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Kathryn Elaine Singh

Photo of Kathryn Elaine Singh
Title(s)Health Sciences Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 456-2340
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    Collapse Biography 
    Collapse education and training
    University of California, Irvine, Irvine, CAMS2011Genetic Counseling
    Columbia University, New York, NYMPH2006Epidemiology

    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. 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. Analysis of financial barriers experienced by prospective genetic counseling students. Genet Med. 2024 Nov; 26(11):101175. Lee D, Platt J, Flodman PL, Singh KE, Quintero-Rivera F. PMID: 38850131.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID. Pediatrics. 2024 May 01; 153(5). Green DM, Lahiri T, Raraigh KS, Ruiz F, Spano J, Antos N, Bonitz L, Christon L, Gregoire-Bottex M, Hale JE, Langfelder-Schwind E, La Parra Perez Á, Maguiness K, Massie J, McElroy-Barker E, McGarry ME, Mercier A, Munck A, Oliver KE, Self S, Singh K, Smiley M, Snodgrass S, Tluczek A, Tuley P, Lomas P, Wong E, Hempstead SE, Faro A, Ren CL. PMID: 38577740; PMCID: PMC11781860.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansPHPublic Health
    3. Clinical implications of conflicting variant interpretations in the cancer genetics clinic. Genet Med. 2023 07; 25(7):100837. Zukin E, Culver JO, Liu Y, Yang Y, Ricker CN, Hodan R, Sturgeon D, Kingham K, Chun NM, Rowe-Teeter C, Singh K, Zell JA, Ladabaum U, McDonnell KJ, Ford JM, Parmigiani G, Braun D, Kurian AW, Gruber SB, Idos GE. PMID: 37057674; PMCID: PMC10416421.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report. BMC Pediatr. 2023 03 18; 23(1):122. Phung V, Singh KE, Danon S, Tan CA, Dabagh S. PMID: 36932325; PMCID: PMC10024442.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med. 2020 02; 8(2):e1027. Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. PMID: 31872981; PMCID: PMC7005623.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    6. 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, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
      View in: PubMed   Mentions: 115     Fields:    Translation:HumansCells
    7. 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; PMCID: PMC6426632.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    8. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017 May; 173(5):1319-1327. Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, UCLA Clinical Genomics Center, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. PMID: 28296084; PMCID: PMC7033032.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    9. 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
    10. 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; PMCID: PMC4270106.
      View in: PubMed   Mentions: 45     Fields:    
    11. 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: 14     Fields:    Translation:HumansCells
    12. 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: 5     Fields:    Translation:HumansPHPublic Health
    13. Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress. Clin Genet. 2013 Nov; 84(5):464-72. Culver JO, Brinkerhoff CD, Clague J, Yang K, Singh KE, Sand SR, Weitzel JN. PMID: 23323793; PMCID: PMC3751990.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    14. 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: 12     Fields:    Translation:Humans
    15. 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: 15     Fields:    Translation:Humans
    16. 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; PMCID: PMC3109566.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    17. Disruption of the p53-Mdm2 complex by Nutlin-3 reveals different cancer cell phenotypes. Ethn Dis. 2008; 18(2 Suppl 2):S2-1-8. Arva NC, Talbott KE, Okoro DR, Brekman A, Qiu WG, Bargonetti J. PMID: 18646312; PMCID: PMC3535287.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    18. A CYP19 (aromatase) polymorphism is associated with increased premenopausal breast cancer risk. Breast Cancer Res Treat. 2008 Oct; 111(3):481-7. Talbott KE, Gammon MD, Kibriya MG, Chen Y, Teitelbaum SL, Long CM, Gurvich I, Santella RM, Ahsan H. PMID: 17975727.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    19. Mitomycin-DNA adducts induce p53-dependent and p53-independent cell death pathways. ACS Chem Biol. 2007 Jun 15; 2(6):399-407. Boamah EK, White DE, Talbott KE, Arva NC, Berman D, Tomasz M, Bargonetti J. PMID: 17530733; PMCID: PMC2886584.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    20. Mouse double minute 2 associates with chromatin in the presence of p53 and is released to facilitate activation of transcription. Cancer Res. 2006 Apr 01; 66(7):3463-70. White DE, Talbott KE, Arva NC, Bargonetti J. PMID: 16585169.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    21. A chromatin-associated and transcriptionally inactive p53-Mdm2 complex occurs in mdm2 SNP309 homozygous cells. J Biol Chem. 2005 Jul 22; 280(29):26776-87. Arva NC, Gopen TR, Talbott KE, Campbell LE, Chicas A, White DE, Bond GL, Levine AJ, Bargonetti J. PMID: 15908423.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansCells
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