Tychele N. Turner, Ph.D.

Assistant Professor

Human and Statistical Genetics Program
Computational and Systems Biology Program
Molecular Genetics and Genomics Program

  • 314-273-8517

  • 5101 Couch Biomedical Research Bldg.

  • tychele@wustl.edu

  • genomics, genetics, autism, neurodevelopmental disorders, complex disease, noncoding, enhancers, whole-genome sequencing, whole-exome sequencing, single-nucleotide variation, insertions/deletions, copy number variation, structural variation

  • Discovery and characterization of genetic etiological factors involved in neurodevelopmental disorders

Research Abstract:

My research focus is on the discovery and characterization of genetic etiological factors involved in neurodevelopmental disorders (NDDs). Most of my work has applied genetic and functional approaches to understand autism with a focus on de novo and rare inherited variants, the potential underpinnings of the sex bias, birth order effects, and clustering of disease mutations in the primary protein structure. While there has been considerable progress in our understanding of the genetics of NDDs through the use of exome and array technologies there still remains an appreciable gap in understanding of their genetic architecture. Therefore, one major area of recent focus is variation in the noncoding genome.

Main areas of work in the lab include assessment of whole-exome sequencing and whole-genome sequencing data in families with neurodevelopmental disorders, variant prioritization using functional genomic data, massively parallel reporter assays, and other functional experiments assessing consequences of variation.

Selected Publications:

Feliciano P.*, Zhou X.*, Astrovskaya I.*, Turner T.N.*, Wang T., Brueggeman L., Barnard R., Hsieh A., Snyder L.G., Muzny D.M., Sabo A.; SPARK Consortium, Gibbs R.A., Eichler E.E., O'Roak B.J., Michaelson J.J., Volfovsky N., Shen Y., Chung W.K. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. PubMed PMID: 31452935; PubMed Central PMCID: PMC6707204. *these authors contributed equally to this work.

Beighley J.S., Hudac C.M., Arnett A.B., Peterson J.L., Gerdts J., Wallace A.S., Mefford H.C., Hoekzema K., Turner T.N., O’Roak B.J., Eichler E.E., Bernier R.A. Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes. Biol Psych. 2019 July 30

Tilghman J.M., Ling A.Y., Turner T.N., Sosa M.X., Krumm N., Chatterjee S., Kapoor A., Coe B.P., Nguyen K.H., Gupta N., Gabriel S., Eichler E.E., Berrios C., Chakravarti A. Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. N Engl J Med. 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594. PubMed PMID: 30970187.

Turner T.N., Eichler E.E. The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders. Trends Neurosci. 2019 Feb;42(2):115-127. doi: 10.1016/j.tins.2018.11.002. Epub 2018 Dec 15. Review. PubMed PMID: 30563709.

Guo H., Duyzend M.H., Coe B.P., Baker C., Hoekzema K., Gerdts J., Turner T.N., Zody M.C., Beighley J.S., Murali S.C., Nelson B.J.; University of Washington Center for Mendelian Genomics, Bamshad M.J., Nickerson D.A., Bernier R.A., Eichler E.E. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2018 Dec 3. doi: 10.1038/s41436-018-0380-2. PubMed PMID: 30504930.

Arnett A.B., Rhoads C.L., Hoekzema K., Turner T.N., Gerdts J., Wallace A.S., Bedrosian-Sermone S., Eichler E.E., Bernier R.A. The autism spectrum phenotype in ADNP syndrome. Autism Res. 2018 Aug 14. doi: 10.1002/aur.1980. PubMed PMID: 30107084.

Arnett A.B., Cairney B.E., Wallace A.S., Gerdts J., Turner T.N., Eichler E.E., Bernier R.A. Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk. J Child Psychol Psychiatry. 2018 Mar;59(3):268-276. doi: 10.1111/jcpp.12815. PubMed PMID: 28921525; PubMed Central PMCID: PMC5812799.

Wilfert A.B., Sulovari A., Turner T.N., Coe B.P., Eichler E.E. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. Genome Med. 2017 Nov 27;9(1):101. doi: 10.1186/s13073-017-0498-x. Review. PubMed PMID: 29179772; PubMed Central PMCID: PMC5704398.

Earl R.K., Turner T.N., Mefford H.C., Hudac C.M., Gerdts J., Eichler E.E., Bernier R.A. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Mol Autism. 2017. Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017. PubMed PMID: 29034068; PubMed Central PMCID: PMC5629761.

Turner T.N., Coe B.P., Dickel D.E., Hoekzema K., Nelson B.J., Zody M.C., Kronenberg Z.N., Hormozdiari F., Raja A., Pennacchio L.A., Darnell R.B., Eichler E.E. Genomic Patterns of De Novo Mutation in Simplex Autism. Cell. 2017 Oct 19;171(3):710-722.e12. doi: 10.1016/j.cell.2017.08.047. Epub 2017 Sep 28. PubMed PMID: 28965761.

Arnett A.B., Cairney B.E., Wallace A.S., Gerdts J., Turner T.N., Eichler E.E., Bernier R.A. Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk. Journal of Child Psychology and Psychiatry. 2017. Sept 18;59(3):268-276. PMID: 28921525. PMCID: PMC5812799.

Geisheker M.R., Heymann G., Wang T., Coe B.P., Turner T.N., Stessman H.A.F., Hoekzema K., Kvarnung M., Shaw M., Friend K., et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience. 2017. 20(8): p. 1043-1051. PMID: 28628100 ; PMCID: PMC5539915.

Cai B., Li B., Kiga N., Thusberg J., Bergquist T., Chen Y., Niknafs N., Carter H., Tokheim C., Beleva-Guthrie V., Douville C., Bhattacharya T., Yeo G., Ting H., Fan J., Sengupta S., Kim D., Cline M., Turner T., et al. Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Human Mutation. 2017. 38(9): p. 1266-1276. PMID: 28544481.

Wang T., Guo H., Xiong B., Stessman H.A., Wu H., Coe B.P., Turner T.N., Liu Y., Zhao W., Hoekzema K., et al. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016 Nov 8; 7:13316. PMID: 27824329.

Turner T.N.*, Yi Q., Krumm N., Huddleston J., Hoekzema K., Stessman H.A.F., Doebley A., Bernier R.A., Nickerson D.A., Eichler, E.E. denovo-db: a compendium of human de novo variants. Nucleic Acids Research. 2016. PMID: 27907889 ; PMCID: PMC5210614. * Corresponding author

Chakravarti A., Turner T.N. Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families. Bioessays. 2016 Apr 8. PMID: 27062178.

Stessman H.A., Turner T.N., Eichler E.E. Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med. 2016 Feb 25;8(1):22. PMID: 26917491; PMCID: PMC4766622.

Turner, T.N., F. Hormozdiari, M.H. Duyzend, S.A. McClymont, P.W. Hook, I. Iossifov, A. Raja, C. Baker, K. Hoekzema, H.A. Stessman, M.C. Zody, B.J. Nelson, J. Huddleston, R. Sandstrom, J.D. Smith, D. Hanna, J.M. Swanson, E.M. Faustman, M.J. Bamshad, J. Stamatoyannopoulos, D.A. Nickerson, A.S. McCallion, R. Darnell and E.E. Eichler, Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet, 2016. 98(1): p. 58-74. PMID: 26749308; PMCID: PMC4716689.

Turner, T.N., C. Douville, D. Kim, P.D. Stenson, D.N. Cooper, A. Chakravarti and R. Karchin, Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Hum Mol Genet, 2015. 24(21): p. 5995-6002. PMID: 26246501.

Krumm, N.*, T.N. Turner*, C. Baker, L. Vives, K. Mohajeri, K. Witherspoon, A. Raja, B.P. Coe, H.A. Stessman, Z.X. He, S.M. Leal, R. Bernier and E.E. Eichler, Excess of rare, inherited truncating mutations in autism. Nat Genet, 2015. 47(6): p. 582-8. *these authors contributed equally to this work. PMID: 25961944; PMCID: PMC4449286.

Turner, T.N., K. Sharma, E.C. Oh, Y.P. Liu, R.L. Collins, M.X. Sosa, D.R. Auer, H. Brand, S.J. Sanders, D. Moreno-De-Luca, V. Pihur, T. Plona, K. Pike, D.R. Soppet, M.W. Smith, S.W. Cheung, C.L. Martin, M.W. State, M.E. Talkowski, E. Cook, R. Huganir, N. Katsanis and A. Chakravarti, Loss of delta-catenin function in severe autism. Nature, 2015. 520(7545): p. 51-6. PMID: 25807484; PMCID: PMC4383723.

Niranjan, T.S., C. Skinner, M. May, T. Turner, R. Rose, R. Stevenson, C.E. Schwartz and T. Wang, Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. PLoS One, 2015. 10(2): p. e0116454. PMID: 25679214; PMCID: PMC4332666.
Turner, T., Plot protein: visualization of mutations. J Clin Bioinforma, 2013. 3(1): p. 14. PMID: 23876180 PMCID: PMC3724591.

Jiang, Q., Turner T., Sosa M.X., Rakha A., Arnold S. and Chakravarti A., Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum Mutat, 2012. 33(1): p. 281-9. PMID: 21898659 PMCID: PMC3240684.

Turner, T., V. Pihur and A. Chakravarti, Quantifying and modeling birth order effects in autism. PLoS One, 2011. 6(10): p. e26418. PMID: 22039484 PMCID: PMC3198479.

Last Updated: 9/11/2019 2:02:58 PM

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