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Kathryn Elaine Singh

Title(s)Associate Clinical Professor, Pediatrics
Phone(714) 456-2340
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2019 Oct 14. PMID: 31607746.
      View in: PubMed
    2. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 Mar; 179(3):498-502. PMID: 30676690.
      View in: PubMed
    3. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations. Am J Med Genet A. 2017 Jun; 173(6):1663-1667. PMID: 28256045.
      View in: PubMed
    4. Singh KE, Taylor TH, Pan CG, Stamos MJ, Zell JA. Colorectal Cancer Incidence Among Young Adults in California. J Adolesc Young Adult Oncol. 2014 Dec 01; 3(4):176-184. PMID: 25538862.
      View in: PubMed
    5. Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. Am J Med Genet A. 2014 Jul; 164A(7):1761-4. PMID: 24677774.
      View in: PubMed
    6. Williams SN, Nussbaum E, Chin TW, Do PC, Singh KE, Randhawa I. Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time. Pediatr Pulmonol. 2014 Mar; 49(3):E103-8. PMID: 24535988.
      View in: PubMed
    7. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan; 15(1):79-83. PMID: 22918513.
      View in: PubMed
    8. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. PMID: 21594997.
      View in: PubMed
    9. Brekman A, Singh KE, Polotskaia A, Kundu N, Bargonetti J. A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation. Breast Cancer Res. 2011 Jan 11; 13(1):R3. PMID: 21223569.
      View in: PubMed