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dc.contributor.authorHaworth, S
dc.contributor.authorShapland, CY
dc.contributor.authorHayward, C
dc.contributor.authorPrins, BP
dc.contributor.authorFelix, JF
dc.contributor.authorMedina-Gomez, C
dc.contributor.authorRivadeneira, F
dc.contributor.authorWang, C
dc.contributor.authorAhluwalia, TS
dc.contributor.authorVrijheid, M
dc.contributor.authorGuxens, M
dc.contributor.authorSunyer, J
dc.contributor.authorTachmazidou, I
dc.contributor.authorWalter, K
dc.contributor.authorIotchkova, V
dc.contributor.authorJackson, A
dc.contributor.authorCleal, L
dc.contributor.authorHuffmann, J
dc.contributor.authorMin, JL
dc.contributor.authorSass, L
dc.contributor.authorTimmers, PRHJ
dc.contributor.authorAl Turki, S
dc.contributor.authorAnderson, CA
dc.contributor.authorAnney, R
dc.contributor.authorAntony, D
dc.contributor.authorArtigas, MS
dc.contributor.authorAyub, M
dc.contributor.authorBala, S
dc.contributor.authorBarrett, JC
dc.contributor.authorBarroso, I
dc.contributor.authorBeales, P
dc.contributor.authorBentham, J
dc.contributor.authorBhattacharya, S
dc.contributor.authorBirney, E
dc.contributor.authorBlackwood, D
dc.contributor.authorBobrow, M
dc.contributor.authorBochukova, E
dc.contributor.authorBolton, PF
dc.contributor.authorBounds, R
dc.contributor.authorBoustred, C
dc.contributor.authorBreen, G
dc.contributor.authorCalissano, M
dc.contributor.authorCarss, K
dc.contributor.authorCharlton, R
dc.contributor.authorChatterjee, K
dc.contributor.authorChen, L
dc.contributor.authorCiampi, A
dc.contributor.authorCirak, S
dc.contributor.authorClapham, P
dc.contributor.authorClement, G
dc.contributor.authorCoates, G
dc.contributor.authorCocca, M
dc.contributor.authorCollier, DA
dc.contributor.authorCosgrove, C
dc.contributor.authorCox, T
dc.contributor.authorCraddock, N
dc.contributor.authorCrooks, L
dc.contributor.authorCurran, S
dc.contributor.authorCurtis, D
dc.contributor.authorDaly, A
dc.contributor.authorDanecek, P
dc.contributor.authorDay, INM
dc.contributor.authorDay-Williams, A
dc.contributor.authorDominiczak, A
dc.contributor.authorDown, T
dc.contributor.authorDu, Y
dc.contributor.authorDunham, I
dc.contributor.authorDurbin, R
dc.contributor.authorEdkins, S
dc.contributor.authorEkong, R
dc.contributor.authorEllis, P
dc.contributor.authorEvans, DM
dc.contributor.authorFarooqi, IS
dc.contributor.authorFitzpatrick, DR
dc.contributor.authorFlicek, P
dc.contributor.authorFloyd, J
dc.contributor.authorFoley, AR
dc.contributor.authorFranklin, CS
dc.contributor.authorFutema, M
dc.contributor.authorGallagher, L
dc.contributor.authorGaunt, TR
dc.contributor.authorGeihs, M
dc.contributor.authorGeschwind, D
dc.contributor.authorGreenwood, CMT
dc.contributor.authorGriffin, H
dc.contributor.authorGrozeva, D
dc.contributor.authorGuo, X
dc.contributor.authorGuo, X
dc.contributor.authorGurling, H
dc.contributor.authorHart, D
dc.contributor.authorHendricks, AE
dc.contributor.authorHolmans, P
dc.contributor.authorHowie, B
dc.contributor.authorHuang, J
dc.contributor.authorHuang, L
dc.contributor.authorHubbard, T
dc.contributor.authorHumphries, SE
dc.contributor.authorHurles, ME
dc.contributor.authorHysi, P
dc.contributor.authorJackson, DK
dc.contributor.authorJamshidi, Y
dc.contributor.authorJoyce, C
dc.contributor.authorKarczewski, KJ
dc.contributor.authorKaye, J
dc.contributor.authorKeane, T
dc.contributor.authorKemp, JP
dc.contributor.authorKennedy, K
dc.contributor.authorKent, A
dc.contributor.authorKeogh, J
dc.contributor.authorKhawaja, F
dc.contributor.authorvan Kogelenberg, M
dc.contributor.authorKolb-Kokocinski, A
dc.contributor.authorLachance, G
dc.contributor.authorLangford, C
dc.contributor.authorLawson, D
dc.contributor.authorLee, I
dc.contributor.authorLek, M
dc.contributor.authorLi, R
dc.contributor.authorLi, Y
dc.contributor.authorLiang, J
dc.contributor.authorLin, H
dc.contributor.authorLiu, R
dc.contributor.authorLonnqvist, J
dc.contributor.authorLopes, LR
dc.contributor.authorLopes, M
dc.contributor.authorMacArthur, DG
dc.contributor.authorMangino, M
dc.contributor.authorMarchini, J
dc.contributor.authorMarenne, G
dc.contributor.authorMaslen, J
dc.contributor.authorMathieson, I
dc.contributor.authorMcCarthy, S
dc.contributor.authorMcGuffin, P
dc.contributor.authorMcIntosh, AM
dc.contributor.authorMcKechanie, AG
dc.contributor.authorMcQuillin, A
dc.contributor.authorMemari, Y
dc.contributor.authorMetrustry, S
dc.contributor.authorMigone, N
dc.contributor.authorMitchison, HM
dc.contributor.authorMoayyeri, A
dc.contributor.authorMorris, A
dc.contributor.authorMorris, J
dc.contributor.authorMuddyman, D
dc.contributor.authorMuntoni, F
dc.contributor.authorNorthstone, K
dc.contributor.authorO'Donovan, MC
dc.contributor.authorO'Rahilly, S
dc.contributor.authorOnoufriadis, A
dc.contributor.authorOualkacha, K
dc.contributor.authorOwen, MJ
dc.contributor.authorPalotie, A
dc.contributor.authorPanoutsopoulou, K
dc.contributor.authorParker, V
dc.contributor.authorParr, JR
dc.contributor.authorPaternoster, L
dc.contributor.authorPaunio, T
dc.contributor.authorPayne, F
dc.contributor.authorPayne, SJ
dc.contributor.authorPerry, JRB
dc.contributor.authorPietilainen, O
dc.contributor.authorPlagnol, V
dc.contributor.authorPollitt, RC
dc.contributor.authorPorteous, DJ
dc.contributor.authorPovey, S
dc.contributor.authorQuail, MA
dc.contributor.authorQuaye, L
dc.contributor.authorRaymond, FL
dc.contributor.authorRehnstrom, K
dc.contributor.authorRichards, JB
dc.contributor.authorRidout, CK
dc.contributor.authorRing, S
dc.contributor.authorRitchie, GRS
dc.contributor.authorRoberts, N
dc.contributor.authorRobinson, RL
dc.contributor.authorSavage, DB
dc.contributor.authorScambler, P
dc.contributor.authorSchiffels, S
dc.contributor.authorSchmidts, M
dc.contributor.authorSchoenmakers, N
dc.contributor.authorScott, RH
dc.contributor.authorSemple, RK
dc.contributor.authorSerra, E
dc.contributor.authorSharp, SI
dc.contributor.authorShaw, A
dc.contributor.authorShihab, HA
dc.contributor.authorShin, S-Y
dc.contributor.authorSkuse, D
dc.contributor.authorSmall, KS
dc.contributor.authorSmee, C
dc.contributor.authorSmith, BH
dc.contributor.authorSoranzo, N
dc.contributor.authorSoutham, L
dc.contributor.authorSpasic-Boskovic, O
dc.contributor.authorSpector, TD
dc.contributor.authorSt Clair, D
dc.contributor.authorStalker, J
dc.contributor.authorStevens, E
dc.contributor.authorSun, J
dc.contributor.authorSurdulescu, G
dc.contributor.authorSuvisaari, J
dc.contributor.authorSyrris, P
dc.contributor.authorTaylor, R
dc.contributor.authorTian, J
dc.contributor.authorTobin, MD
dc.contributor.authorValdes, AM
dc.contributor.authorVandersteen, AM
dc.contributor.authorVijayarangakannan, P
dc.contributor.authorVisscher, PM
dc.contributor.authorWain, LV
dc.contributor.authorWalters, JTR
dc.contributor.authorWang, G
dc.contributor.authorWang, J
dc.contributor.authorWang, Y
dc.contributor.authorWard, K
dc.contributor.authorWheeler, E
dc.contributor.authorWhyte, T
dc.contributor.authorWilliams, HJ
dc.contributor.authorWilliamson, KA
dc.contributor.authorWilson, C
dc.contributor.authorWilson, SG
dc.contributor.authorWong, K
dc.contributor.authorXu, C
dc.contributor.authorYang, J
dc.contributor.authorZhang, F
dc.contributor.authorZhang, P
dc.contributor.authorZheng, H-F
dc.contributor.authorSmith, GD
dc.contributor.authorFisher, SE
dc.contributor.authorWilson, JF
dc.contributor.authorCole, TJ
dc.contributor.authorFernandez-Orth, D
dc.contributor.authorBonnelykke, K
dc.contributor.authorBisgaard, H
dc.contributor.authorPennell, CE
dc.contributor.authorJaddoe, VWV
dc.contributor.authorDedoussis, G
dc.contributor.authorTimpson, N
dc.contributor.authorZeggini, E
dc.contributor.authorVitart, V
dc.contributor.authorSt Pourcain, B
dc.date.accessioned2020-12-10T01:43:12Z
dc.date.available2020-12-10T01:43:12Z
dc.date.issued2019-01-21
dc.identifierpii: 10.1038/s41467-018-07863-x
dc.identifier.citationHaworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J. L. ,... St Pourcain, B. (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-018-07863-x.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11343/253774
dc.description.abstractCranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic factors and low-frequency genetic variation. Here, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV + HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleLow-frequency variation in TP53 has large effects on head circumference and intracranial volume
dc.typeJournal Article
dc.identifier.doi10.1038/s41467-018-07863-x
melbourne.affiliation.departmentMelbourne Law School
melbourne.source.titleNature Communications
melbourne.source.volume10
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1372242
melbourne.contributor.authorKaye, Jane
dc.identifier.eissn2041-1723
melbourne.accessrightsOpen Access


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