Top 20 of Abnormalities, Multiple

Article title # Publications/# Citations

Exome sequencing identifies the cause of a mendelian disorder.

2009: MJBamshad; AWBigham; KJBuckingham; KMDent; CDHuff; EWJabs; CLee; SBNg; ... DANickerson; PTShannon; JShendure; HKTabor;

425

Altered neural cell fates and medulloblastoma in mouse patched mutants.

1997: LVGoodrich; KMHiggins; LMilenkovic; MPScott;

356

Autism as a strongly genetic disorder: evidence from a British twin study.

1995: ABailey; PBolton; IGottesman; ALe Couteur; MRutter; ESimonoff; EYuzda;

312

The combined functions of proapoptotic Bcl-2 family members bak and bax are essential for normal development of multiple tissues.

2000: DMAdelman; YChen; VMEng; GEvan; KFrauwirth; JAGolden; AKing; SJKorsmeyer; ... TLindsten; AMa; GRMacGregor; PMahar; JCRathmell; AJRoss; HAShiels; MCSimon; CBThompson; EUlrich; KGWaymire; MWei; WXZong;

288

Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis.

1992: ABradley; CYChang; KHerrup; NHu; CCLai; EYLee; WHLee; YCWang;

285

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

2010: MBamshad; RDrmanac; DJGalas; GGlusman; NGoodman; LHood; RHubley; CDHuff; ... LBJorde; KPPant; JCRoach; LRowen; PTShannon; JShendure; AFSmit;

247

TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.

1997: GPBoivin; ELCardell; TDoetschman; RFriedman; ACGittenberger-de Groot; IOrmsby; LPSanford; HSariola;

244

Requirement for a functional Rb-1 gene in murine development.

1992: ABerns; ARClarke; MLHooper; ERMaandag; HTe Riele; NMvan der Lugt; Mvan der Valk; Mvan Roon;

235

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

2010: MJBamshad; AEBeck; AWBigham; KJBuckingham; GMCooper; HIGildersleeve; MCHannibal; CLee; ... NMatsumoto; MJMcMillin; HCMefford; SBNg; DANickerson; NNiikawa; TOhta; MJRieder; JShendure; JDSmith; HKTabor; EHTurner; KYoshiura;

233

Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype.

1995: AADlugosz; LAHansen; RCHarris; KHerrup; CLaMantia; ULichti; TMourton; TTennenbaum; DWThreadgill; DYee;

231

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

2004: RBloise; KCondouris; NDecher; RMJoseph; MTKeating; PKumar; CNapolitano; SGPriori; ... MCSanguinetti; PJSchwartz; LMSharpe; ISplawski; HTager-Flusberg; KWTimothy;

220

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo.

1999: ABradley; SJones; APMcMahon; TPYamaguchi;

206

p73-deficient mice have neurological, pheromonal and inflammatory defects but lack spontaneous tumours.

2000: HBonnet; JBonnin; RBronson; DCaput; PDikkes; MKaghad; FMcKeon; MOosterwegel; ... ASharpe; CVagner; NWalker; AYang;

189

A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.

1974: RSChaganti; JGerman; SSchönberg;

185

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

2000: ADHR Consortium;

185

Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2.

2003: MLChen; WSChen; KGColeman; SECrawford; AHahn-Windgassen; NHay; JJacobs; XDPeng; ... JSkeen; DSundararajan; PZXu;

185

Embryonic retinoic acid synthesis is essential for early mouse post-implantation development.

1999: PChambon; PDollé; KNiederreither; VSubbarayan;

185

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.

2001: BGBruneau; SCaron; FCharron; DAConner; MGessler; GNemer; MNemer; LRobitaille; ... JPSchmitt; CESeidman; JGSeidman;

178

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.

2004: PBialek; SBrancorsini; AHanauer; SJacquot; GKarsenty; LLi; HCMasuoka; KMatsuda; ... PSassone-Corsi; TSchinke; TMTownes; XYang;

163

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

2004: RAdmiraal; HGBrunner; PJde Jong; BBde Vries; BCHamel; JAHurst; EHHuys; IMJanssen; ... EFSchoenmakers; WAvan der Vliet; AGvan Kessel; CMvan Ravenswaaij; JAVeltman; LEVissers;

160