Kathryn Elaine Singh

picture of Kathryn Elaine Singh

Health Sciences Associate Clinical Professor, Pediatrics
School of Medicine

Assistant Director, Genetic Counseling Graduate Program, Pediatrics
School of Medicine

M.S., University of California, Irvine, 2011, Genetic Counseling
M.P.H., Columbia University, 2006, Epidemiology
B.S., University of Maryland, 2002, Microbiology

Phone: (714) 456-2340
Email: kesingh@uci.edu

University of California, Irvine
101 The City Drive
Mail Code: ZC4482
Orange, CA 92868
Research Interests
Cystic Fibrosis, Colorectal Cancer Genetics, Genetic Counseling
Lee H, Huang A, Wang L, Yoon A, 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 D, 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. Diagnostic utility of transcriptome sequencing for rare mendelian diseases. 2020. Genetics in Medicine. 22(3): 490-499. PMID 31607746
Powis Z, Hagman K, Blanco K, Au M, Graham J, Singh, K; Gallant N, Randolph L, Towne M, Hunter J, Shinde D, Palmaer E, Schoenfeld B, Tang S. 2019. When Moments Matter: Finding Answers with Rapid Exome Sequencing. 2020. Molecular Genetics & Genomic Medicine. 8(2): e1027. PMID 31872981
Haanpaa MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. 2019. ALG11-CDG syndrome: expanding the phenotype. Am J Med Genet A. 179(3):498-502.
Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. 2017. 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. 173(6):1663-1667.
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh KE, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. 2017. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 173(5):1319-1327.
Singh KE, Taylor TH, Pan CJ, Stamos MJ, Zell JE. 2014. Colorectal cancer incidence among young adults in California. JAYAO. 3(4): 176-184.
Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. 2014. 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. 164(7): 1761-4.
Williams SN, Nussbaum E, Chin T, Do PCM, Singh KE, Randhawa I. 2014. 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. Pediatric Pulmonology 49(3):E103-8.
Culver JO, Brinkerhoff CF, Clague J, Yang K, Singh KE, Sand SR, Weitzel JN. 2013. Variants of Uncertain Significance in BRCA Testing: Evaluation of Surgical Decisions, Risk Perception, and Cancer Distress. Clinical Genetics 84(5): 464-472.
Kimonis VE, Singh KE, Zhong R, Pastakia B, DiGiovanna JJ, Bale SJ. 2013. Clinical and Radiological Features in Young Individuals with Nevoid Basal Cell Carcinoma Syndrome. Genetics in Medicine 15(1):79-83.
Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. 2011. An Additional Patient with Mycophenolate Mofetil Embryopathy: Cardiac and Facial Analyses. Am J Med Genet A 155(4): 748-56.
Brekman A, Singh KE, Polotskaia A, Bargonetti J. 2011. A p53-independent role of Mdm2 in estrogen- mediated activation of breast cancer cell proliferation. Breast Cancer Res 13(1): R3.
Talbott KE, Gammon MD, Kibriya MG, Chen Y, Teitelbaum SL, Long CM, Gurvich I, Santella RM, Ahsan H. 2008. A CYP19 (Aromatase) Polymorphism is Associated with Increased Breast Cancer Risk in Subset of Long Island Breast Cancer Study Project Population. Breast Cancer Res Treat 111: 481-7.
Arva N, Talbott KE, Okoro DR, Brekman A, Qiu WG, Bargonetti J. 2008. Disruption of the p53-Mdm2 complex by Nutlin-3 reveals different cancer cell phenotypes. Ethn Dis 18 (2 Suppl): S2-1-8.
Boamah E, White D, Talbott KE, Arva NC, Berman D, Tomasz M, Bargonetti J. 2007. Mitomycin-DNA Adducts Induce p53-Dependent and p53-Independent Cell Death Pathways. ACS Chem Biol 2: 399-407.
White D, Talbott KE, Arva NC, Bargonetti J. 2006. Mdm2 Associates with Chromatin in the Presence of p53 and is Released to Facilitate Activation of Transcription. Cancer Res 66: 3463-3470.
Arva N, Gopen T, Talbott KE, Campbell LE, Chicas A, White DE, Bond GL, Levine AJ, Bargonetti J. 2005. A Chromatin Associated and Transcriptionally Inactive p53-MDM2 Complex Occurs in MDM2 SNP309 Homozygous Cells. J Biol Chem 280: 26776-87.
Professional Societies
National Society of Genetic Counselors
American Board of Genetic Counseling
Graduate Programs
Genetic Counseling

Medical Genetics

Pediatrics/Medical Genetics

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