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Kathryn Elaine Singh

Title(s)Associate Clinical Professor, Pediatrics
Address1001 Health Sciences Road
Irvine CA 92697-3950
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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. 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. PMID: 31607746.
      View in: PubMed   Mentions: 6     Fields:    
    2. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 03; 179(3):498-502. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. PMID: 30676690.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. 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. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. PMID: 28256045.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Colorectal Cancer Incidence Among Young Adults in California. J Adolesc Young Adult Oncol. 2014 Dec 01; 3(4):176-184. Singh KE, Taylor TH, Pan CG, Stamos MJ, Zell JA. PMID: 25538862.
      View in: PubMed   Mentions: 14     Fields:    
    5. 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. Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. PMID: 24677774.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    6. 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. Williams SN, Nussbaum E, Chin TW, Do PC, Singh KE, Randhawa I. PMID: 24535988.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    7. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan; 15(1):79-83. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. PMID: 22918513.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    8. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. PMID: 21594997.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    9. A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation. Breast Cancer Res. 2011 Jan 11; 13(1):R3. Brekman A, Singh KE, Polotskaia A, Kundu N, Bargonetti J. PMID: 21223569.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
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