Publications

   Lab members are listed in bold.
^
Indicates Corresponding author.
* indicates contributed equally.

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.