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Department of Genetics faculty, postdocs, students and collaborators published fourteen papers during December 2-15, 2018. 

The Unreasonable Effectiveness of Convolutional Neural Networks in Population Genetic Inference.
Flagel L, Brandvain Y, Schrider DR.
Mol Biol Evol. 2018 Dec 4. doi: 10.1093/molbev/msy224. [Epub ahead of print]
PMID: 30517664

 

Interactome determination of a Long Noncoding RNA implicated in Embryonic Stem Cell Self-Renewal.
Smith KN, Starmer J, Magnuson T.
Sci Rep. 2018 Dec 4;8(1):17568. doi: 10.1038/s41598-018-34864-z.
PMID: 30514857

 

SWI/SNF remains localized to chromatin in the presence of SCHLAP1.
Raab JR, Smith KN, Spear CC, Manner CJ, Calabrese JM, Magnuson T.
Nat Genet. 2018 Dec 3. doi: 10.1038/s41588-018-0272-z. [Epub ahead of print]
PMID: 30510238

 

Comprehensive functional genomic resource and integrative model for the human brain.
Wang D, Liu S, Warrell J, Won H, Shi X, Navarro FCP, Clarke D, Gu M, Emani P, Yang YT, Xu M, Gandal MJ, Lou S, Zhang J, Park JJ, Yan C, Rhie SK, Manakongtreecheep K, Zhou H, Nathan A, Peters M, Mattei E, Fitzgerald D, Brunetti T, Moore J, Jiang Y, Girdhar K, Hoffman GE, Kalayci S, Gümüş ZH, Crawford GE; PsychENCODE Consortium, Roussos P, Akbarian S, Jaffe AE, White KP, Weng Z, Sestan N, Geschwind DH, Knowles JA, Gerstein MB.
Science. 2018 Dec 14;362(6420). pii: eaat8464. doi: 10.1126/science.aat8464.
PMID: 30545857

 

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.
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.
Science. 2018 Dec 14;362(6420). pii: eaat8127. doi: 10.1126/science.aat8127.
PMID: 30545856

 

EZH2 variants differentially regulate polycomb repressive complex 2 in histone methylation and cell differentiation.
Mu W, Starmer J, Yee D, Magnuson T.
Epigenetics Chromatin. 2018 Dec 6;11(1):71. doi: 10.1186/s13072-018-0242-9.
PMID: 30522506

 

Common-variant associations with fragile X syndrome.
Crowley JJ, Szatkiewicz J, Kähler AK, Giusti-Rodriguez P, Ancalade N, Booker JK, Carr JL, Crawford GE, Losh M, Stockmeier CA, Taylor AK, Piven J, Sullivan PF.
Mol Psychiatry. 2018 Dec 7. doi: 10.1038/s41380-018-0290-3. [Epub ahead of print]
PMID: 30531935

 

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
Genet Med. 2018 Dec 3. doi: 10.1038/s41436-018-0361-5. [Epub ahead of print]
PMID: 30504931

 

Correction to: Quantitative trait mapping in Diversity Outbred mice identifies two genomic regions associated with heart size.
Shorter JR, Huang W, Beak JY, Hua K, Gatti DM, de Villena FP, Pomp D, Jensen BC.
Mamm Genome. 2018 Dec 4. doi: 10.1007/s00335-018-9789-9. [Epub ahead of print]
PMID: 30515527

 

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ.
Genet Med. 2018 Dec 7. doi: 10.1038/s41436-018-0373-1. [Epub ahead of print]
PMID: 30523343

 

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.
Franceschini N, Giambartolomei C, de Vries PS, Finan C, Bis JC, Huntley RP, Lovering RC, Tajuddin SM, Winkler TW, Graff M, Kavousi M, Dale C, Smith AV, Hofer E, van Leeuwen EM, Nolte IM, Lu L, Scholz M, Sargurupremraj M, Pitkänen N, Franzén O, Joshi PK, Noordam R, Marioni RE, Hwang SJ, Musani SK, Schminke U, Palmas W, Isaacs A, Correa A, Zonderman AB, Hofman A, Teumer A, Cox AJ, Uitterlinden AG, Wong A, Smit AJ, Newman AB, Britton A, Ruusalepp A, Sennblad B, Hedblad B, Pasaniuc B, Penninx BW, Langefeld CD, Wassel CL, Tzourio C, Fava C, Baldassarre D, O’Leary DH, Teupser D, Kuh D, Tremoli E, Mannarino E, Grossi E, Boerwinkle E, Schadt EE, Ingelsson E, Veglia F, Rivadeneira F, Beutner F, Chauhan G, Heiss G, Snieder H, Campbell H, Völzke H, Markus HS, Deary IJ, Jukema JW, de Graaf J, Price J, Pott J, Hopewell JC, Liang J, Thiery J, Engmann J, Gertow K, Rice K, Taylor KD, Dhana K, Kiemeney LALM, Lind L, Raffield LM, Launer LJ, Holdt LM, Dörr M, Dichgans M, Traylor M, Sitzer M, Kumari M, Kivimaki M, Nalls MA, Melander O, Raitakari O, Franco OH, Rueda-Ochoa OL, Roussos P, Whincup PH, Amouyel P, Giral P, Anugu P, Wong Q, Malik R, Rauramaa R, Burkhardt R, Hardy R, Schmidt R, de Mutsert R, Morris RW, Strawbridge RJ, Wannamethee SG, Hägg S, Shah S, McLachlan S, Trompet S, Seshadri S, Kurl S, Heckbert SR, Ring S, Harris TB, Lehtimäki T, Galesloot TE, Shah T, de Faire U, Plagnol V, Rosamond WD, Post W, Zhu X, Zhang X, Guo X, Saba Y; MEGASTROKE Consortium, Dehghan A, Seldenrijk A, Morrison AC, Hamsten A, Psaty BM, van Duijn CM, Lawlor DA, Mook-Kanamori DO, Bowden DW, Schmidt H, Wilson JF, Wilson JG, Rotter JI, Wardlaw JM, Deanfield J, Halcox J, Lyytikäinen LP, Loeffler M, Evans MK, Debette S, Humphries SE, Völker U, Gudnason V, Hingorani AD, Björkegren JLM, Casas JP, O’Donnell CJ.
Nat Commun. 2018 Dec 3;9(1):5141. doi: 10.1038/s41467-018-07340-5.
PMID: 30510157

 

Adaptively weighted large-margin angle-based classifiers.
Fu S, Zhang S, Liu Y.
J Multivar Anal. 2018 Jul;166:282-299. doi: 10.1016/j.jmva.2018.03.004. Epub 2018 Mar 15.
PMID: 30546163

 

Genetic loss of proadrenomedullin N-terminal 20 peptide (PAMP) in mice is compatible with survival.
Matson BC, Li M, Trincot CE, Blakeney ES, Pierce SL, Caron KM.
Peptides. 2018 Dec 8. pii: S0196-9781(18)30237-7. doi: 10.1016/j.peptides.2018.11.005. [Epub ahead of print]
PMID: 30537525

 

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D.
Mol Genet Metab. 2018 Oct 24. pii: S1096-7192(18)30535-3. doi: 10.1016/j.ymgme.2018.10.006. [Epub ahead of print]
PMID: 30528227