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Chapman, Kimberly

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4765278
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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. Ito S, Chapman KA, Kisling M, John AS. Appropriate Use of Genetic Testing in Congenital Heart Disease Patients. Curr Cardiol Rep. 2017 Mar; 19(3):24. PMID: 28224467.
      View in: PubMed
    2. Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017 Jan; 40(1):49-74. PMID: 27778219.
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    3. Galetta KM, Chapman KR, Essis MD, Alosco ML, Gillard D, Steinberg E, Dixon D, Martin B, Chaisson CE, Kowall NW, Tripodis Y, Balcer LJ, Stern RA. Screening Utility of the King-Devick Test in Mild Cognitive Impairment and Alzheimer Disease Dementia. Alzheimer Dis Assoc Disord. 2016 Jun 13. PMID: 27299935.
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    4. Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. Mol Genet Metab. 2016 Mar; 117(3):355-62. PMID: 26740382; PMCID: PMC4852394 [Available on 12/01/16].
    5. Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Baric I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016 May; 39(3):341-53. PMID: 26689403.
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    6. Viall S, Jain S, Chapman K, Ah Mew N, Summar M, Kirmse B. Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Mol Genet Metab. 2015 Dec; 116(4):226-30. PMID: 26549574.
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    7. Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov; 38(6):1155-6. PMID: 26077420.
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    8. Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov; 38(6):1157-8. PMID: 26077421.
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    9. Mew NA, Viall S, Kirmse B, Chapman KA. Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate. Adv Neonatal Care. 2015 Aug; 15(4):241-7; quiz E1-2. PMID: 26225592.
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    10. Chapman KA, Bush WS, Zhang Z. Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls. Mol Genet Metab. 2015 Aug; 115(4):174-9. PMID: 25963861; PMCID: PMC4522369.
    11. Kölker S, Garcia-Cazorla A, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov; 38(6):1041-57. PMID: 25875215.
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    12. Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A, Garcia Cazorla A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov; 38(6):1059-74. PMID: 25875216.
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    13. Guillen Sacoto MJ, Chapman KA, Heath D, Seprish MB, Zand DJ. An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine. Mol Genet Metab Rep. 2015 Jun; 3:47-54. PMID: 26937396; PMCID: PMC4750614.
    14. Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9. PMID: 25809939.
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    15. Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 02; 96(4):675-81. PMID: 25817015; PMCID: PMC4385183.
    16. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 02; 9:130. PMID: 25205257; PMCID: PMC4180313.
    17. Kruszka PS, Kirmse B, Zand DJ, Cusmano-Ozog K, Spector E, Van Hove JL, Chapman KA. Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Mol Genet Metab Rep. 2014; 1:237-240. PMID: 27896094.
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    18. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10; 82(23):2063-71. PMID: 24808023; PMCID: PMC4118500.
    19. Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. Mol Genet Metab Rep. 2014; 1:66-70. PMID: 27896076.
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    20. 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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    21. Chapman KA. Commentary. Clin Chem. 2013 Oct; 59(10):1445. PMID: 24077788.
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    22. Vockley J, Chapman KA, Arnold GL. Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab. 2013 Apr; 108(4):203-5. PMID: 23428739.
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    23. Chapman KA, Summar ML, Enns GM. Propionic acidemia: to liver transplant or not to liver transplant? Pediatr Transplant. 2012 May; 16(3):209-10. PMID: 22332632.
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    24. Dingley S, Chapman KA, Falk MJ. Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines. Methods Mol Biol. 2012; 837:231-9. PMID: 22215552; PMCID: PMC3590112.
    25. 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.
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    26. Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet A. 2011 Oct; 155A(10):2489-95. PMID: 21998853; PMCID: PMC3197730.
    27. 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; PMCID: PMC4133996.
    28. 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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    29. 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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    30. Chapman KA, Summar ML. Propionic acidemia consensus conference summary. Mol Genet Metab. 2012 Jan; 105(1):3-4. PMID: 21908219.
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    31. Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A. 2010 Jan; 152A(1):196-202. PMID: 20034085; PMCID: PMC2801886.
    32. Chapman KA, Bennett MJ, Sondheimer N. Increased C3-carnitine in a healthy premature infant. Clin Chem. 2008 Nov; 54(11):1914-7; discussion 1917-8. PMID: 18957557.
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    33. Chapman KA, Cavalieri EL, Rogan EG. Repair of short oligodeoxyribonucleotides containing a stable adduct and an apurinic site by extracts of MCF-10A1 cells. Anticancer Res. 2004 Jan-Feb; 24(1):117-21. PMID: 15015585.
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