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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

dc.contributor.authorRedin, Claire
dc.contributor.authorBrand, Harrison
dc.contributor.authorCollins, Ryan L
dc.contributor.authorKammin, Tammy
dc.contributor.authorMitchell, Elyse
dc.contributor.authorHodge, Jennelle C
dc.contributor.authorHanscom, Carrie
dc.contributor.authorPillalamarri, Vamsee
dc.contributor.authorSeabra, Catarina M
dc.contributor.authorAbbott, Mary-Alice
dc.contributor.authorAbdul-Rahman, Omar A
dc.contributor.authorAberg, Erika
dc.contributor.authorAdley, Rhett
dc.contributor.authorAlcaraz-Estrada, Sofia L
dc.contributor.authorAlkuraya, Fowzan S
dc.contributor.authorAn, Yu
dc.contributor.authorAnderson, Mary-Anne
dc.contributor.authorAntolik, Caroline
dc.contributor.authorAnyane-Yeboa, Kwame
dc.contributor.authorAtkin, Joan F
dc.contributor.authorBartell, Tina
dc.contributor.authorBernstein, Jonathan A
dc.contributor.authorBeyer, Elizabeth
dc.contributor.authorBlumenthal, Ian
dc.contributor.authorBongers, Ernie M H F
dc.contributor.authorBrilstra, Eva H
dc.contributor.authorBrown, Chester W
dc.contributor.authorBrüggenwirth, Hennie T
dc.contributor.authorCallewaert, Bert
dc.contributor.authorChiang, Colby
dc.contributor.authorCorning, Ken
dc.contributor.authorCox, Helen
dc.contributor.authorCuppen, Edwin
dc.contributor.authorCurrall, Benjamin B
dc.contributor.authorCushing, Tom
dc.contributor.authorDavid, Dezso
dc.contributor.authorDeardorff, Matthew A
dc.contributor.authorDheedene, Annelies
dc.contributor.authorD'Hooghe, Marc
dc.contributor.authorde Vries, Bert B A
dc.contributor.authorEarl, Dawn L
dc.contributor.authorFerguson, Heather L
dc.contributor.authorFisher, Heather
dc.contributor.authorFitzPatrick, David R
dc.contributor.authorGerrol, Pamela
dc.contributor.authorGiachino, Daniela
dc.contributor.authorGlessner, Joseph T
dc.contributor.authorGliem, Troy
dc.contributor.authorGrady, Margo
dc.contributor.authorGraham, Brett H
dc.contributor.authorGriffis, Cristin
dc.contributor.authorGripp, Karen W
dc.contributor.authorGropman, Andrea L
dc.contributor.authorHanson-Kahn, Andrea
dc.contributor.authorHarris, David J
dc.contributor.authorHayden, Mark A
dc.contributor.authorHill, Rosamund
dc.contributor.authorHochstenbach, Ron
dc.contributor.authorHoffman, Jodi D
dc.contributor.authorHopkin, Robert J
dc.contributor.authorHubshman, Monika W
dc.contributor.authorInnes, A Micheil
dc.contributor.authorIrons, Mira
dc.contributor.authorIrving, Melita
dc.contributor.authorJacobsen, Jessie C
dc.contributor.authorJanssens, Sandra
dc.contributor.authorJewett, Tamison
dc.contributor.authorJohnson, John P
dc.contributor.authorJongmans, Marjolijn C
dc.contributor.authorKahler, Stephen G
dc.contributor.authorKoolen, David A
dc.contributor.authorKorzelius, Jerome
dc.contributor.authorKroisel, Peter M
dc.contributor.authorLacassie, Yves
dc.contributor.authorLawless, William
dc.contributor.authorLemyre, Emmanuelle
dc.contributor.authorLeppig, Kathleen
dc.contributor.authorLevin, Alex V
dc.contributor.authorLi, Haibo
dc.contributor.authorLi, Hong
dc.contributor.authorLiao, Eric C
dc.contributor.authorLim, Cynthia
dc.contributor.authorLose, Edward J
dc.contributor.authorLucente, Diane
dc.contributor.authorMacera, Michael J
dc.contributor.authorManavalan, Poornima
dc.contributor.authorMandrile, Giorgia
dc.contributor.authorMarcelis, Carlo L
dc.contributor.authorMargolin, Lauren
dc.contributor.authorMason, Tamara
dc.contributor.authorMasser-Frye, Diane
dc.contributor.authorMcClellan, Michael W
dc.contributor.authorMendoza, Cinthya J Zepeda
dc.contributor.authorMenten, Björn
dc.contributor.authorMiddelkamp, Sjors
dc.contributor.authorMikami, Liya R
dc.contributor.authorMoe, Emily
dc.contributor.authorMohammed, Shehla
dc.contributor.authorMononen, Tarja
dc.contributor.authorMortenson, Megan E
dc.contributor.authorMoya, Graciela
dc.contributor.authorNieuwint, Aggie W
dc.contributor.authorOrdulu, Zehra
dc.contributor.authorParkash, Sandhya
dc.contributor.authorPauker, Susan P
dc.contributor.authorPereira, Shahrin
dc.contributor.authorPerrin, Danielle
dc.contributor.authorPhelan, Katy
dc.contributor.authorPina Aguilar, Raul Eduardo
dc.contributor.authorPoddighe, Pino J
dc.contributor.authorPregno, Giulia
dc.contributor.authorRaskin, Salmo
dc.contributor.authorReis, Linda
dc.contributor.authorRhead, William
dc.contributor.authorRita, Debra
dc.contributor.authorRenkens, Ivo
dc.contributor.authorRoelens, Filip
dc.contributor.authorRuliera, Jayla
dc.contributor.authorRump, Patrick
dc.contributor.authorSchilit, Samantha L P
dc.contributor.authorShaheen, Ranad
dc.contributor.authorSparkes, Rebecca
dc.contributor.authorSpiegel, Erica
dc.contributor.authorStevens, Blair
dc.contributor.authorStone, Matthew R
dc.contributor.authorTagoe, Julia
dc.contributor.authorThakuria, Joseph V
dc.contributor.authorvan Bon, Bregje W
dc.contributor.authorvan de Kamp, Jiddeke
dc.contributor.authorvan Der Burgt, Ineke
dc.contributor.authorvan Essen, Ton
dc.contributor.authorvan Ravenswaaij-Arts, Conny M
dc.contributor.authorvan Roosmalen, Markus J
dc.contributor.authorVergult, Sarah
dc.contributor.authorVolker-Touw, Catharina M L
dc.contributor.authorWarburton, Dorothy P
dc.contributor.authorWaterman, Matthew J
dc.contributor.authorWiley, Susan
dc.contributor.authorWilson, Anna
dc.contributor.authorYerena-de Vega, Maria de la Concepcion A
dc.contributor.authorZori, Roberto T
dc.contributor.authorLevy, Brynn
dc.contributor.authorBrunner, Han G
dc.contributor.authorde Leeuw, Nicole
dc.contributor.authorKloosterman, Wigard P
dc.contributor.authorThorland, Erik C
dc.contributor.authorMorton, Cynthia C
dc.contributor.authorGusella, James F
dc.contributor.authorTalkowski, Michael E
dc.date.accessioned2017-05-14T23:02:18Z
dc.date.available2017-05-14T23:02:18Z
dc.date.issued2017-01
dc.identifier72764538
dc.identifier938e55df-abb1-4420-9af6-918f09ad369b
dc.identifier27841880
dc.identifier84995436852
dc.identifier.citationRedin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E , Blumenthal , I , Bongers , E M H F , Brilstra , E H , Brown , C W , Brüggenwirth , H T , Callewaert , B , Chiang , C , Corning , K , Cox , H , Cuppen , E , Currall , B B , Cushing , T , David , D , Deardorff , M A , Dheedene , A , D'Hooghe , M , de Vries , B B A , Earl , D L , Ferguson , H L , Fisher , H , FitzPatrick , D R , Gerrol , P , Giachino , D , Glessner , J T , Gliem , T , Grady , M , Graham , B H , Griffis , C , Gripp , K W , Gropman , A L , Hanson-Kahn , A , Harris , D J , Hayden , M A , Hill , R , Hochstenbach , R , Hoffman , J D , Hopkin , R J , Hubshman , M W , Innes , A M , Irons , M , Irving , M , Jacobsen , J C , Janssens , S , Jewett , T , Johnson , J P , Jongmans , M C , Kahler , S G , Koolen , D A , Korzelius , J , Kroisel , P M , Lacassie , Y , Lawless , W , Lemyre , E , Leppig , K , Levin , A V , Li , H , Li , H , Liao , E C , Lim , C , Lose , E J , Lucente , D , Macera , M J , Manavalan , P , Mandrile , G , Marcelis , C L , Margolin , L , Mason , T , Masser-Frye , D , McClellan , M W , Mendoza , C J Z , Menten , B , Middelkamp , S , Mikami , L R , Moe , E , Mohammed , S , Mononen , T , Mortenson , M E , Moya , G , Nieuwint , A W , Ordulu , Z , Parkash , S , Pauker , S P , Pereira , S , Perrin , D , Phelan , K , Pina Aguilar , R E , Poddighe , P J , Pregno , G , Raskin , S , Reis , L , Rhead , W , Rita , D , Renkens , I , Roelens , F , Ruliera , J , Rump , P , Schilit , S L P , Shaheen , R , Sparkes , R , Spiegel , E , Stevens , B , Stone , M R , Tagoe , J , Thakuria , J V , van Bon , B W , van de Kamp , J , van Der Burgt , I , van Essen , T , van Ravenswaaij-Arts , C M , van Roosmalen , M J , Vergult , S , Volker-Touw , C M L , Warburton , D P , Waterman , M J , Wiley , S , Wilson , A , Yerena-de Vega , M D L C A , Zori , R T , Levy , B , Brunner , H G , de Leeuw , N , Kloosterman , W P , Thorland , E C , Morton , C C , Gusella , J F & Talkowski , M E 2017 , ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ' , Nature Genetics , vol. 49 , no. 1 , pp. 36-45 . https://doi.org/10.1038/ng.3720en
dc.identifier.issn1061-4036
dc.identifier.otherORCID: /0000-0002-2043-4282/work/48201875
dc.identifier.urihttp://hdl.handle.net/2164/8627
dc.format.extent10
dc.format.extent2992152
dc.language.isoeng
dc.relation.ispartofNature Geneticsen
dc.subjectcytogeneticsen
dc.subjectstructural variationen
dc.subjectbalanced chromosomal abnormalityen
dc.subjectcongenital anomalyen
dc.subjectintellectual disabilityen
dc.subjectautismen
dc.subjecttranslocationen
dc.subjectinversionen
dc.subjectchromothripsisen
dc.subjecttopologically associated domain (TAD)en
dc.subjectMEF2Cen
dc.subjectR Medicineen
dc.subject.lccRen
dc.titleThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.description.statusPeer revieweden
dc.identifier.doi10.1038/ng.3720
dc.date.embargoedUntil2017-05-14
dc.identifier.vol49en
dc.identifier.iss1en


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