000127785 001__ 127785
000127785 005__ 20241125101144.0
000127785 0247_ $$2doi$$a10.1002/ajmg.a.63247
000127785 0248_ $$2sideral$$a134929
000127785 037__ $$aART-2023-134929
000127785 041__ $$aeng
000127785 100__ $$aKaur, Maninder
000127785 245__ $$aGenomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms
000127785 260__ $$c2023
000127785 5060_ $$aAccess copy available to the general public$$fUnrestricted
000127785 5203_ $$aCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.
000127785 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000127785 590__ $$a1.7$$b2023
000127785 592__ $$a0.718$$b2023
000127785 591__ $$aGENETICS & HEREDITY$$b138 / 191 = 0.723$$c2023$$dQ3$$eT3
000127785 593__ $$aGenetics$$c2023$$dQ2
000127785 593__ $$aGenetics (clinical)$$c2023$$dQ3
000127785 594__ $$a3.5$$b2023
000127785 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000127785 700__ $$aBlair, Justin
000127785 700__ $$aDevkota, Batsal
000127785 700__ $$aFortunato, Sierra
000127785 700__ $$aClark, Dinah
000127785 700__ $$aLawrence, Audrey
000127785 700__ $$aKim, Jiwoo
000127785 700__ $$aDo, Wonwook
000127785 700__ $$aSemeo, Benjamin
000127785 700__ $$aKatz, Olivia
000127785 700__ $$aMehta, Devanshi
000127785 700__ $$aYamamoto, Nobuko
000127785 700__ $$aSchindler, Emma
000127785 700__ $$aAl Rawi, Zayd
000127785 700__ $$aWallace, Nina
000127785 700__ $$aWilde, Jonathan J.
000127785 700__ $$aMcCallum, Jennifer
000127785 700__ $$aLiu, Jinglan
000127785 700__ $$aXu, Dongbin
000127785 700__ $$aJackson, Marie
000127785 700__ $$aRentas, Stefan
000127785 700__ $$aTayoun, Ahmad Abou
000127785 700__ $$aZhe, Zhang
000127785 700__ $$aAbdul-Rahman, Omar
000127785 700__ $$aAllen, Bill
000127785 700__ $$aAngula, Moris A.
000127785 700__ $$aAnyane-Yeboa, Kwame
000127785 700__ $$aArgente, Jesús
000127785 700__ $$aArn, Pamela H.
000127785 700__ $$aArmstrong, Linlea
000127785 700__ $$aBasel-Salmon, Lina
000127785 700__ $$aBaynam, Gareth
000127785 700__ $$aBird, Lynne M.
000127785 700__ $$aBruegger, Daniel
000127785 700__ $$aCh'ng, Gaik-Siew
000127785 700__ $$aChitayat, David
000127785 700__ $$aClark, Robin
000127785 700__ $$aCox, Gerald F.
000127785 700__ $$aDave, Usha
000127785 700__ $$aDeBaere, Elfrede
000127785 700__ $$aField, Michael
000127785 700__ $$aGraham Jr, John M.
000127785 700__ $$aGripp, Karen W.
000127785 700__ $$aGreenstein, Robert
000127785 700__ $$aGupta, Neerja
000127785 700__ $$aHeidenreich, Randy
000127785 700__ $$aHoffman, Jodi
000127785 700__ $$aHopkin, Robert J.
000127785 700__ $$aJones, Kenneth L.
000127785 700__ $$aJones, Marilyn C.
000127785 700__ $$aKariminejad, Ariana
000127785 700__ $$aKogan, Jillene
000127785 700__ $$aLace, Baiba
000127785 700__ $$aLeroy, Julian
000127785 700__ $$aLynch, Sally Ann
000127785 700__ $$aMcDonald, Marie
000127785 700__ $$aMeagher, Kirsten
000127785 700__ $$aMendelsohn, Nancy
000127785 700__ $$aMicule, Ieva
000127785 700__ $$aMoeschler, John
000127785 700__ $$aNampoothiri, Sheela
000127785 700__ $$aOhashi, Kaoru
000127785 700__ $$aPowell, Cynthia M.
000127785 700__ $$aRamanathan, Subhadra
000127785 700__ $$aRaskin, Salmo
000127785 700__ $$aRoeder, Elizabeth
000127785 700__ $$aRio, Marlene
000127785 700__ $$aRope, Alan F.
000127785 700__ $$aSangha, Karan
000127785 700__ $$aScheuerle, Angela E.
000127785 700__ $$aSchneider, Adele
000127785 700__ $$aShalev, Stavit
000127785 700__ $$aSiu, Victoria
000127785 700__ $$aSmith, Rosemarie
000127785 700__ $$aStevens, Cathy
000127785 700__ $$aTkemaladze, Tinatin
000127785 700__ $$aToimie, John
000127785 700__ $$aToriello, Helga
000127785 700__ $$aTurner, Anne
000127785 700__ $$aWheeler, Patricia G.
000127785 700__ $$aWhite, Susan M.
000127785 700__ $$aYoung, Terri
000127785 700__ $$aLoomes, Kathleen M.
000127785 700__ $$aPipan, Mary
000127785 700__ $$aHarrington, Ann Tokay
000127785 700__ $$aZackai, Elaine
000127785 700__ $$aRajagopalan, Ramakrishnan
000127785 700__ $$aConlin, Laura
000127785 700__ $$aDeardorff, Matthew A.
000127785 700__ $$aMcEldrew, Deborah
000127785 700__ $$0(orcid)0000-0003-3203-6254$$aPie, Juan$$uUniversidad de Zaragoza
000127785 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano$$uUniversidad de Zaragoza
000127785 700__ $$aMusio, Antonio
000127785 700__ $$aKline, Antonie D.
000127785 700__ $$aIzumi, Kosuke
000127785 700__ $$aRaible, Sarah E.
000127785 700__ $$aKrantz, Ian D.
000127785 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000127785 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000127785 773__ $$g191, 8 (2023), 2113-2131$$pAm. J. Med. Genet. A$$tAmerican Journal of Medical Genetics, Part A$$x1552-4825
000127785 8564_ $$s7287242$$uhttps://zaguan.unizar.es/record/127785/files/texto_completo.pdf$$yPostprint
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000127785 951__ $$a2024-11-22-12:03:42
000127785 980__ $$aARTICLE