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James D. Weisfeld-Adams

TitleAsst Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS

    Collapse Biography 
    Collapse awards and honors
    2012 - 2013ACMGF/Genzyme Biochemical Genetics Fellowship Award, American College of Medical Genetics

    Collapse Bibliographic 
    Collapse selected publications
    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. Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 2017 Jan; 40(1):21-48. PMID: 27905001.
      View in: PubMed
    2. Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2017; 35:1-5. PMID: 27858369.
      View in: PubMed
    3. Beard L, Wymore E, Fenton L, Coughlin CR, Weisfeld-Adams JD. Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt. J Inherit Metab Dis. 2017 Jan; 40(1):159-160. PMID: 27832417.
      View in: PubMed
    4. Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2017 Jan; 129:17-25. PMID: 27875746.
      View in: PubMed
    5. Capitena CE, Wagoner HJ, Ruzas CM, Bennett TD, Baker PR, Jung JL, Weisfeld-Adams JD. Rapid resolution of infantile lipemia retinalis following exchange transfusion. J Inherit Metab Dis. 2016 Nov; 39(6):889-890. PMID: 27518769.
      View in: PubMed
    6. Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. J Inherit Metab Dis. 2016 May; 39(3):331-40. PMID: 27038030.
      View in: PubMed
    7. Weisfeld-Adams JD, Tkachuk AK, Maclean KN, Meeks NL, Scott SA. A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. NPJ Genom Med. 2016; 1. PMID: 27840696.
      View in: PubMed
    8. Desai N, Weisfeld-Adams JD, Brodie SE, Cho C, Curcio CA, Lublin F, Rucker JC. Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome. Br J Ophthalmol. 2016 May; 100(5):704-7. PMID: 26307451.
      View in: PubMed
    9. Weisfeld-Adams JD, McCourt EA, Diaz GA, Oliver SC. Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. Mol Genet Metab. 2015 Apr; 114(4):537-46. PMID: 25742969.
      View in: PubMed
    10. Weisfeld-Adams JD, Katz Sand IB, Honce JM, Lublin FD. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain. 2015 Mar; 138(Pt 3):517-39. PMID: 25636970; PMCID: PMC4408438.
    11. Eisenstat DD, Pollack IF, Demers A, Sapp MV, Lambert P, Weisfeld-Adams JD, Burger PC, Gilles F, Davis RL, Packer R, Boyett JM, Finlay JL. Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945. J Neurooncol. 2015 Feb; 121(3):573-81. PMID: 25431150; PMCID: PMC4323766.
    12. Weisfeld-Adams JD, Baker PR. Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence? J Inherit Metab Dis. 2015 Mar; 38(2):365-6. PMID: 25388550.
      View in: PubMed
    13. Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Mol Genet Metab. 2013 Nov; 110(3):241-7. PMID: 23954310.
      View in: PubMed
    14. Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013 Apr 27; 8:63. PMID: 23621943; PMCID: PMC3659005.
    15. Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C. Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis. 2013 Mar 22; 8:46. PMID: 23521865; PMCID: PMC3610301.
    16. Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur J Med Genet. 2012 Dec; 55(12):732-6. PMID: 23059467.
      View in: PubMed
    17. Chui JV, Weisfeld-Adams JD, Tepperberg J, Mehta L. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH. Am J Med Genet A. 2011 Oct; 155A(10):2508-11. PMID: 21998864.
      View in: PubMed
    18. Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab. 2010 Feb; 99(2):116-23. PMID: 19836982; PMCID: PMC2914534.
    19. Weisfeld-Adams JD, Frank Y, Havalad V, Hojsak JM, Posada R, Kaicker SM, Wistinghausen B. Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease. Childs Nerv Syst. 2009 Feb; 25(2):153-9. PMID: 19023578.
      View in: PubMed
    20. Weisfeld-Adams JD, Dutton GN, Murphy DM. Vincristine sulfate as a possible cause of optic neuropathy. Pediatr Blood Cancer. 2007 Feb; 48(2):238-40. PMID: 16206187.
      View in: PubMed
    21. Weisfeld-Adams JD, Carter MR, Likeman MJ, Rankin J. Three sisters with Chiari I malformation with and without associated syringomyelia. Pediatr Neurosurg. 2007; 43(6):533-8. PMID: 17992048.
      View in: PubMed
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