubMed
    52. Gropman A, Samango-Sprouse CA. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):35-43. PMID: 23335129.
      View in: PubMed
    53. Rieger D, Auerbach S, Robinson P, Gropman A. Neuroimaging of lipid storage disorders. Dev Disabil Res Rev. 2013; 17(3):269-82. PMID: 23798015.
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    54. Gropman AL. Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 2012 Dec; 19(4):203-10. PMID: 23245553; PMCID: PMC3758694.
      View in: PubMed, PubMed Central
    55. Gropman AL, Prust M, Breeden A, Fricke S, VanMeter J. Urea cycle defects and hyperammonemia: effects on functional imaging. Metab Brain Dis. 2013 Jun; 28(2):269-75. PMID: 23149878; PMCID: PMC3594356.
      View in: PubMed, PubMed Central
    56. Agochukwu NB, Solomon BD, Gropman AL, Muenke M. Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. Pediatr Neurol. 2012 Nov; 47(5):355-61. PMID: 23044018.
      View in: PubMed
    57. Solomon BD, Pineda-Alvarez DE, Gropman AL, Willis MJ, Hadley DW, Muenke M. High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly. Mol Syndromol. 2012 Sep; 3(3):140-142. PMID: 23112757.
      View in: PubMed
    58. O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics. 2012 Jun; 129(6):e1541-51. PMID: 22614770.
      View in: PubMed
    59. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37. PMID: 22521361; PMCID: PMC3340505.
      View in: PubMed, PubMed Central
    60. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E. So what? Does the test lead to improved health outcomes? Neurology. 2012 Feb 07; 78(6):440-1; author reply 441-2. PMID: 22311931.
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    61. Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet. 2012 Feb 10; 90(2):295-300. PMID: 22305531; PMCID: PMC3276655.
      View in: PubMed, PubMed Central
    62. Gropman AL, Shattuck K, Prust MJ, Seltzer RR, Breeden AL, Hailu A, Rigas A, Hussain R, VanMeter J. Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study. Hum Brain Mapp. 2013 Apr; 34(4):753-61. PMID: 22110002; PMCID: PMC3338900.
      View in: PubMed, PubMed Central
    63. Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5. PMID: 22078457.
      View in: PubMed
    64. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25; 77(17):1629-35. PMID: 21956720.
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    65. Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med. 2012 Jan; 14(1):51-9. PMID: 22237431.
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    66. Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Acute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25. PMID: 22000903.
      View in: PubMed
    67. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9. PMID: 21986446.
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    68. Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33. PMID: 21963082.
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    69. Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A. MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol. 2011 Jul; 45(1):57-9. PMID: 21723463; PMCID: PMC3129538.
      View in: PubMed, PubMed Central
    70. Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism. Mol Genet Metab. 2011 Nov; 104(3):195-205. PMID: 21778100; PMCID: PMC3758691.
      View in: PubMed, PubMed Central
    71. Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol. 2010; 1(5):211-222. PMID: 22125506.
      View in: PubMed
    72. Samango-Sprouse CA, Gropman AL, Sadeghin T, Kingery M, Lutz-Armstrong M, Rogol AD. Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr. 2011 Jun; 100(6):861-5. PMID: 21362043.
      View in: PubMed
    73. Gropman AL. Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post-mortem diagnosis. Dev Med Child Neurol. 2011 Jun; 53(6):487-8. PMID: 21518342.
      View in: PubMed
    74. Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38. PMID: 21176882.
      View in: PubMed
    75. Gropman AL, Batshaw ML. Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches. J Dev Behav Pediatr. 2010 Sep; 31(7):582-91. PMID: 20814257.
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    76. Dubourg C, David V, Gropman A, Mercier S, Muenke M, Odent S, Pineda-Alvarez DE, Roessler E. Clinical utility gene card for: Holoprosencephaly. Eur J Hum Genet. 2011 Jan; 19(1):preceeding 118-20. PMID: 20648050; PMCID: PMC3039493.
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    77. Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, Mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sprouse CA. Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. Am J Med Genet A. 2010 Jun; 152A(6):1523-30. PMID: 20503329.
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    78. Gropman AL, Gertz B, Shattuck K, Kahn IL, Seltzer R, Krivitsky L, Van Meter J. Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol. 2010 Oct; 31(9):1719-23. PMID: 20488904; PMCID: PMC3758695.
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    79. Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, Roessler E, Muenke M. A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. Mol Syndromol. 2010; 1(2):59-66. PMID: 21045958.
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    80. Gropman A. Brain imaging in urea cycle disorders. Mol Genet Metab. 2010; 100 Suppl 1:S20-30. PMID: 20207564; PMCID: PMC3258295.
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    81. Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 05; 153B(1):132-40. PMID: 19415691.
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    82. Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL. Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 2010 Jan; 42(1):49-52. PMID: 20004862; PMCID: PMC3758690.
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    83. Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 2010; 16(2):129-35. PMID: 20818727.
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    84. Levin SW, Baker EH, Gropman A, Quezado Z, Miao N, Zhang Z, Jollands A, Di Capua M, Caruso R, Mukherjee AB. Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis. Arch Neurol. 2009 Dec; 66(12):1567-71. PMID: 20008666.
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    85. Solomon BD, Pineda-Alvarez DE, Balog JZ, Hadley D, Gropman AL, Nandagopal R, Han JC, Hahn JS, Blain D, Brooks B, Muenke M. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet A. 2009 Nov; 149A(11):2543-6. PMID: 19876904.
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    86. Wolters PL, Gropman AL, Martin SC, Smith MR, Hildenbrand HL, Brewer CC, Smith AC. Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. Pediatr Neurol. 2009 Oct; 41(4):250-8. PMID: 19748044.
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    87. Miao N, Levin SW, Baker EH, Caruso RC, Zhang Z, Gropman A, Koziol D, Wesley R, Mukherjee AB, Quezado ZM. Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia. Anesth Analg. 2009 Aug; 109(2):372-8. PMID: 19608805.
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    88. Gropman AL, Sailasuta N, Harris KC, Abulseoud O, Ross BD. Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults. Radiology. 2009 Sep; 252(3):833-41. PMID: 19567648; PMCID: PMC2734894.
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    89. Sailasuta N, Robertson LW, Harris KC, Gropman AL, Allen PS, Ross BD. Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe. J Magn Reson. 2008 Dec; 195(2):219-25. PMID: 18829354; PMCID: PMC2610418.
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    90. Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):21-30. PMID: 18662894; PMCID: PMC3724938.
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    91. Hsieh DT, Gropman AL, Pearl PL. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. PMID: 18710135.
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    92. Gropman AL, Seltzer RR, Yudkoff M, Sawyer A, VanMeter J, Fricke ST. 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. Mol Genet Metab. 2008 May; 94(1):52-60. PMID: 18262815; PMCID: PMC2486377.
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    93. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008 Feb 07; 358(6):592-604. PMID: 18256394.
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    94. Gropman AL, Summar M, Leonard JV. Neurological implications of urea cycle disorders. J Inherit Metab Dis. 2007 Nov; 30(6):865-79. PMID: 18038189.
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    95. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. PMID: 17607705.
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    96. Gropman AL, Elsea S, Duncan WC, Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34. PMID: 17351481.
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    97. Gropman AL, Adams DR. Atypical patterns of inheritance. Semin Pediatr Neurol. 2007 Mar; 14(1):34-45. PMID: 17331882.
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    98. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52. PMID: 17079881.
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    99. Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol. 2006 May; 34(5):337-50. PMID: 16647992.
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    100. Levin BC, Sekiguchi K, Tully LA, Chen TL, Gropman A. The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives. Mitochondrion. 2005 Dec; 5(6):403-10. PMID: 16172025.
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    101. Gropman AL. Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):2-9. PMID: 16276565.
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    102. Gropman AL. The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. Mitochondrion. 2004 Sep; 4(5-6):503-20. PMID: 16120409.
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    103. Pearl PL, Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. PMID: 15048909.
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    104. Gropman AL, Batshaw ML. Cognitive outcome in urea cycle disorders. Mol Genet Metab. 2004 Apr; 81 Suppl 1:S58-62. PMID: 15050975.
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    105. Gropman A. Imaging of neurogenetic and neurometabolic disorders of childhood. Curr Neurol Neurosci Rep. 2004 Mar; 4(2):139-46. PMID: 14984686.
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    106. Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A. 2004 Feb 01; 124A(4):377-82. PMID: 14735585.
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    107. Pramatarova A, Ochalski PG, Chen K, Gropman A, Myers S, Min KT, Howell BW. Nck beta interacts with tyrosine-phosphorylated disabled 1 and redistributes in Reelin-stimulated neurons. Mol Cell Biol. 2003 Oct; 23(20):7210-21. PMID: 14517291; PMCID: PMC230306.
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    108. Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. PMID: 12743223.
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    109. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet. 2003 May; 72(5):1315-22. PMID: 12687499; PMCID: PMC1180285.
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    110. Gropman A. Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 Suppl 6:S66-72. PMID: 12891656.
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    111. Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A. A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. Am J Med Genet. 2002 Nov 15; 113(1):59-64. PMID: 12400067.
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    112. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25. PMID: 12180145.
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    113. Wong LJ, Dai P, Tan D, Lipson M, Grix A, Sifry-Platt M, Gropman A, Chen TJ. Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. Am J Med Genet. 2001 Jul 22; 102(1):95-9. PMID: 11471180.
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    114. Wagner KR, Hamed S, Hadley DW, Gropman AL, Burstein AH, Escolar DM, Hoffman EP, Fischbeck KH. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol. 2001 Jun; 49(6):706-11. PMID: 11409421.
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    115. Gropman AL. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep. 2001 Mar; 1(2):185-94. PMID: 11898515.
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    116. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18; 95(5):461-6. PMID: 11146467.
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    117. Gropman AL, Packer RJ, Nicholson HS, Vezina LG, Jakacki R, Geyer R, Olson JM, Phillips P, Needle M, Broxson EH, Reaman G, Finlay J. Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. Cancer. 1998 Jul 01; 83(1):166-72. PMID: 9655307.
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    118. Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer RJ. Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. Neuropediatrics. 1997 Aug; 28(4):198-203. PMID: 9309709.
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