Pathology

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In the News

  • UCLA Newsroom - Genetic sequencing unravels rare disease mysteries
  • Science Daily - Exome sequencing improves doctors’ ability to diagnose hard-to-pin-down neurogenetic disorders
  • NBC News - Whole-Gene Scan Analyzes Mystery Illnesses in Kids
  • CAP Today - Paths to validating next-gen sequencing assays
  • Genomeweb - Clinical Exomes Take Off:  UCLA Launches Dx Test
  • Genomeweb - ACMG Issues Guidelines for Labs Offering Clinical NGS Tests

Publications

  1. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. PMID: 25326637
  2. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183. Epub 2014 Jan 9. PMID: 24406459 [PubMed - in process]
  3. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Jul 25. doi: 10.1038/gim. 2013.92. PMID:23887774
  4. Clinical application of next-generation sequencing to the practice of neurology. Rexach J, Lee H, Martinez-Agosto JA, Nemeth AH, Fogel BL. Lancet Neurology.2019 May 1:18(5):492-503. DOI:10.1016/S1474-4422(19)30033-X. PMID:30981321
  5. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. JAMA Neurol. 2014 Oct 1;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. PMID: 25133958 [PubMed - in process]
  6. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development. Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. PMID: 25383892
  7. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49. PMID: 24886118 [PubMed - indexed for MEDLINE]
  8. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L5, Barthelemy F8, Miceli MC8, Quintero-Rivera F1,Kantarci S1, Strom SP1, Deignan JL1; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF.
  9. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi:10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. PubMed PMID: 28132692; PubMed Central PMCID: PMC5294886.
  10. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Stiles A.R., Simon M.T, Stover A., Eftekharian S., Khanlou N., Wang H.L., Magaki S., Lee H., Partynski K., Dorrani N., Chang R., Martinez-Agosto J.A., Abdenur J.E. ScienceDirect. 2016 Sept: 119(1-2): 91-99. DOI:10.1016/j.ymgme.2016.07.001
  11. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. European journal of human genetics : EJHG vol. 23,11 (2015): 1473-81. doi:10.1038/ejhg.2015.71