Lab members are listed in bold.
^ Indicates Dr. Turner is Corresponding author.
* indicates contributed equally.
| 2024 | Starosta R.T., Jensen N., Couteranis S., Slaugh R., Easterlin D., Tate V., Sams E.I., Valle K., Akinwe T., Hou Y.C., Turner T.N., Cole F.S., Milbrandt J., Dickson P. Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome. Eur J Hum Genet. 2024 Jul 7. doi: 10.1038/s41431-024-01667-y. Epub ahead of print. PMID: 38972963. |
| 2024 | Sandin S., Yip B.H.K., Yin W., Weiss L.A., Dougherty J.D., Fass S., Constantino J.N., Hailin Z., Turner T.N., Marrus N., Gutmann D.H., Sanders S.J., Christoffersson B. Examining Sex Differences in Autism Heritability. JAMA Psychiatry. 2024 Jul 1;81(7):673-680. doi: 10.1001/jamapsychiatry.2024.0525. PMID: 38630491; PMCID: PMC11024771. |
| 2024 | Critical Assessment of Genome Interpretation Consortium. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6. PMID: 38389099; PMCID: PMC10882881. |
| 2024 | Hayeck T.J., Li Y., Mosbruger T.L., Bradfield J.P., Gleason A.G., Damianos G., Shaw G.T., Duke J.L., Conlin L.K., Turner T.N., Fernández-Viña M.A., Sarmady M., Monos D.S. The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection. Genome Biol Evol. 2024 Feb 1;16(2):evae009. doi: 10.1093/gbe/evae009. PMID: 38302106; PMCID: PMC10853003. |
| 2024 | Ng J.K., Turner T.N. HAT: de novo variant calling for highly accurate short-read and long-read sequencing data. Bioinformatics. 2024 Jan 2;40(1):btad775. doi: 10.1093/bioinformatics/btad775. PMID: 38175776; PMCID: PMC10777354. |
| 2023 | Wilson A.F., Barakat R., Mu R., Karush L.L., Gao Y., Hartigan K.A., Chen J.K., Shu H., Turner T.N., Maloney S.E., Mennerick S.J., Gutmann D.H., Anastasaki C. A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells. Hum Mol Genet. 2023 Sep 15:ddad155. doi: 10.1093/hmg/ddad155. Epub ahead of print. PMID: 37712888. |
| 2023 | Turner T.N. Acorn: an R package for de novo variant analysis. BMC Bioinformatics. 2023 Sep 2;24(1):330. doi: 10.1186/s12859-023-05457-z. PMID: 37660114; PMCID: PMC10475174. |
| 2023 | Tayebi N., Leon-Ricardo B., McCall K., Mehinovic E., Engelstad K., Huynh V., Turner T.N., Weisenberg J., Thio L.L., Hruz P., Williams R.S.B., De Vivo D.C., Petit V., Haller G., Gurnett C.A. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. PMID: 37000947; PMCID: PMC10187726. |
| 2023 | Payne Z.L., Penny G.M., Turner T.N., Dutcher S.K. A gap-free genome assembly of Chlamydomonas reinhardtii and detection of translocations induced by CRISPR-mediated mutagenesis. Plant Commun. 2023 Mar 13;4(2):100493. doi: 10.1016/j.xplc.2022.100493. Epub 2022 Nov 17. PMID: 36397679; PMCID: PMC10030371. |
| 2022^ | Ng J.K., Vats P., Fritz-Waters E., Sarkar S., Sams E.I., Padhi E.M., Payne Z.L., Leonard S., West M.A., Prince C., Trani L., Jansen M., Vacek G., Samadi M., Harkins T.T., Pohl C., Turner T.N. de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project. Hum Mutat. 2022 Sep 2. doi: 10.1002/humu.24455. Epub ahead of print. PMID: 36054329. |
| 2022 | Zhou X., Feliciano P., Shu C., Wang T., Astrovskaya I., Hall J.B., Obiajulu J.U., Wright J.R., Murali S.C., Xu S.X., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Snyder L.G., Han B., Chang T.S., Turner T.N., Harvey W.T., Nishida A., O’Roak B.J., Geschwind D.H.; SPARK Consortium, Michaelson J.J., Volfovsky N., Eichler E.E., Shen Y., Chung W.K. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022 Aug 18. doi: 10.1038/s41588-022-01148-2. Epub ahead of print. PMID: 35982159. |
| 2022^ | Mehinovic E., Gray T., Campbell M., Ekholm J., Wenger A., Rowell W., Grudo A., Grimwood J., Korlach J., Gurnett C., Constantino J.N., Turner T.N.^ Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing. Am J Med Genet A. 2022 Jul;188(7):2071-2081. doi: 10.1002/ajmg.a.62743. Epub 2022 Apr 2. PMID: 35366058; PMCID: PMC9197999. |
| 2022 | Hayeck T.J., Stong N., Baugh E., Dhindsa R., Turner T.N., Malakar A., Mosbruger T.L., Shaw G.T., Duan Y., Ionita-Laza I., Goldstein D., Allen A.S.. Ancestry adjustment improves genome-wide estimates of regional intolerance. Genetics. 2022 May 31;221(2):iyac050. doi: 10.1093/genetics/iyac050. PMID: 35385101; PMCID: PMC9157129. |
| 2021^ | Sams E.I., Ng J.K., Tate V., Hao Y.C., Cao Y., Antonacci-Fulton L., Belhassan K., Neidich J., Mitra R.D., Cole F.S., Dickson P., Milbrandt J., Turner T.N.^ From Karyotypes to Precision Genomics in 9p Deletion and Duplication Syndromes. HGG Advances. Epub ahead of print. Open Access. Published: December 23, 2021. DOI: https://doi.org/10.1016/j.xhgg.2021.100081 |
| 2021^ | Padhi E.M.*, Ng J.K.*, Mehinovic E.*, Sams E.I., Turner T.N.^ ACES: Analysis of Conservation with an Extensive list of Species. Bioinformatics. 2021 Oct 2:btab684. doi: 10.1093/bioinformatics/btab684. Epub ahead of print. PMID: 34601580. |
| 2021 | Ziffra R.S., Kim C.N., Ross J.M., Wilfert A., Turner T.N., Haeussler M., Casella A.M., Przytycki P.F., Keough K.C., Shin D., Bogdanoff D., Kreimer A., Pollard K.S., Ament S.A., Eichler E.E., Ahituv N., Nowakowski T.J. Single-cell epigenomics reveals mechanisms of human cortical development. Nature. 2021 Oct;598(7879):205-213. doi: 10.1038/s41586-021-03209-8. Epub 2021 Oct 6. PMID: 34616060. |
| 2021 | Marrus N., Turner T.N., Forsen E., Bolster D., Marvin A., Whitehouse A., Klinger L., Gurnett C.A., Constantino J.N. Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk. J Neurodev Disord. 2021 Sep 16;13(1):39. doi: 10.1186/s11689-021-09389-8. PMID: 34530736; PMCID: PMC8447585. |
| 2021 | Goldmann J.M., Hampstead J.E., Wong W.S.W., Wilfert A.B., Turner T.N., Jonker M.A., Bernier R., Huynen M.A., Eichler E.E., Veltman J.A., Maxwell G.L., Gilissen C. Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity. Genome Res. 2021 Sep;31(9):1513-1518. doi: 10.1101/gr.271809.120. Epub 2021 Jul 23. PMID: 34301630; PMCID: PMC8415378. |
| 2021 | Wilfert A.B., Turner T.N., Murali S.C., Hsieh P., Sulovari A., Wang T., Coe B.P., Guo H., Hoekzema K., Bakken T.E., Winterkorn L.H., Evani U.S., Byrska-Bishop M., Earl R.K., Bernier R.A.; SPARK Consortium, Zody MC, Eichler EE. Recent ultra-rare inherited variants implicate new autism candidate risk genes. Nat Genet. 2021 Aug;53(8):1125-1134. doi: 10.1038/s41588-021-00899-8. Epub 2021 Jul 26. PMID: 34312540; PMCID: PMC8459613. |
| 2021 | Meganathan K., Prakasam R., Baldridge D., Gontarz P., Zhang B., Urano F., Bonni A., Maloney S.E., Turner T.N., Huettner J.E., Constantino J.N., Kroll K.L. Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7. BMC Biol. 2021 Jul 28;19(1):147. doi: 10.1186/s12915-021-01080-7. PMID: 34320968; PMCID: PMC8317352. |
| 2021^ | Padhi E.M., Hayeck T.J., Cheng Z., Chatterjee S., Mannion B.J., Byrska-Bishop M., Willems M., Pinson L., Redon S., Benech C., Uguen K., Audebert-Bellanger S., Le Marechal C., Férec C., Efthymiou S., Rahman F., Maqbool S., Maroofian R., Houlden H., Musunuri R., Narzisi G., Abhyankar A., Hunter R.D., Akiyama J., Fries L.E., Ng J.K., Mehinovic E., Stong N., Allen A.S., Dickel D.E., Bernier R.A., Gorkin D.U., Pennacchio L.A., Zody M.C., Turner T.N.^, Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. PMID: 34256850; PMCID: PMC8278787. |
| 2021 | Ramirez E., Morris S.M., Turner T.N., Gutmann D.H. Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation. Neurol Genet. 2021 Mar 26;7(3):e582. doi: 10.1212/NXG.0000000000000582. PMID: 33884301 |
| 2021^ | Hall A.N., Turner T.N.^, Queitsch C.^ Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans. Sci Rep. 2021 Jan 11;11(1):449. doi: 10.1038/s41598-020-80049-y. PMID: 33432083 |
| 2021 | Sadler B., Wilborn J., Antunes L., Kuensting T., Hale A.T., Gannon S.R., McCall K., Cruchaga C., Harms M., Voisin N., Reymond A., Cappuccio G., Brunetti-Pierri N., Tartaglia M., Niceta M., Leoni C., Zampino G., Ashley-Koch A., Urbizu A., Garrett M.E., Soldano K., Macaya A., Conrad D., Strahle J., Dobbs M.B., Turner T.N., Shannon C.N., Brockmeyer D., Limbrick D.D., Gurnett C.A., Haller G.. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. PMID: 33352116 |
| 2020^ | Ng J., Sams E., Baldridge D., Kremitzki M., Wegner D.J., Lindsay T., Fulton R., Cole F.S., Turner T.N.^ Precise breakpoint detection in a patient with 9p- syndrome. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005348. doi: 10.1101/mcs.a005348. PMID: 32532883. |
| 2019 | Turner T.N., Wilfert A.B., Bakken T.E., Bernier R.A., Pepper M.R., Zhang Z., Torene R.I., Retterer K., Eichler E.E. Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27. PubMed PMID: 31785789. |
| 2019 | Turner T.N. Large-Scale Population-Based Assessment of Psychiatric Comorbidities in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder. Biol Psych. 2019 Oct. Early online access. |
| 2019 | 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. |
| 2019 | 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. |
| 2019 | 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. |
| 2018 | 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. |
| 2018 | 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. |
| 2018 | 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. |
| 2018 | 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. |
| 2017 | 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. |
| 2017 | 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. |
| 2017 | 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. |
| 2017 | 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. |
| 2017 | 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. |
| 2016 | 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. |
| 2016 | 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. |
| 2016 | 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. |
| 2016 | 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. |
| 2016 | 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. |
| 2015 | 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. |
| 2015 | Krumm, N.*, Turner T.N.*, Baker C., Vives L., Mohajeri K., Witherspoon K., Raja A., Coe B.P., Stessman H.A., He Z.X., Leal S.M., Bernier R. and Eichler E.E., Excess of rare, inherited truncating mutations in autism. Nat Genet, 2015. 47(6): p. 582-8. PMID: 25961944; PMCID: PMC4449286. |
| 2015 | 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. |
| 2015 | Niranjan, T.S., Skinner C., May N, Turner T., Rose R., Stevenson R., Schwartz C.E. and Wang T., 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. |
| 2013 | Turner, T., Plot protein: visualization of mutations. J Clin Bioinforma, 2013. 3(1): p. 14. PMID: 23876180 PMCID: PMC3724591. |
| 2012 | 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. |
| 2011 | 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. |