Cystic Fibrosis, Colorectal Cancer Genetics, Genetic Counseling
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.
National Society of Genetic Counselors
American Board of Genetic Counseling