Kathryn Singh • UCI Profiles (original) (raw)

  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: 15 Fields:
  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: 1 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: 1 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: 6 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: 122 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: 8 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: 31 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: 4 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: 13 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: 24 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

This graph shows the number and percent of publications by field. Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications. Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written. To see the data as text, click here.

This graph shows the number and percent of publications by field. Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications. Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written. To see the data as text, click here.

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