Iakoucheva Lab

University of California - San Diego, Department of Psychiatry

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Selected Publications

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Amar M#, Pramod AB#, Yu N-K, Herrera VM, Qiu LR, Moran-Losada P, Zhang, Trujillo CA, Ellegood, J, Urresti J, Chau K, Diedrich J, Chen J, Gutierrez J, Sebat J, Ramanathan D, Lerch JP, Yates III JR, Muotri AR*, Iakoucheva LM*.
(# equal contribution)
(* Co-corresponding authors)
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling..
Molecular Psychiatry. 2021, in press.[PDF]

Jiang Y,Urressti J, Pagel KA, Pramod AB,Iakoucheva LM,Radivojac P*.
(* Corresponding authors)
Prioritizing autism risk variants with calibrated gene- and variant-specific models..
Bioinformatics, 2021, under review.[PDF]

Chau K, Zhang P, Urressti J, Amar M, Pramod AB, Chen J, Thomas A, Corominas R, Lin GN,Iakoucheva LM*.
(* Corresponding authors)
Full-length isoform transcriptome of developing human brain provides new insights into autism..
Cell Reports. 2021, under review.[PDF]

Urresti J#, Zhang P#, Moran-Losada P, Yu N-K, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB, Diedrich J, Tejwani L, Romero S, Sebat J, Yates III JR, Muotri AR*, Iakoucheva LM*.
(# equal contribution)
(* Co-corresponding authors)
Development Disrupted by 16p11.2 Copy Number Variants in Autism..
Molecular Psychiatry. 2021, under review.[PDF]

Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P.
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2..
Nat Commun. 2020 Nov 20;11(1):5918. doi: 10.1038/s41467-020-19669-x. PMID: 33219223.[PDF]

Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J.
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development..
Cell Reports. 2019 Sep 24;28(13):3320-3328.e4. doi: 10.1016/j.celrep.2019.08.071. PMID: 31553903.[PDF]

Iakoucheva LM, Muotri AR, Sebat J.
Getting to the Cores of Autism..
Cell. 2019 Sep 5;178(6):1287-1298. doi: 10.1016/j.cell.2019.07.037.PMID: 31491383. Review.[PDF]

Pagel KA, Antaki D, Lian A, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P.
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome..
PLoS Comput Biol. 2019 Jun 14;15(6):e1007112. doi: 10.1371/journal.pcbi.1007112. eCollection 2019 Jun. PMID: 31199787.[PDF]

Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Moran Losada P, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE; PsychENCODE Consortium, Peters MA, Gerstein M, Liu C*, Iakoucheva LM*, Pinto D*, Geschwind DH*.
(* Co-corresponding authors)
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder..
Science. 2018 Dec 14;362(6420).pii: eaat8127. doi: 10.1126/science.aat8127.[PDF]
(Featured by STAT media, UCSD)

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J.
Paternally inherited cis-regulatory structural variants are associated with autism..
Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.[PDF]

Pagel KA, Pejaver V, Lin GN, Nam HJ, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P.
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants..
Bioinformatics. 2017 Jul 15;33(14):i389-i398. doi: 10.1093/bioinformatics/btx272.[PDF]

Lin GN, Corominas R, Nam HJ, Urresti J, Iakoucheva LM.
Comprehensive Analyses of Tissue-Specific Networks with Implications to Psychiatric Diseases.
Methods Mol Biol. 2017 2017;1613:371-402. doi: 10.1007/978-1-4939-7027-8_15.[PDF]

Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J*.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Am J Hum Genet. 2016 Apr 7;98(4):667-79. doi: 10.1016/j.ajhg.2016.02.018. [PDF]
(* Corresponding authors)
(Featured by SFARI )

Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM*, Xia Y*, Vidal M*.
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell. 2016 Feb 11;164(4):805-17. doi: 10.1016/j.cell.2016.01.029. [PDF]
(* Co-corresponding authors)
(Featured by UCSD, The Scientist, Science Daily, Science Newsline Medicine, Nature Methods|Research Highlights )

Lin GN*, Corominas R*, Lemmens I, Yang X, Tavernier J, Hill DE, Vidal M, Sebat J, Iakoucheva LM.
Spatio-temporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases.
Neuron. 2015 Feb 18;85(4):742-54. doi: 10.1016/j.neuron.2015.01.010. (Issue Highlights). [Goggle scholar] [PDF]
(* Co-first authors)
(Featured by Scientific American Mind, UCSD, SFARI, IFLScience, ScienceDaily, Medical Xpress, San Diego County News, ANI News, MedIndia, Sci Guru Science News, Neuroscience news, Business 2 community, etc)

Rolland T, Tasan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian S, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis A-R, Convery-Zupan D, Corominas R, Hardy M, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere J, Vega K, Walsh J, Cusick ME, Xia Y, Barabasi A-L, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M.
A proteome-scale map of the human interactome network.
Cell. 2014 Nov 20;159(5):1212-26. [Goggle scholar] [PDF]

Uversky VN, Vrushank Davé, Iakoucheva LM, Malaney P, Metallo SJ, Pathak RR, Joerger AC.
Pathological unfoldomics of uncontrolled chaos: intrinsically disordered proteins and human diseases.
Chem Rev. 2014 Jul 9;114(13):6844-79. doi: 10.1021/cr400713r. Epub 2014 May 15. [Goggle scholar] [PDF]

Corominas R*, Yang X*, Lin GN*, Kang S*, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM.
Protein interaction network of alternativelyspliced isoforms from brain links genetic risk factors for autism.
Nat. Commun. 2014 April 11;5:3650 doi: 10.1038/ncomms4650. [Goggle scholar] [PDF]
(* Equal contribution)
(Featured by UCSD, SFARI, Nature Commu, ScienceDaily, neurosciencenews, newswise)

Dembinski H, Wismer K, Balasubramaniam D, Gonzalez HA, Alverdi V, Iakoucheva LM, Komives EA.Dembinski H1, Wismer K, Balasubramaniam D, Gonzalez HA, Alverdi V, Iakoucheva LM, Komives EA.
Predicted disorder-to-order transition mutations in IκBα disrupt function.
Phys Chem Chem Phys. 2014 Apr 14;16(14):6480-5. doi: 10.1039/c3cp54427c. Epub 2014 Mar 6. [Goggle scholar] [PDF]

Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J.
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Cell. 2012 Dec 21;151(7):1431-42. [Goggle scholar] [PDF]

Vacic V, Markwick P, Oldfield CJ, Zhao X, Haynes C, Uversky V, Iakoucheva LM.
Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder.
PLoS Comput Biol. 2012;8(10):e1002709. doi: 10.1371/journal.pcbi.1002709. Epub 2012 Oct 4. [Goggle scholar] [PDF]

Vacic V, Iakoucheva LM.
Disease mutations in disordered regions--exception to the rule?
Mol. BioSyst. 2012 Jan;8(1):27-32. doi: 10.1039/c1mb05251a. Epub 2011 Nov 14. [Goggle scholar] [PDF]

Vacic V, … Corominas R, Iakoucheva LM…[30 authors], Sebat J.
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
Nature. 2011 Mar 24;471(7339):499-503. doi: 10.1038/nature09884. Epub 2011 Feb 23. [Goggle scholar] [PDF]

Mills R, … Iakoucheva LM…[57 authors], Korbel J.
Mapping copy number variation by population-scale genome sequencing
Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708. [Goggle scholar] [PDF]

Radivojac P, Vacic V, Haynes C, Cocklin RR, Mohan A, Heyen JW, Goebl MG, Iakoucheva LM.
Identification, analysis, and prediction of protein ubiquitination sites.
Proteins. 2010 Feb 1;78(2):365-80. doi: 10.1002/prot.22555. [Goggle scholar] [PDF]

Vacic V, Iakoucheva LM, Lonardi S, Radivojac P.
Graphlet kernels for prediction of functional residues in protein structures.
J Comput Biol. 2010 Jan;17(1):55-72. doi: 10.1089/cmb.2009.0029. [Goggle scholar] [PDF]

Li S, Iakoucheva LM, Mooney SD, Radivojac P.
Loss of post-translational modification sites in disease.
Pac Symp Biocomput. 2010:337-47. [Goggle scholar] [PDF]

McCarthy SE, … Iakoucheva LM…[71 authors], Sebat J.
Microduplications of 16p11.2 are associated with schizophrenia.
Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25. [Goggle scholar] [PDF]

Boxem M, … Iakoucheva LM… [36 authors], Vidal M.
A protein domain-based interactome network for C. elegans early embryogenesis.
Cell. Aug 8;134(3):534-45. doi: 10.1016/j.cell.2008.07.009. [Goggle scholar] [PDF]

Haynes C, Oldfield CJ, Ji F, Klitgord N, Cusick ME, Radivojac P, Uversky VN, Vidal M, Iakoucheva LM.
Intrinsic disorder is a common feature of hub proteins from four eukaryotic interactomes.
PLoS Comput Biol. 2006 Aug 4;2(8):e100. Epub 2006 Jun 23. [Goggle scholar] [PDF]

Haynes C, Iakoucheva LM.
Serine/arginine-rich splicing factors belong to a class of intrinsically disordered proteins.
Nucleic Acids Res. 2006 Jan 10;34(1):305-12. Print 2006. [Goggle scholar] [PDF]

Iakoucheva LM, Radivojac P, Brown CJ, O'Connor TR, Sikes JG, Obradovic Z, Dunker AK.
The importance of intrinsic disorder for protein phosphorylation.
Nucleic Acids Res. 2004 Feb 11;32(3):1037-49. Print 2004. [Goggle scholar] [PDF]

Iakoucheva LM, Brown CJ, Lawson JD, Obradović Z, Dunker AK.
Intrinsic disorder in cell-signaling and cancer-associated proteins.
J Mol Biol. 2002 Oct 25;323(3):573-84. [Goggle scholar] [PDF]

Dunker AK, Brown CJ, Lawson JD, Iakoucheva LM, Obradović Z.
Intrinsic disorder and protein function.
Biochemistry. 2002 May 28;41(21):6573-82. [Goggle scholar] [PDF]