Kathryn Singh • UCI Profiles

Kathryn Elaine Singh

Title(s)	Health Sciences Professor, Pediatrics
School	School of Medicine
Address	1001 Health Sciences Road Irvine CA 92697-3950
Phone	(714) 456-2340
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Bibliographic

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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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.

Clinical implications of conflicting variant interpretations in the cancer genetics clinic. Genet Med. 2023 Jul; 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:
Gen Genetics
Translation:Humans
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:
Ped Pediatrics
Translation:Humans
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: 84 Fields:
Gen Genetics
Translation:Humans Cells
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: 4 Fields:
Gen Genetics
Translation:Humans Cells
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:
Gen Genetics
Translation:Humans
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: 39 Fields:
Neo Neoplasms Ped Pediatrics
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: 11 Fields:
Gen Genetics
Translation:Humans Cells
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:
Ped Pediatrics Pul Pulmonary Medicine
Translation:Humans PHPublic Health
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: 11 Fields:
Gen Genetics
Translation:Humans
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: 13 Fields:
Gen Genetics
Translation:Humans
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: 54 Fields:
Neo Neoplasms
Translation:Humans Cells