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- [2] Biallelic variants in DNA2 cause microcephalic primordial dwarfismHUMAN MUTATION, 2019, 40 (08) : 1063 - 1070Tarnauskaite, ZygimanteBicknell, Louise S.Marsh, Joseph A.Murray, Jennie E.Parry, David A.Logan, Clare, VBober, Michael B.deSilva, Deepthi C.Duker, Angela L.Sillence, DavidWise, CarolJackson, Andrew P.Murina, OlgaReijns, Martin A. M.
- [3] Mutations in the NHEJ Component XRCC4 Cause Primordial DwarfismAMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (03) : 412 - 424Murray, Jennie E.van der Burg, MirjamIJspeert, HannaCarroll, PaulaWu, QianOchi, TakashiLeitch, AndreaMiller, Edward S.Kysela, BorisJawad, AlirezaBottani, ArmandBrancati, FrancescoCappa, MarcoCormier-Daire, ValerieDeshpande, CharuFaqeih, Eissa A.Graham, Gail E.Ranza, EmmanuelleBlundell, Tom L.Jackson, Andrew P.Stewart, Grant S.Bicknell, Louise S.
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- [6] Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismNATURE GENETICS, 2017, 49 (04) : 537 - +Reynolds, John J.Bicknell, Louise S.Carroll, PaulaHiggs, Martin R.Shaheen, RanadMurray, Jennie E.Papadopoulos, Dimitrios K.Leitch, AndreaMurina, OlgaTarnauskaite, ZygimanteWessel, Sarah R.Zlatanou, AnastasiaVernet, Audreyvon Kriegsheim, AlexMottram, Rachel M. A.Logan, Clare V.Bye, HannahLi, YunBrean, AlexanderMaddirevula, SateeshChallis, Rachel C.Skouloudaki, KassianiAlmoisheer, AgaadirAlsaif, Hessa S.Amar, AriellaPrescott, Natalie J.Bober, Michael B.Duker, AngelaFaqeih, EissaSeidahmed, Mohammed ZainAl Tala, SaeedAlswaid, AbdulrahmanAhmed, SaleemAl-Aama, Jumana YousufAltmueller, JanineAl Balwi, MohammedBrady, Angela F.Chessa, LucianaCox, HelenFischetto, RitaHeller, RaoulHenderson, Bertram D.Hobson, EmmaNurnberg, PeterPercin, E. FerdaPeron, AngelaSpaccini, LuiginaQuigley, Alan J.Thakur, SeemaWise, Carol A.
- [7] Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismNature Genetics, 2017, 49 : 537 - 549John J ReynoldsLouise S BicknellPaula CarrollMartin R HiggsRanad ShaheenJennie E MurrayDimitrios K PapadopoulosAndrea LeitchOlga MurinaŽygimantė TarnauskaitėSarah R WesselAnastasia ZlatanouAudrey VernetAlex von KriegsheimRachel M A MottramClare V LoganHannah ByeYun LiAlexander BreanSateesh MaddirevulaRachel C ChallisKassiani SkouloudakiAgaadir AlmoisheerHessa S AlsaifAriella AmarNatalie J PrescottMichael B BoberAngela DukerEissa FaqeihMohammed Zain SeidahmedSaeed Al TalaAbdulrahman AlswaidSaleem AhmedJumana Yousuf Al-AamaJanine AltmüllerMohammed Al BalwiAngela F BradyLuciana ChessaHelen CoxRita FischettoRaoul HellerBertram D HendersonEmma HobsonPeter NürnbergE Ferda PercinAngela PeronLuigina SpacciniAlan J QuigleySeema ThakurCarol A Wise
- [8] Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismHuman Genetics, 2014, 133 : 1023 - 1039Ghayda M. MirzaaBenjamin VitreGillian CarpenterIga AbramowiczJoseph G. GleesonAlex R. PaciorkowskiDon W. ClevelandWilliam B. DobynsMark O’Driscoll
- [9] Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismHUMAN GENETICS, 2014, 133 (08) : 1023 - 1039Mirzaa, Ghayda M.Vitre, BenjaminCarpenter, GillianAbramowicz, IgaGleeson, Joseph G.Paciorkowski, Alex R.Cleveland, Don W.Dobyns, William B.O'Driscoll, Mark
- [10] Mutations in the pericentrin (PCNT) gene cause primordial dwarfismSCIENCE, 2008, 319 (5864) : 816 - 819Rauch, AnitaThiel, Christian T.Schindler, DetlevWick, UrsulaCrow, Yanick J.Ekici, Arif B.van Essen, Anthonie J.Goecke, Timm O.Al-Gazali, LihadhChrzanowska, Krystyna H.Zweier, ChristianeBrunner, Han G.Becker, KristinCurry, Cynthia J.Dallapiccola, BrunoDevriendt, KoenraadDoerfler, ArndKinning, EstherMegarbane, AndreMeinecke, PeterSemple, Robert K.Spranger, StephanieToutain, AnnickTrembath, Richard C.Voss, EgbertWilson, LouiseHennekam, Raoulde Zegher, FrancisDoerr, Helmuth-GuentherReis, Andre