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Publications 2017

Sequencing

Sequence variant analysis of RNA sequences in severe equine asthma.
Tessier L, Côté O, Bienzle D. PeerJ. 2018 Oct 11;6:e5759. doi: 10.7717/peerj.5759. eCollection 2018. PubMed PMID: 30324028; PubMed Central PMCID: PMC6186407.

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
Linhares ND, Arantes RR, Araujo SA, Pena SDJ. Clin Kidney J. 2018 Aug;11(4):462-467. doi: 10.1093/ckj/sfx130. Epub 2017 Nov 13. PubMed PMID: 30090628; PubMed Central PMCID: PMC6070023. (exome sequencing)

Familial STAG2 germline mutation defines a new human cohesinopathy.
Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ. NPJ Genom Med. 2017 Mar 20;2:7. doi: 10.1038/s41525-017-0009-4. eCollection 2017. PubMed PMID: 29263825; PubMed Central PMCID: PMC5677968. (exome sequencing)

The influence of microRNAs and poly(A) tail length on endogenous mRNA-protein complexes.
Rissland OS, Subtelny AO, Wang M, Lugowski A, Nicholson B, Laver JD, Sidhu SS, Smibert CA, Lipshitz HD, Bartel DP. Genome Biol. 2017 Oct 31;18(1):211. doi: 10.1186/s13059-017-1330-z. PubMed PMID: 29089021; PubMed Central PMCID: PMC5664449.

Linking micro- and macroevolutionary perspectives to evaluate the role of Quaternary sea-level oscillations in island diversification.
Papadopoulou A, Knowles LL. Evolution. 2017 Dec;71(12):2901-2917. doi: 10.1111/evo.13384. Epub 2017 Nov 16. PubMed PMID: 29076151.

A novel mutation in LIG4 in an infant presenting with severe combined immunodeficiency with thymic medullary dysplasia.
Liao W, Ngan B, Merico D, Dadi H, Roifman C. LymphoSign Journal, 2017, 4(1): 31-41, https://doi.org/10.14785/lymphosign-2017-0001 (exome sequencing)

DRUID: A pipeline for reproducible transcriptome-wide measurements of mRNA stability.
Lugowski A, Nicholson B, Rissland OS. bioRxiv 149195; doi: https://doi.org/10.1101/149195

Proanthocyanidin accumulation and transcriptional responses in the seed coat of cranberry beans (Phaseolus vulgaris L.) with different susceptibility to postharvest darkening.
Freixas Coutin JA, Munholland S, Silva A, Subedi S, Lukens L, Crosby WL, Peter Pauls K, Bozzo G. BMC Plant Biology 2017 17:89. https://doi.org/10.1186/s12870-017-1037-z

Successful optimization of CRISPR/Cas9-mediated defined point mutation knock-in using allele-specific PCR assays in zebrafish.
Prykhozhij SV, Fuller C, Steele SL, Veinotte CJ, Razaghi B, McMaster C, Shlien A, Malkin D, Berman JN. bioRxiv 194936; doi: https://doi.org/10.1101/194936

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium, Poulter MO, Hegele RA, Kramer JM. Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316. PubMed PMID: 28973161; PubMed Central PMCID: PMC5886076.

The other white-nose syndrome transcriptome: tolerant and susceptible hosts respond differently to the pathogen Pseudogymnoascus destructans.
Davy CM, Donaldson ME, Willis CKR, Saville BJ, McGuire LP, Mayberry H, Wilcox A, Wibbelt G, Misra V, Bollinger T, Kyle CJ. Ecol Evol. 2017 Aug 2;7(18):7161-7170. doi: 10.1002/ece3.3234. eCollection 2017 Sep. PubMed PMID: 28944007; PubMed Central PMCID: PMC5606880.

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251. PubMed PMID: 28911203; PubMed Central PMCID: PMC5886142. (SOLiD exome sequencing)

Impaired response of the bronchial epithelium to inflammation characterizes severe equine asthma.
Tessier L, Côté O, Clark ME, Viel L, Diaz-Méndez A, Anders S, Bienzle D. BMC Genomics. 2017 Sep 8;18(1):708. doi: 10.1186/s12864-017-4107-6. PubMed PMID: 28886691; PubMed Central PMCID: PMC5591550.

ME31B globally represses maternal mRNAs by two distinct mechanisms during the Drosophila maternal-to-zygotic transition.
Wang M, Ly M, Lugowski A, Laver JD, Lipshitz HD, Smibert CA, Rissland OS. Elife. 2017 Sep 6;6. pii: e27891. doi: 10.7554/eLife.27891. PubMed PMID: 28875934; PubMed Central PMCID: PMC5779226.

Population genomics reveals structure at the individual, host-tree scale and persistence of genotypic variants of the undomesticated yeast Saccharomyces paradoxus in a natural woodland.
Xia W, Nielly-Thibault L, Charron G, Landry CR, Kasimer D, Anderson JB, Kohn LM. Mol Ecol. 2017 Feb;26(4):995-1007. doi: 10.1111/mec.13954. Epub 2017 Jan 27. PubMed PMID: 27988980.

Induction of multiple miR-200/182 members in the brains of mice are associated with acute herpes simplex virus 1 encephalitis.
Majer A, Caligiuri KA, Gale KK, Niu Y, Phillipson CS, Booth TF, Booth SA. PLoS One. 2017 Jan 3;12(1):e0169081. doi: 10.1371/journal.pone.0169081. eCollection 2017. PubMed PMID: 28045967; PubMed Central PMCID: PMC5207681.

Minimum sample sizes for population genomics: an empirical study from an Amazonian plant species.
Nazareno AG, Bemmels JB, Dick CW, Lohmann LG. Mol Ecol Resour. 2017 Nov;17(6):1136-1147. doi: 10.1111/1755-0998.12654. Epub 2017 Feb 10. PubMed PMID: 28078808.

Impact of dairy manure pre-application treatment on manure composition, soil dynamics of antibiotic resistance genes, and abundance of antibiotic-resistance genes on vegetables at harvest.
Tien YC, Li B, Zhang T, Scott A, Murray R, Sabourin L, Marti R, Topp E. Sci Total Environ. 2017 Mar 1;581-582:32-39. doi: 10.1016/j.scitotenv.2016.12.138. Epub 2017 Jan 8. PubMed PMID: 28076772.

Targeted capture of complete coding regions across divergent species.
Schott RK, Panesar B, Card DC, Preston M, Castoe TA, Chang BS. Genome Biol Evol. 2017 Feb 1;9(2):398-414. doi: 10.1093/gbe/evx005. PubMed PMID: 28137744; PubMed Central PMCID: PMC5381602.

Debunking Occam's razor: diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM. Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13. PubMed PMID: 28170084.

Transcriptomic analysis of THP-1 macrophages exposed to lipoprotein hydrolysis products generated by lipoprotein lipase.
Thyagarajan N, Marshall JD, Pickett AT, Schumacher C, Yang Y, Christian SL, Brown RJ. Lipids. 2017 Mar;52(3):189-205. doi: 10.1007/s11745-017-4238-1. Epub 2017 Feb 15. PubMed PMID: 28205069.

Impact of pre-application treatment on municipal sludge composition, soil dynamics of antibiotic resistance genes, and abundance of antibiotic-resistance genes on vegetables at harvest.
Lau CH, Li B, Zhang T, Tien YC, Scott A, Murray R, Sabourin L, Lapen DR, Duenk P, Topp E. Sci Total Environ. 2017 Jun 1;587-588:214-222. doi: 10.1016/j.scitotenv.2017.02.123. Epub 2017 Feb 24. PubMed PMID: 28242221.

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
Albanyan S, Al Teneiji A, Monfared N, Mercimek-Mahmutoglu S. Am J Med Genet A. 2017 Jun;173(6):1640-1643. doi: 10.1002/ajmg.a.38127. Epub 2017 Mar 23. PubMed PMID: 28332767. (exome sequencing/Genome Clinic)

Insights into electrosensory organ development, physiology and evolution from a lateral line-enriched transcriptome.
Modrell MS, Lyne M, Carr AR, Zakon HH, Buckley D, Campbell AS, Davis MC, Micklem G, Baker CV. Elife. 2017 Mar 27;6. pii: e24197. doi: 10.7554/eLife.24197. PubMed PMID: 28346141; PubMed Central PMCID: PMC5429088.

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. PubMed PMID: 28368018; PubMed Central PMCID: PMC5382316. (Proton exome sequencing)

Spatial heterogeneity in medulloblastoma.
Morrissy AS, Cavalli FMG, Remke M, Ramaswamy V, Shih DJH, Holgado BL, Farooq H, Donovan LK, Garzia L, Agnihotri S, Kiehna EN, Mercier E, Mayoh C, Papillon-Cavanagh S, Nikbakht H, Gayden T, Torchia J, Picard D, Merino DM, Vladoiu M, Luu B, Wu X, Daniels C, Horswell S, Thompson YY, Hovestadt V, Northcott PA, Jones DTW, Peacock J, Wang X, Mack SC, Reimand J, Albrecht S, Fontebasso AM, Thiessen N, Li Y, Schein JE, Lee D, Carlsen R, Mayo M, Tse K, Tam A, Dhalla N, Ally A, Chuah E, Cheng Y, Plettner P, Li HI, Corbett RD, Wong T, Long W, Loukides J, Buczkowicz P, Hawkins CE, Tabori U, Rood BR, Myseros JS, Packer RJ, Korshunov A, Lichter P, Kool M, Pfister SM, Schüller U, Dirks P, Huang A, Bouffet E, Rutka JT, Bader GD, Swanton C, Ma Y, Moore RA, Mungall AJ, Majewski J, Jones SJM, Das S, Malkin D, Jabado N, Marra MA, Taylor MD. Nat Genet. 2017 May;49(5):780-788. doi: 10.1038/ng.3838. Epub 2017 Apr 10. PubMed PMID: 28394352; PubMed Central PMCID: PMC5553617.

Wide but not impermeable: testing the riverine barrier hypothesis for an Amazonian plant species.
Nazareno AG, Dick CW, Lohmann LG. Mol Ecol. 2017 Jul;26(14):3636-3648. doi: 10.1111/mec.14142. Epub 2017 May 10. PubMed PMID: 28393442.

Parallel adaptive evolution of geographically distant herring populations on both sides of the North Atlantic Ocean.
Lamichhaney S, Fuentes-Pardo AP, Rafati N, Ryman N, McCracken GR, Bourne C, Singh R, Ruzzante DE, Andersson L. Proc Natl Acad Sci U S A. 2017 Apr 25;114(17):E3452-E3461. doi: 10.1073/pnas.1617728114. Epub 2017 Apr 7. PubMed PMID: 28389569; PubMed Central PMCID: PMC5410801.

G9a controls placental vascular maturation by activating the Notch Pathway.<br /> Chi L, Ahmed A, Roy AR, Vuong S, Cahill LS, Caporiccio L, Sled JG, Caniggia I, Wilson MD, Delgado-Olguin P. Development. 2017 Jun 1;144(11):1976-1987. doi: 10.1242/dev.148916. Epub 2017 Apr 28. PubMed PMID: 28455378.

Post carbon removal nitrifying MBBR operation at high loading and exposure to starvation conditions.
Young B, Delatolla R, Kennedy K, LaFlamme E, Stintzi A. Bioresour Technol. 2017 Sep;239:318-325. doi: 10.1016/j.biortech.2017.05.024. Epub 2017 May 5. PubMed PMID: 28531857.

MsmiR156 affects global gene expression and promotes root regenerative capacity and nitrogen fixation activity in alfalfa.
Aung B, Gao R, Gruber MY, Yuan ZC, Sumarah M, Hannoufa A. Transgenic Res. 2017 Aug;26(4):541-557. doi: 10.1007/s11248-017-0024-3. Epub 2017 May 25. PubMed PMID: 28547343.

QTL mapping reveals genetic determinants of fungal disease resistance in the wild lentil species Lens ervoides.
Bhadauria V, Ramsay L, Bett KE, Banniza S.Sci Rep. 2017 Jun 12;7(1):3231. doi: 10.1038/s41598-017-03463-9. PubMed PMID: 28607439; PubMed Central PMCID: PMC5468239.

Dichotomous expression of TNF superfamily ligands on antigen-presenting cells controls post-priming anti-viral CD4(+) T cell immunity.
Chang YH, Wang KC, Chu KL, Clouthier DL, Tran AT, Torres Perez MS, Zhou AC, Abdul-Sater AA, Watts TH. Immunity. 2017 Nov 21;47(5):943-958.e9. doi: 10.1016/j.immuni.2017.10.014. Epub 2017 Nov 14. PubMed PMID: 29150240. (RNA-seq)

Comprehensive analysis of hypermutation in human cancer.
Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A. Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19. PubMed PMID: 29056344; PubMed Central PMCID: PMC5849393. (WGS)

Molecular and phylogenetic identification of unique isolates of hammerhead viroid-like RNA from 'Pacific Gala' apple (Malus domestica) in Canada.
Amber Messmer, Daniel Sanderson, Gordon Braun, Pedro Serra, Ricardo Flores, Delano James (2017) Canadian Journal of Plant Pathology, 39:3, 342-353, DOI: 10.1080/07060661.2017.1354334 (Illumina sequencing)

A persistently infecting coronavirus in hibernating Myotis lucifugus, the North American little brown bat.
Subudhi S, Rapin N, Bollinger TK, Hill JE, Donaldson ME, Davy CM, Warnecke L, Turner JM, Kyle CJ, Willis CKR, Misra V. J Gen Virol. 2017 Sep;98(9):2297-2309. doi: 10.1099/jgv.0.000898. Epub 2017 Aug 25. PubMed PMID: 28840816. (RNA-seq)

Purifying and positive selection influence patterns of gene loss and gene expression in the evolution of a plant sex chromosome system.
Crowson D, Barrett SCH, Wright SI. Mol Biol Evol. 2017 May 1;34(5):1140-1154. doi: 10.1093/molbev/msx064. PubMed PMID: 28158772. (Illumina sequencing)


Genetic Analysis

The application of functional imaging in the diagnosis of tumors.
Ma X, Wei X, Li S. Contrast Media Mol Imaging. 2017 Dec 12;2017:3608912. doi: 10.1155/2017/3608912. eCollection 2017. PubMed PMID: 29379408; PubMed Central PMCID: PMC5742886. (STR genotyping)

Correlation of somatostatin receptor-2 expression with gallium-68-DOTA-TATE uptake in neuroblastoma xenograft models.
Zhang L, Vines DC, Scollard DA, McKee T, Komal T, Ganguly M, Do T, Wu B, Alexander N, Vali R, Shammas A, Besanger T, Baruchel S. Contrast Media Mol Imaging. 2017 Aug 8;2017:9481276. doi: 10.1155/2017/9481276. eCollection 2017. PubMed PMID: 29097943; PubMed Central PMCID: PMC5612706. (STR genotyping)

Xanthatin triggers Chk1-mediated DNA damage response and destabilizes Cdc25C via lysosomal degradation in lung cancer cells.
Tao L, Cao Y, Wei Z, Jia Q, Yu S, Zhong J, Wang A, Woodgett JR, Lu Y. Toxicol Appl Pharmacol. 2017 Dec 15;337:85-94. doi: 10.1016/j.taap.2017.10.015. Epub 2017 Oct 23. PubMed PMID: 29074359. (STR genotyping)

Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers.
Baldassarre T, Truesdell P, Craig AW.Breast Cancer Res. 2017 Oct 3;19(1):110. doi: 10.1186/s13058-017-0900-z. PubMed PMID: 28974266; PubMed Central PMCID: PMC5627411. (STR genotyping)

CYRI1-mediated inhibition of RAC1 signalling restricts Salmonella typhimurium infection.
Yuki KE, Marei H, Fiskin E, Eva MM, Gopal AA, Schwartzentruber JA, Majewski J, Cellier M, Mandl JN, Vidal SM, Malo D, Dikic I. bioRxiv 238733; doi: https://doi.org/10.1101/238733 (mouse linkage panel)

Multiple mating by females in the Chesapeake Bay blue crab Callinectes sapidus population.
Wells S, McConaugha J, Horth L (2017) Mar Ecol Prog Ser 564:67-75. https://doi.org/10.3354/meps12028 (genotyping)

Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal development.
Hou H, Uusküla-Reimand L, Makarem M, Corre C, Saleh S, Metcalf A, Goldenberg A, Palmert MR, Wilson MD. Hum Mol Genet. 2017 Sep 15;26(18):3585-3599. doi: 10.1093/hmg/ddx246. PubMed PMID: 28911201; PubMed Central PMCID: PMC5886205. (Tara Paton / Fluidigm)

Ikaros and its interacting partner CtBP target the metalloprotease ADAMTS10 to modulate pituitary cell function.
Shen Z, Asa SL, Ezzat S. Mol Cell Endocrinol. 2017 Jan 5;439:126-132. doi: 10.1016/j.mce.2016.10.032. Epub 2016 Nov 1. PubMed PMID: 27815209. (Quyen Tran)

Functional characterization of CFI-402257, a potent and selective Mps1/TTK kinase inhibitor, for the treatment of cancer.
Mason JM, Wei X, Fletcher GC, Kiarash R, Brokx R, Hodgson R, Beletskaya I, Bray MR, Mak TW. Proc Natl Acad Sci U S A. 2017 Mar 21;114(12):3127-3132. doi: 10.1073/pnas.1700234114. Epub 2017 Mar 7. PubMed PMID: 28270606; PubMed Central PMCID: PMC5373378. (STR genotyping)

Genes outside the major histocompatibility complex locus are linked to the development of thyroid autoantibodies and thyroiditis in NOD.H2h4 mice.
McLachlan SM, Lesage S, Collin R, Banuelos B, Aliesky HA, Rapoport B. Endocrinology. 2017 Apr 1;158(4):702-713. doi: 10.1210/en.2016-1875. PubMed PMID: 28323998; PubMed Central PMCID: PMC5460802. (mouse linkage panel)

Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH. Am J Med Genet A. 2017 Apr;173(4):978-984. doi: 10.1002/ajmg.a.38105. PubMed PMID: 28328134. (Taqman)

CDK12 regulates alternative last exon mRNA splicing and promotes breast cancer cell invasion.
Tien JF, Mazloomian A, Cheng SG, Hughes CS, Chow CCT, Canapi LT, Oloumi A, Trigo-Gonzalez G, Bashashati A, Xu J, Chang VC, Shah SP, Aparicio S, Morin GB. Nucleic Acids Res. 2017 Jun 20;45(11):6698-6716. doi: 10.1093/nar/gkx187. PubMed PMID: 28334900; PubMed Central PMCID: PMC5499812. (STR genotyping)

Recurrent triploid digynic conceptions and mature ovarian teratomas: are they different manifestations of the same genetic defect?
Khawajkie Y, Buckett W, Nguyen NMP, Mechtouf N, Ao A, Arseneau J, Slim R. Genes Chromosomes Cancer. 2017 Dec;56(12):832-840. doi: 10.1002/gcc.22484. Epub 2017 Sep 1. PubMed PMID: 28730668. (PCR genotyping)

An unbiased linkage approach reveals that the p53 pathway Is coupled to NK cell maturation.
Collin R, St-Pierre C, Guilbault L, Mullins-Dansereau V, Policheni A, Guimont-Desrochers F, Pelletier AN, Gray DH, Drobetsky E, Perreault C, Hillhouse EE, Lesage S. J Immunol. 2017 Aug 15;199(4):1490-1504. doi: 10.4049/jimmunol.1600789. Epub 2017 Jul 14. PubMed PMID: 28710252. (mouse linkage panel)

A study protocol for an observational cohort investigating COGnitive outcomes and WELLness in survivors of critical illness: the COGWELL study.
Wilcox ME, Lim AS, McAndrews MP, Wennberg RA, Pinto RL, Black SE, Walczak KD, Friedrich JO, Taglione MS, Rubenfeld GD. BMJ Open. 2017 Jul 13;7(7):e015600. doi: 10.1136/bmjopen-2016-015600. PubMed PMID: 28710215; PubMed Central PMCID: PMC5734403. (genotyping)

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD. Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18. PubMed PMID: 28524158; PubMed Central PMCID: PMC5518865. (Tara Paton, Guillermo Casallo)

The role of ecology, neutral processes and antagonistic coevolution in an apparent sexual arms race.
Perry JC, Garroway CJ, Rowe L. Ecol Lett. 2017 Sep;20(9):1107-1117. doi: 10.1111/ele.12806. Epub 2017 Jul 6. PubMed PMID: 28683517. (STR genotyping)

Oral Metronomic topotecan sensitizes crizotinib antitumor activity in ALK(F1174L) drug-resistant neuroblastoma preclinical models.
Zhang L, Wu B, Baruchel S. Transl Oncol. 2017 Aug;10(4):604-611. doi: 10.1016/j.tranon.2017.04.008. Epub 2017 Jun 27. PubMed PMID: 28666189; PubMed Central PMCID: PMC5491461. (STR genotyping)

Genome-wide CRISPR screens reveal a Wnt-FZD5 signaling circuit as a druggable vulnerability of RNF43-mutant pancreatic tumors.
Steinhart Z, Pavlovic Z, Chandrashekhar M, Hart T, Wang X, Zhang X, Robitaille M, Brown KR, Jaksani S, Overmeer R, Boj SF, Adams J, Pan J, Clevers H, Sidhu S, Moffat J, Angers S. Nat Med. 2017 Jan;23(1):60-68. doi: 10.1038/nm.4219. Epub 2016 Nov 21. PubMed PMID: 27869803. (STR genotyping)

An orthologous non-MHC locus in rats and mice is linked to CD4(+) and CD8(+) T-cell proportion.
Franckaert D, Collin R, Dooley J, Wallis RH, Poussier P, Liston A, Hillhouse EE, Lesage S. Genes Immun. 2017 Sep;18(3):118-126. doi: 10.1038/gene.2017.9. Epub 2017 May 25. PubMed PMID: 28539651. (mouse low-density linkage panel)

Molecular-based classification algorithm for endometrial carcinoma categorizes ovarian endometrioid carcinoma into prognostically significant groups.
Parra-Herran C, Lerner-Ellis J, Xu B, Khalouei S, Bassiouny D, Cesari M, Ismiil N, Nofech-Mozes S. Mod Pathol. 2017 Dec;30(12):1748-1759. doi: 10.1038/modpathol.2017.81. Epub 2017 Aug 4. PubMed PMID: 28776572 (Tara Paton, Guillermo Casallo)

Ssm1b expression and function in germ cells of adult mice and in early embryos.
Ratnam S, Bozek G, Martin T, Gallagher SJ, Payne CJ, Storb U. Mol Reprod Dev. 2017 Jul;84(7):596-613. doi: 10.1002/mrd.22826. Epub 2017 Jun 5. PubMed PMID: 28464323. (Tara Payton [sic])


Cytogenomics & Genome Resources

Analysis of CTCL cell lines reveals important differences between mycosis fungoides/Sézary syndrome vs. HTLV-1+ leukemic cell lines.
Netchiporouk E, Gantchev J, Tsang M, Thibault P, Watters AK, Hughes JM, Ghazawi FM, Woetmann A, Ødum N, Sasseville D, Litvinov IV. Oncotarget. 2017 Oct 7;8(56):95981-95998. doi: 10.18632/oncotarget.21619. eCollection 2017 Nov 10. PubMed PMID: 29221181; PubMed Central PMCID: PMC5707075. (karyotyping and SKY)

Nuclear repositioning of the non-translocated HLXB9 allele in the leukaemia cell line GDM-1 harbouring a t(6;7)(q23;q36).
Federico C, Leotta CG, Bruno F, Longo AM, Owoka T, Tosi S, Saccone S. Cytogenet Genome Res. 2017;153(1):10-17. doi: 10.1159/000480745. Epub 2017 Sep 29. PubMed PMID: 28965118. (PAC clones)

PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4.
Salsman J, Stathakis A, Parker E, Chung D, Anthes LE, Koskowich KL, Lahsaee S, Gaston D, Kukurba KR, Smith KS, Chute IC, éger D, Frost LD, Montgomery SB, Lewis SM, Eskiw C, Dellaire G. Sci Rep. 2017 Mar 23;7:45038. doi: 10.1038/srep45038. PubMed PMID: 28332630; PubMed Central PMCID: PMC5362932. (FISH probes)

Myogenic differentiation triggers PML nuclear body loss and DAXX relocalization to chromocentres.
Salsman J, Rapkin LM, Margam NN, Duncan R, Bazett-Jones DP, Dellaire G. Cell Death Dis. 2017 Mar 30;8(3):e2724. doi: 10.1038/cddis.2017.151. PubMed PMID: 28358373; PubMed Central PMCID: PMC5386546. (MGC cDNA clone)

Migrating interneurons secrete fractalkine to promote oligodendrocyte formation in the developing mammalian brain.
Voronova A, Yuzwa SA, Wang BS, Zahr S, Syal C, Wang J, Kaplan DR, Miller FD. Neuron. 2017 May 3;94(3):500-516.e9. doi: 10.1016/j.neuron.2017.04.018. PubMed PMID: 28472653. (mouse IMAGE clone)

Therapeutic and prognostic implications of BRAF V600E in pediatric low-Grade gliomas.
Lassaletta A, Zapotocky M, Mistry M, Ramaswamy V, Honnorat M, Krishnatry R, Guerreiro Stucklin A, Zhukova N, Arnoldo A, Ryall S, Ling C, McKeown T, Loukides J, Cruz O, de Torres C, Ho CY, Packer RJ, Tatevossian R, Qaddoumi I, Harreld JH, Dalton JD, Mulcahy-Levy J, Foreman N, Karajannis MA, Wang S, Snuderl M, Nageswara Rao A, Giannini C, Kieran M, Ligon KL, Garre ML, Nozza P, Mascelli S, Raso A, Mueller S, Nicolaides T, Silva K, Perbet R, Vasiljevic A, Faure Conter C, Frappaz D, Leary S, Crane C, Chan A, Ng HK, Shi ZF, Mao Y, Finch E, Eisenstat D, Wilson B, Carret AS, Hauser P, Sumerauer D, Krskova L, Larouche V, Fleming A, Zelcer S, Jabado N, Rutka JT, Dirks P, Taylor MD, Chen S, Bartels U, Huang A, Ellison DW, Bouffet E, Hawkins C, Tabori U. J Clin Oncol. 2017 Sep 1;35(25):2934-2941. doi: 10.1200/JCO.2016.71.8726. Epub 2017 Jul 20. PubMed PMID: 28727518; PubMed Central PMCID: PMC5791837. (FISH probes)

Multiplex detection of pediatric low-grade glioma signature fusion transcripts and duplications using the NanoString nCounter System.
Ryall S, Arnoldo A, Krishnatry R, Mistry M, Khor K, Sheth J, Ling C, Leung S, Zapotocky M, Guerreiro Stucklin A, Lassaletta A, Shago M, Tabori U, Hawkins CE. J Neuropathol Exp Neurol. 2017 Jul 1;76(7):562-570. doi: 10.1093/jnen/nlx042. PubMed PMID: 28863456. (FISH probes)

Prevalence of pathogenic copy number variation in adults With pediatric-onset epilepsy and intellectual disability.
Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM. doi: 10.1001/jamaneurol.2017.1775. PubMed PMID: 28846756; PubMed Central PMCID: PMC5710585. JAMA Neurol. 2017 Nov 1;74(11):1301-1311. (FISH probes)

Two De Novo mutations in an autistic child who Had previously undergone transplantation for dilated cardiomyopathy: the importance of keeping an open mind.
Sajid U, Argiropoulos B, Wei XC, Parboosingh JS, Lamont RE, Khan A, Greenway SC. Can J Cardiol. 2017 Feb;33(2):292.e5-292.e7. doi: 10.1016/j.cjca.2016.08.019. Epub 2016 Sep 26. PubMed PMID: 27965028. (FISH probes)


Microarray

Profiling of the transcriptional response to all-trans retinoic acid in breast cancer cells reveals RARE-independent mechanisms of gene expression.
Coyle KM, Maxwell S, Thomas ML, Marcato P. Sci Rep. 2017 Nov 30;7(1):16684. doi: 10.1038/s41598-017-16687-6. PubMed PMID: 29192143; PubMed Central PMCID: PMC5709375.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
David Duffy, Gu Zhu, Xin Li, Marianna Sanna, Mark Iles, Leonie C. Jacobs, David M. Evans, Seyhan Yazar, Jonathan Beesley, Matthew Law, Peter Kraft, Alessia Visconti, John C. Taylor, Fan Liu, Margaret J. Wright, Anjali K. Henders, Lisa Bowdler, Dan Glass, Arfan M. Ikram, Andre G. Uitterlinden, Pamela A. Madden, Andrew C. Heath, Elliot C. Nelson, Adele C. Green, Stephen Chanock, Jennifer H. Barrett, Matthew A. Brown, Nicholas K. Hayward, Stuart MacGregor, Richard A. Sturm, Alex W. Hewitt, Melanoma GWAS Consortium, Manfred Kayser, David J. Hunter, Julia A. Newton Bishop, Timothy D. Spector, Grant W. Montgomery, David A. Mackey, George Davey Smith, Tamar E. Nijsten, D. Timothy Bishop, Veronique Bataille, Mario Falchi, Jiali Han, Nicholas G. Martin. bioRxiv 173112; doi: https://doi.org/10.1101/173112 (microarray genotyping)

Cardiac-specific ablation of the E3 ubiquitin ligase Mdm2 leads to oxidative stress, broad mitochondrial deficiency and early death.
Hauck L, Stanley-Hasnain S, Fung A, Grothe D, Rao V, Mak TW, Billia F. (2017) PLoS ONE 12(12): e0189861. https://doi.org/10.1371/journal.pone.0189861

Rahu is a mutant allele of Dnmt3c, encoding a DNA methyltransferase homolog required for meiosis and transposon repression in the mouse male germline.
Devanshi Jain, Cem Meydan, Julian Lange, Corentin Claeys Bouuaert, Nathalie Lailler, Christopher E. Mason, Kathryn V. Anderson, Scott Keeney. PLOS Published: August 30, 2017 https://doi.org/10.1371/journal.pgen.1006964

Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease.
Cruz NM, Song X, Czerniecki SM, Gulieva RE, Churchill AJ, Kim YK, Winston K, Tran LM, Diaz MA, Fu H, Finn LS, Pei Y, Himmelfarb J, Freedman BS. Nat Mater. 2017 Nov;16(11):1112-1119. doi: 10.1038/nmat4994. Epub 2017 Oct 2. PubMed PMID: 28967916; PubMed Central PMCID: PMC5936694.

Long non-coding RNA urothelial carcinoma associated 1 (UCA1) mediates radiation response in prostate cancer.
Fotouhi Ghiam A, Taeb S, Huang X, Huang V, Ray J, Scarcello S, Hoey C, Jahangiri S, Fokas E, Loblaw A, Bristow RG, Vesprini D, Boutros P, Liu SK. Oncotarget. 2017 Jan 17;8(3):4668-4689. doi: 10.18632/oncotarget.13576. PubMed PMID: 27902466; PubMed Central PMCID: PMC5354863.

Enumerateblood - an R package to estimate the cellular composition of whole blood from Affymetrix Gene ST gene expression profiles.
Shannon CP, Balshaw R, Chen V, Hollander Z, Toma M, McManus BM, FitzGerald JM, Sin DD, Ng RT, Tebbutt SJ. BMC Genomics. 2017 Jan 6;18(1):43. doi: 10.1186/s12864-016-3460-1. PubMed PMID: 28061752; PubMed Central PMCID: PMC5219701. (methylation arrays)

rahu is a mutant allele of Dnmt3c, encoding a DNA methyltransferase homolog required for meiosis and transposon repression in the mouse male germline.
Jain D, Meydan C, Lange J, Claeys Bouuaert C, Lailler N, Mason CE, Anderson KV, Keeney S. PLoS Genet. 2017 Aug 30;13(8):e1006964. doi: 10.1371/journal.pgen.1006964. eCollection 2017 Aug. PubMed PMID: 28854222; PubMed Central PMCID: PMC5607212.

Genome-wide DNA methylation analysis of Chinese patients with systemic lupus erythematosus identified hypomethylation in genes telated to the type I interferon pathway.
Yeung KS, Chung BH, Choufani S, Mok MY, Wong WL, Mak CC, Yang W, Lee PP, Wong WH, Chen YA, Grafodatskaya D, Wong RW, Lau CS, Chan DT, Weksberg R, Lau YL. PLoS One. 2017 Jan 13;12(1):e0169553. doi: 10.1371/journal.pone.0169553. eCollection 2017. PubMed PMID: 28085900; PubMed Central PMCID: PMC5234836. (methylation arrays)

The E3 ligase Mule protects the heart against oxidative stress and mitochondrial dysfunction through Myc-dependent inactivation of Pgc-1a and Pink1.
Dadson K, Hauck L, Hao Z, Grothe D, Rao V, Mak TW, Billia F. Sci Rep. 2017 Feb 2;7:41490. doi: 10.1038/srep41490. PubMed PMID: 28148912; PubMed Central PMCID: PMC5288653.

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. PubMed PMID: 28264986; PubMed Central PMCID: PMC5502313. (microarray genotyping)

Comparative transcriptome analysis of isogenic cell line models and primary cancers links capicua (CIC) loss to activation of the MAPK signalling cascade.
LeBlanc VG, Firme M, Song J, Chan SY, Lee MH, Yip S, Chittaranjan S, Marra MA. J Pathol. 2017 Jun;242(2):206-220. doi: 10.1002/path.4894. Epub 2017 Apr 26. PubMed PMID: 28295365; PubMed Central PMCID: PMC5485162.

Acute effects of focused ultrasound-induced increases in blood-brain barrier permeability on rat microvascular transcriptome.
McMahon D, Bendayan R, Hynynen K. Sci Rep. 2017 Apr 4;7:45657. doi: 10.1038/srep45657. PubMed PMID: 28374753; PubMed Central PMCID: PMC5379491.

Targeting of CCBE1 by miR-330-3p in human breast cancer promotes metastasis.
Mesci A, Huang X, Taeb S, Jahangiri S, Kim Y, Fokas E, Bruce J, Leong HS, Liu SK. TBr J Cancer. 2017 May 9;116(10):1350-1357. doi: 10.1038/bjc.2017.105. Epub 2017 Apr 18. PubMed PMID: 28419078; PubMed Central PMCID: PMC5482727.

Genome-wide association shows that pigmentation genes play a role in skin aging.
Law MH, Medland SE, Zhu G, Yazar S, Viñuela A, Wallace L, Shekar SN, Duffy DL, Bataille V, Glass D, Spector TD, Wood D; MuTHER Consortium, Gordon SD, Barbour JM, Henders AK, Hewitt AW, Montgomery GW, Sturm RA, Mackey DA, Green AC, Martin NG, MacGregor S. J Invest Dermatol. 2017 Sep;137(9):1887-1894. doi: 10.1016/j.jid.2017.04.026. Epub 2017 May 11. Review. PubMed PMID: 28502801. (microarray genotyping)

Pdxdc1 modulates prepulse inhibition of acoustic startle in the mouse.
Feldcamp LA, Boutros PC, Raymond R, Fletcher PJ, Nobrega JN, Wong AHC. Transl Psychiatry. 2017 May 9;7(5):e1125. doi: 10.1038/tp.2017.85. PubMed PMID: 28485732; PubMed Central PMCID: PMC5534953.

A prostate cancer "nimbosus": genomic instability and SChLAP1 dysregulation underpin aggression of intraductal and cribriform subpathologies.
Chua MLK, Lo W, Pintilie M, Murgic J, Lalonde E, Bhandari V, Mahamud O, Gopalan A, Kweldam CF, van Leenders GJLH, Verhoef EI, Hoogland AM, Livingstone J, Berlin A, Dal Pra A, Meng A, Zhang J, Orain M, Picard V, Hovington H, Bergeron A, Lacombe L, Fradet Y, Têtu B, Reuter VE, Fleshner N, Fraser M, Boutros PC, van der Kwast TH, Bristow RG. Eur Urol. 2017 Nov;72(5):665-674. doi: 10.1016/j.eururo.2017.04.034. Epub 2017 May 13. PubMed PMID: 28511883.

A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain.
Mittal K, Gonçalves VF, Harripaul R, Cuperfain AB, Rollins B, Tiwari AK, Zai CC, Maciukiewicz M, Müller DJ, Vawter MP, Kennedy JL. Schizophr Res. 2017 Sep;187:67-73. doi: 10.1016/j.schres.2017.06.046. Epub 2017 Jul 8. PubMed PMID: 28693754; PubMed Central PMCID: PMC5660917.

Intertumoral heterogeneity within medulloblastoma subgroups.
Cavalli FMG, Remke M, Rampasek L, Peacock J, Shih DJH, Luu B, Garzia L, Torchia J, Nor C, Morrissy AS, Agnihotri S, Thompson YY, Kuzan-Fischer CM, Farooq H, Isaev K, Daniels C, Cho BK, Kim SK, Wang KC, Lee JY, Grajkowska WA, Perek-Polnik M, Vasiljevic A, Faure-Conter C, Jouvet A, Giannini C, Nageswara Rao AA, Li KKW, Ng HK, Eberhart CG, Pollack IF, Hamilton RL, Gillespie GY, Olson JM, Leary S, Weiss WA, Lach B, Chambless LB, Thompson RC, Cooper MK, Vibhakar R, Hauser P, van Veelen MC, Kros JM, French PJ, Ra YS, Kumabe T, López-Aguilar E, Zitterbart K, Sterba J, Finocchiaro G, Massimino M, Van Meir EG, Osuka S, Shofuda T, Klekner A, Zollo M, Leonard JR, Rubin JB, Jabado N, Albrecht S, Mora J, Van Meter TE, Jung S, Moore AS, Hallahan AR, Chan JA, Tirapelli DPC, Carlotti CG, Fouladi M, Pimentel J, Faria CC, Saad AG, Massimi L, Liau LM, Wheeler H, Nakamura H, Elbabaa SK, Perezpeña-Diazconti M, Chico Ponce de León F, Robinson S, Zapotocky M, Lassaletta A, Huang A, Hawkins CE, Tabori U, Bouffet E, Bartels U, Dirks PB, Rutka JT, Bader GD, Reimand J, Goldenberg A, Ramaswamy V, Taylor MD. Cancer Cell. 2017 Jun 12;31(6):737-754.e6. doi: 10.1016/j.ccell.2017.05.005. PubMed PMID: 28609654; PubMed Central PMCID: PMC6163053. (microarray gene expression)

Cohort profile: the All Our Babies pregnancy cohort (AOB).
Tough SC, McDonald SW, Collisson BA, Graham SA, Kehler H, Kingston D, Benzies K.
Int J Epidemiol. 2017 Oct 1;46(5):1389-1390k. doi: 10.1093/ije/dyw363. PubMed PMID: 28180262. (microarray gene expression)


Sanger Sequencing

Microbiomes of the Arctic carnivorous sponges Chondrocladia grandis and Cladorhiza oxeata suggest a specific, but differential involvement of bacterial associates.
Joost TP, Verhoeven SC. Dufour Arctic Science, 2018, 4(2): 186-204, https://doi.org/10.1139/as-2017-0015

DNA barcoding reveals the diversity of sharks in Guyana coastal markets.
Kolmann MA, Elbassiouny AA, Liverpool EA, Lovejoy NR. ichthyol. vol.15 no.4 Maringá 2017 Epub Dec 18, 2017 http://dx.doi.org/10.1590/1982-0224-20170097

Physiological and phylogenetic variability of Mexican Metarhizium strains.
Brunner-Mendoza C, Moonjely S, Reyes-Montes MR, Toriello C, Bidochka M. BioControl (2017) 62: 779. https://doi.org/10.1007/s10526-017-9839-3

The effects of familiarity and reproductive status on olfactory discrimination by female Cape ground squirrels (Xerus inauris).
Shave JR, Waterman JM. Behav Ecol Sociobiol (2017) 71: 184. https://doi.org/10.1007/s00265-017-2410-5

Congregations of the leaf-shredding insect Lepidostoma togatum mediate exceptionally rapid mass loss from leaf litter in Nova Scotia rivers.
Andrushchenko, I.V., Taylor, B.R., Toxopeus, J., Wilson, E. Hydrobiologia (2017) 788: 245. https://doi.org/10.1007/s10750-016-3001-6

The hercules beetles (subgenus Dynastes, genus Dynastes, dynastidae): a revisionary study based on the integrationof molecular, morphological, ecological, and geographic analyses.
Huang, J. P. 2017. Misc. Publ. Mus. Zool., Univ. Michigan, No. 206, pp. 1-32.

Centros de origen, domesticación y diversidad genética de la ciruela mexicana, Spondias purpurea (Anacardiaceae).
Norka María Fortuny-Fernández, Miriam Monserrat Ferrer, María del Rocío Ruenes-Morales. Act. Bot. Mex no.121 Pátzcuaro oct. 2017. http://dx.doi.org/10.21829/abm121.2017.1289

Mitochondrial mutations drive prostate cancer aggression.
Hopkins JF, Sabelnykova VY, Weischenfeldt J, Simon R, Aguiar JA, Alkallas R, Heisler LE, Zhang J, Watson JD, Chua MLK, Fraser M, Favero F, Lawerenz C, Plass C, Sauter G, McPherson JD, van der Kwast T, Korbel J, Schlomm T, Bristow RG, Boutros PC.
Nat Commun. 2017 Sep 22;8(1):656. doi: 10.1038/s41467-017-00377-y. PubMed PMID: 28939825; PubMed Central PMCID: PMC5610241.

Secondary multidrug efflux pump mutants alter Escherichia coli biofilm growth in the presence of cationic antimicrobial compounds.
Bay DC, Stremick CA, Slipski CJ, Turner RJ. Res Microbiol. 2017 Apr;168(3):208-221. doi: 10.1016/j.resmic.2016.11.003. Epub 2016 Nov 22. PubMed PMID: 27884783.

Identification of complex genomic rearrangements in cancers using CouGaR.
Dzamba M, Ramani AK, Buczkowicz P, Jiang Y, Yu M, Hawkins C, Brudno M. Genome Res. 2017 Jan;27(1):107-117. doi: 10.1101/gr.211201.116. Epub 2016 Nov 14. PubMed PMID: 27986820; PubMed Central PMCID: PMC5204335.

Legionella pneumophila OxyR Is a redundant transcriptional regulator that contributes to expression control of the two-component CpxRA system.
Tanner JR, Patel PG, Hellinga JR, Donald LJ, Jimenez C, LeBlanc JJ, Brassinga AK. J Bacteriol. 2017 Feb 14;199(5). pii: e00690-16. doi: 10.1128/JB.00690-16. Print 2017 Mar 1. PubMed PMID: 27994017; PubMed Central PMCID: PMC5309917.

Key residues at Third CDR3ß position impact structure and antigen recognition of human invariant NK TCRs.
Chamoto K, Guo T, Scally SW, Kagoya Y, Anczurowski M, Wang CH, Rahman MA, Saso K, Butler MO, Chiu PP, Julien JP, Hirano N. J Immunol. 2017 Feb 1;198(3):1056-1065. doi: 10.4049/jimmunol.1601556. Epub 2016 Dec 21. PubMed PMID: 28003379; PubMed Central PMCID: PMC5262525.

Differential HDAC1 and 2 Recruitment by Members of the MIER Family. Derwish R, Paterno GD, Gillespie LL.
PLoS One. 2017 Jan 3;12(1):e0169338. doi: 10.1371/journal.pone.0169338. eCollection 2017. PubMed PMID: 28046085; PubMed Central PMCID: PMC5207708.

The DNA target determines the dimerization partner selected by bHLHZ-like hybrid proteins AhRJun and ArntFos.
Inamoto I, Chen G, Shin JA. Mol Biosyst. 2017 Feb 28;13(3):476-488. doi: 10.1039/c6mb00795c. PubMed PMID: 28102866.

Irisin in goldfish (Carassius auratus): effects of irisin injections on feeding behavior and expression of appetite regulators, uncoupling proteins and lipoprotein lipase, and fasting-induced changes in FNDC5 expression.
Butt ZD, Hackett JD, Volkoff H. Peptides. 2017 Apr;90:27-36. doi: 10.1016/j.peptides.2017.02.003. Epub 2017 Feb 20. PubMed PMID: 28219696.

The dynamic DNA methylation landscape of the mutL homolog 1 shore is altered by MLH1-93G>A polymorphism in normal tissues and colorectal cancer.
Savio AJ, Mrkonjic M, Lemire M, Gallinger S, Knight JA, Bapat B. Clin Epigenetics. 2017 Mar 9;9:26. doi: 10.1186/s13148-017-0326-6. eCollection 2017. PubMed PMID: 28293327; PubMed Central PMCID: PMC5345264. (bisulfite sequencing)

Immunohistochemical mapping and transcript expression of the GPA2/GPB5 receptor in tissues of the adult mosquito, Aedes aegypti.
Rocco DA, Kim DH, Paluzzi JV. Cell Tissue Res. 2017 Aug;369(2):313-330. doi: 10.1007/s00441-017-2610-3. Epub 2017 Apr 11. PubMed PMID: 28401307.

Fungus causing white-nose syndrome in bats accumulates genetic variability in North America with no sign of recombination.
Trivedi J, Lachapelle J, Vanderwolf KJ, Misra V, Willis CKR, Ratcliffe JM, Ness RW, Anderson JB, Kohn LM. mSphere. 2017 Jul 12;2(4). pii: e00271-17. doi: 10.1128/mSphereDirect.00271-17. eCollection 2017 Jul-Aug. PubMed PMID: 28713859; PubMed Central PMCID: PMC5506559.

A map of human mitochondrial protein interactions linked to neurodegeneration reveals new mechanisms of redox homeostasis and NF-kB signaling.
Malty RH, Aoki H, Kumar A, Phanse S, Amin S, Zhang Q, Minic Z, Goebels F, Musso G, Wu Z, Abou-Tok H, Meyer M, Deineko V, Kassir S, Sidhu V, Jessulat M, Scott NE, Xiong X, Vlasblom J, Prasad B, Foster LJ, Alberio T, Garavaglia B, Yu H, Bader GD, Nakamura K, Parkinson J, Babu M. Cell Syst. 2017 Dec 27;5(6):564-577.e12. doi: 10.1016/j.cels.2017.10.010. Epub 2017 Nov 8. PubMed PMID: 29128334; PubMed Central PMCID: PMC5746455. (Sanger sequencing)

Single nucleotide polymorphisms and domain/splice variants modulate assembly and elastomeric properties of human elastin. Implications for tissue specificity and durability of elastic tissue.
Miao M, Reichheld SE, Muiznieks LD, Sitarz EE, Sharpe S, Keeley FW. Biopolymers. 2017 May;107(5). doi: 10.1002/bip.23007. PubMed PMID: 27997981. (Sanger sequencing)

The seasonal timing of snowshoe hare virus transmission on the island of Newfoundland, Canada.
Carson PK, Holloway K, Dimitrova K, Rogers L, Chaulk AC, Lang AS, Whitney HG, Drebot MA, Chapman TW. J Med Entomol. 2017 May 1;54(3):712-718. doi: 10.1093/jme/tjw219. PubMed PMID: 28069630. (Sanger sequencing)


Citations Explicity Mentioning TCAG-Hosted Websites

(there are also hundreds of Database of Genomic Variants citations not shown here)

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.
Grünblatt E, Oneda B, Ekici AB, Ball J, Geissler J, Uebe S, Romanos M, Rauch A, Walitza S. BMC Med Genomics. 2017 Nov 28;10(1):68. doi: 10.1186/s12920-017-0299-5. PubMed PMID: 29179725; PubMed Central PMCID: PMC5704537. (DGV)

Web sites of interest to immunologists.
Current Protocols 02 February 2017 https://doi.org/10.1002/cpim.21.

Chromosomal aberrations in children with autism spectrum disorders in upper Egypt.
Elserogy, Yasser & Saad, Khaled & Alatram, Abdulrahman & Othman, Hisham & Abdelbaseer, Khaled & elabd omran, Ahmed. (2017). Anatolian Journal of Psychiatry. 18. :243-249. 10.5455/apd.244540. (chromosome 7 database)

A Survey of epidemiological studies and risk factors of ASD, with a focus on China.
Meng Wu, PhD, Yiming Wu, BS, Li Yu, Jun Liu, MD, Mei Zhang, PhD, Xunjun Kong, MD, Bai-Lin Wu, MMed, PhD. N A J Med Sci. 2017;10(3):124-132. DOI: 10.7156/najms.2017.1003124 (autism chromosome rearrangement database)

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Casciato S, Gambardella S, Mascia A, Quarato PP, D'Aniello A, Ackurina Y, Albano V, Fornai F, Scala S, Di Gennaro G. Int J Neurosci. 2017 Dec;127(12):1150-1153. doi: 10.1080/00207454.2017.1337012. Epub 2017 Jun 12. PubMed PMID: 28556688. (Lafora epilepsy database)


Statistical Analysis

Novel 25 kb deletion of MERTK causes retinitis pigmentosa with severe progression
Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO. 2017. Investigative Ophthalmology and Visual Science (IOVS) 58:1736-1742. PMID 28324114

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

Assessment of TP53 polymorphisms and MDM2 SNP309 in premenopausal breast cancer risk.
Samuel N, Id Said B, Guha T, Novokmet A, Li W, Silwal-Pandit L, Børrsen-Dale AL, Langerød A, Hudson TJ, Malkin D. Hum Mutat. 2017 Mar;38(3):265-268. doi: 10.1002/humu.23154. Epub 2017 Jan 23. PubMed PMID: 27957778.


Biobanking

Loss of the arginine methyltranferase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S; Care4Rare Canada Consortium, Boycott KM, Chitayat D. Clin Genet. 2017 May;91(5):708-716. doi: 10.1111/cge.12884. Epub 2016 Nov 30. PubMed PMID: 27718516. (LCL establishment & banking)

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM. Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077. PubMed PMID: 28334793. (LCL establishment & banking)


Synthesis

Brief report: functional interaction of endoplasmic reticulum aminopeptidase 2 and HLA-B27 activates the unfolded protein response.
Zhang Z, Ciccia F, Zeng F, Guggino G, Yee K, Abdullah H, Silverberg MS, Alessandro R, Triolo G, Haroon N. Arthritis Rheumatol. 2017 May;69(5):1009-1015. doi: 10.1002/art.40033. PubMed PMID: 28029742.


Multiple Facilities or General Acknowledgment

Efficient generation of targeted large insertions by microinjection into two-cell-stage mouse embryos.
Gu B, Posfai E, Rossant J. Nat Biotechnol. 2018 Aug;36(7):632-637. doi: 10.1038/nbt.4166. Epub 2018 Jun 11. PubMed PMID: 29889212. (ddPCR copy number & Sanger sequencing)

Fate mapping of human glioblastoma reveals an invariant stem cell hierarchy.
Lan X, Jörg DJ, Cavalli FMG, Richards LM, Nguyen LV, Vanner RJ, Guilhamon P, Lee L, Kushida MM, Pellacani D, Park NI, Coutinho FJ, Whetstone H, Selvadurai HJ, Che C, Luu B, Carles A, Moksa M, Rastegar N, Head R, Dolma S, Prinos P, Cusimano MD, Das S, Bernstein M, Arrowsmith CH, Mungall AJ, Moore RA, Ma Y, Gallo M, Lupien M, Pugh TJ, Taylor MD, Hirst M, Eaves CJ, Simons BD, Dirks PB. Nature. 2017 Sep 14;549(7671):227-232. doi: 10.1038/nature23666. Epub 2017 Aug 30. PubMed PMID: 28854171; PubMed Central PMCID: PMC5608080. (microsatellite genotyping, Illumina sequencing)

ASCL1 reorganizes chromatin to direct neuronal fate and suppress tumorigenicity of glioblastoma stem cells.
Park NI, Guilhamon P, Desai K, McAdam RF, Langille E, O'Connor M, Lan X, Whetstone H, Coutinho FJ, Vanner RJ, Ling E, Prinos P, Lee L, Selvadurai H, Atwal G, Kushida M, Clarke ID, Voisin V, Cusimano MD, Bernstein M, Das S, Bader G, Arrowsmith CH, Angers S, Huang X, Lupien M, Dirks PB. Cell Stem Cell. 2017 Aug 3;21(2):209-224.e7. doi: 10.1016/j.stem.2017.06.004. Epub 2017 Jul 14. PubMed PMID: 28712938. (acknowledges TCAG)


Other

Genetic overlap found in socially unresponsive bees and human ASD-linked genes.
Collins Thomas R. Neurology Today: September 21, 2017, Volume 17, Issue 18, pp. 28-29. doi: 10.1097/01.NT.0000525671.04894.d9 (commentary)

Repetitive transcranial magnetic stimulation for the treatment of executive function deficits in autism spectrum disorder: clinical trial approach.
Ameis SH, Daskalakis ZJ, Blumberger DM, Desarkar P, Drmic I, Mabbott DJ, Lai MC, Croarkin PE, Szatmari P. J Child Adolesc Psychopharmacol. 2017 Jun;27(5):413-421. doi: 10.1089/cap.2016.0146. Epub 2017 Mar 27. PubMed PMID: 28346865; PubMed Central PMCID: PMC5510034. (Autism Research Unit)


Internal / Collaboration

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C. Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec. PubMed PMID: 29264391; PubMed Central PMCID: PMC5735305.

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.
Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT. NPJ Genom Med. 2017 Sep 28;2:28. doi: 10.1038/s41525-017-0031-6. eCollection 2017. PubMed PMID: 29263838; PubMed Central PMCID: PMC5677976.

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. NPJ Genom Med. 2017 May 26;2:19. doi: 10.1038/s41525-017-0021-8. eCollection 2017. PubMed PMID: 29263831; PubMed Central PMCID: PMC5677914.

Characterization of large copy number variation in Mexican type 2 diabetes subjects.
de Jesús Ascencio-Montiel I, Pinto D, Parra EJ, Valladares-Salgado A, Cruz M, Scherer SW. Sci Rep. 2017 Dec 6;7(1):17105. doi: 10.1038/s41598-017-17361-7. PubMed PMID: 29213072; PubMed Central PMCID: PMC5719030.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Genome Med. 2017 Nov 30;9(1):105. doi: 10.1186/s13073-017-0488-z. PubMed PMID: 29187259; PubMed Central PMCID: PMC5708103.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20. PubMed PMID: 29158552; PubMed Central PMCID: PMC5865210.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW. Mol Autism. 2017 Nov 9;8:59. doi: 10.1186/s13229-017-0175-3. eCollection 2017. PubMed PMID: 29152164; PubMed Central PMCID: PMC5679329.

Pathway enrichment analysis of -omics data.
Juri Reimand, Ruth Isserlin, Veronique Voisin, Mike Kucera, Christian Tannus-Lopes, Asha Rostamianfar, Lina Wadi, Mona Meyer, Jeff Wong, Changjiang Xu, Daniele Merico, Gary D. Bader. bioRxiv 232835; doi: https://doi.org/10.1101/232835

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19. PubMed PMID: 27195815; PubMed Central PMCID: PMC4980119.

Preferential expression of IGHV and IGHD encoding antibodies with exceptionally long CDR3H and a rapid global shift in transcriptome characterizes development of bovine neonatal immunity.
Pasman Y, Merico D, Kaushik AK. Dev Comp Immunol. 2017 Feb;67:495-507. doi: 10.1016/j.dci.2016.08.020. Epub 2016 Sep 4. PubMed PMID: 27601209.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. PubMed PMID: 27240531; PubMed Central PMCID: PMC5508252.

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA. Neurol Genet. 2017 Sep 22;3(5):e189. doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct. PubMed PMID: 28955728; PubMed Central PMCID: PMC5610043.

Oxytocin receptor polymorphisms are differentially associated with social abilities across neurodevelopmental disorders.
Baribeau DA, Dupuis A, Paton TA, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Lerch J, Anagnostou E. Sci Rep. 2017 Sep 14;7(1):11618. doi: 10.1038/s41598-017-10821-0. PubMed PMID: 28912494; PubMed Central PMCID: PMC5599599.

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.
Bassett AS, Costain G, Marshall CR. Prenat Diagn. 2017 Jan;37(1):61-69. doi: 10.1002/pd.4935. Epub 2016 Nov 14. PubMed PMID: 27718271; PubMed Central PMCID: PMC5243851.

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N. Am J Med Genet A. 2017 Nov;173(11):3070-3074. doi: 10.1002/ajmg.a.38354. Epub 2017 Sep 12. PubMed PMID: 28898547.

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16. PubMed PMID: 27874174.

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ. J Med Ethics. 2017 Aug;43(8):535-539. doi: 10.1136/medethics-2016-103564. Epub 2016 Nov 25. PubMed PMID: 27888232.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, äzen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W. Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7. PubMed PMID: 27927641; PubMed Central PMCID: PMC5530341.

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. Am J Med Genet A. 2017 Oct;173(10):2725-2730. doi: 10.1002/ajmg.a.38352. Epub 2017 Aug 25. PubMed PMID: 28840640.

De Novo genome and transcriptome assembly of the Canadian beaver (Castor canadensis).
Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RK, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, Ho K, Hu Z, Pullenayegum S, Samler K, Shipstone A, Tsoi F, Wang T, Pereira SL, Rostami P, Ryan CA, Tong AH, Ng K, Sundaravadanam Y, Simpson JT, Lim BK, Engstrom MD, Dutton CJ, Kerr KC, Franke M, Rapley W, Wintle RF, Scherer SW. G3 (Bethesda). 2017 Feb 9;7(2):755-773. doi: 10.1534/g3.116.038208. PubMed PMID: 28087693; PubMed Central PMCID: PMC5295618.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6. PubMed PMID: 28263302; PubMed Central PMCID: PMC5501701.

Advanced analytical methodologies for measuring healthy ageing and its determinants, using factor analysis and machine learning techniques: the ATHLOS project.
Caballero FF, Soulis G, Engchuan W, Sánchez-Niubó A, Arndt H, Ayuso-Mateos JL, Haro JM, Chatterji S, Panagiotakos DB. Sci Rep. 2017 Mar 10;7:43955. doi: 10.1038/srep43955. PubMed PMID: 28281663; PubMed Central PMCID: PMC5345043.

Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.
Woodbury-Smith M, Bilder DA, Morgan J, Jerominski L, Darlington T, Dyer T, Paterson AD, Coon H. J Neurodev Disord. 2017 Feb 13;9:5. doi: 10.1186/s11689-017-9187-8. eCollection 2017. PubMed PMID: 28289475; PubMed Central PMCID: PMC5304400.

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW. Am J Med Genet A. 2017 May;173(5):1287-1293. doi: 10.1002/ajmg.a.38176. Epub 2017 Apr 3. PubMed PMID: 28371330.

Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?
Ann Clin Transl Neurol. Strug LJ, Pal DK. 2017 Mar 23;4(4):278-280. doi: 10.1002/acn3.403. eCollection 2017 Apr. PubMed PMID: 28382310; PubMed Central PMCID: PMC5376750.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
Eur J Hum Genet. O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. 2017 Jun;25(6):775-778. doi: 10.1038/ejhg.2017.39. Epub 2017 Apr 5. PubMed PMID: 28378817; PubMed Central PMCID: PMC5477367.

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Sagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH. Am J Med Genet A. 2017 Jun;173(6):1656-1662. doi: 10.1002/ajmg.a.38171. Epub 2017 Apr 13. PubMed PMID: 28407363; PubMed Central PMCID: PMC5444998.

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.
Butcher NJ, Merico D, Zarrei M, Ogura L, Marshall CR, Chow EWC, Lang AE, Scherer SW, Bassett AS. PLoS One. 2017 Apr 21;12(4):e0173944. doi: 10.1371/journal.pone.0173944. eCollection 2017. PubMed PMID: 28430790; PubMed Central PMCID: PMC5400231.

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ. Genet Med. 2017 Nov;19(11):1268-1275. doi: 10.1038/gim.2017.47. Epub 2017 May 4. PubMed PMID: 28471434.

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM. J Allergy Clin Immunol. 2018 May;141(5):1818-1830.e2. doi: 10.1016/j.jaci.2017.06.047. Epub 2017 Aug 19. PubMed PMID: 28826773.

Variability of creatine metabolism genes in children with autism spectrum disorder.
Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A. Int J Mol Sci. 2017 Jul 31;18(8). pii: E1665. doi: 10.3390/ijms18081665. PubMed PMID: 28758966; PubMed Central PMCID: PMC5578055.

Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28. PubMed PMID: 28750581; PubMed Central PMCID: PMC5665703. (microarray, informatics)

microRNA-143/145 loss induces Ras signaling to promote aggressive Pten-deficient basal-like breast cancer.
Wang S, Liu JC, Ju Y, Pellecchia G, Voisin V, Wang DY, Leha L R, Ben-David Y, Bader GD, Zacksenhaus E. JCI Insight. 2017 Aug 3;2(15). pii: 93313. doi: 10.1172/jci.insight.93313. [Epub ahead of print] PubMed PMID: 28768903; PubMed Central PMCID: PMC5543917. (microarray)

Novel 25 kb deletion of MERTK causes retinitis pigmentosa with severe progression.
Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864. PubMed PMID: 28324114. (microarray)

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. PubMed PMID: 28714951; PubMed Central PMCID: PMC5672813.

Serum sonic hedgehog (SHH) and interleukin-(IL-6) as dual prognostic biomarkers in progressive metastatic breast cancer.
Noman AS, Uddin M, Chowdhury AA, Nayeem MJ, Raihan Z, Rashid MI, Azad AK, Rahman ML, Barua D, Sultana A, Shirin A, Ferdous J, Parag RR, Rahman SM, Mahmud MR, Jerin CS, Jahan N, Siddiqua A, Ara T, Sabur EB, Alam SS, Baidya S, Akther S, Rahman MZ, Banu T, Murugan AK, Sabri S, Islam SMS, Karakas B, Aboussekhra A, Yeger H, Farhat WA, Islam SS. Sci Rep. 2017 May 11;7(1):1796. doi: 10.1038/s41598-017-01268-4. PubMed PMID: 28496132; PubMed Central PMCID: PMC5431756.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. Mol Autism. 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9. eCollection 2017. PubMed PMID: 28540026; PubMed Central PMCID: PMC5441062.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15. PubMed PMID: 28504703; PubMed Central PMCID: PMC5552240.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun. PubMed PMID: 28589176; PubMed Central PMCID: PMC5446782.

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.
Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW.NPJ Genom Med. 2017 May 3;2. pii: 17. doi: 10.1038/s41525-017-0020-9. PubMed PMID: 28649445; PubMed Central PMCID: PMC5482711.

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.
Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA. Neurol Genet. 2017 May 23;3(3):e156. doi: 10.1212/NXG.0000000000000156. eCollection 2017 Jun. PubMed PMID: 28626794; PubMed Central PMCID: PMC5458666.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017. PubMed PMID: 28670437; PubMed Central PMCID: PMC5485587.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017. PubMed PMID: 28670437; PubMed Central PMCID: PMC5485587.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19. PubMed PMID: 27759917; PubMed Central PMCID: PMC5833302. (Ontario Population Genomics Platform controls)

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.
Schejter YD, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. NPJ Genom Med. 2017; 2: 23. Published online 2017 Jul 10. doi: 10.1038/s41525-017-0024-5. PMCID: PMC5677950.

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