Last Name

James Weisfeld-Adams

InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences

     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. 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.
      View in: PubMed
    2. 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; 8:46.
      View in: PubMed
    3. 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.
      View in: PubMed
    4. 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.
      View in: PubMed
    5. Woodbridge TR, Weisfeld-Adams JD, Wilkins EC, Estela CM, Young AE. Epidemiology and severity of paediatric burn injuries occurring during camping and caravanning holidays. Burns. 2010 Nov; 36(7):1096-100.
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    6. 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.
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    7. 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.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. 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.
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