Kathryn E. Singh, MPH, MS, LCGC
- Professor — Division of Genetic and Genomic Medicine, Pediatrics
- Assistant Director — Genetic Counseling Graduate Program, Pediatrics
- Colorectal Cancer Genetics
- Cystic Fibrosis
- Genetic Counseling
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
