Publications

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

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.

Publications

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

2022

2021^

2021^

2021

2021

2021

2021

2021

2021^

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

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

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

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

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

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

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

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

2016

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

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

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.

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

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.