Top 20 of Genetic Diseases, X-Linked

Article title # Publications/# Citations

A critical role for IL-21 in regulating immunoglobulin production.

2002: JCheng; CGFeng; WJLeonard; CLiu; HCMorse; KOzaki; CFQi; PLSchwartzberg; ASher; RSpolski;

189

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development.

2006: PdeRoos; MAGavin; PDGreenberg; WYHo; EHouston; ELOcheltree; HDOchs; AYRudensky; AStray-Pedersen; TRTorgerson;

157

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.

2003: MJEcons; GHampson; YImanishi; KBJonsson; HJüppner; HKoshiyama; TLarsson; JLavigne; ... ÖLjunggren; AMiyauchi; KOba; TSugimoto; KEWhite; TYamamoto; IMYang; RZahradnik;

126

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.

2004 Dec 18-31: AAl Ghonaium; RRAli; TBarington; GBrouns; HOChristensen; HBGaspar; KCGilmour; SHowe; ... MAJakobsen; DKing; CKinnon; RJLevinsky; KLParsley; MSchmidt; JSinclair; JLSmith; AJThrasher; Cvon Kalle; HNWhite;

120

Evolution on the X chromosome: unusual patterns and processes.

2006: BCharlesworth; BVicoso;

117

Diagnostic exome sequencing in persons with severe intellectual disability.

2012: HGBrunner; Jde Ligt; BBde Vries; Pde Vries; Mdel Rosario; CGilissen; AHoischen; TKleefstra; ... DAKoolen; TKroes; HScheffer; BWvan Bon; JAVeltman; LEVissers; ATVulto-van Silfhout; MHWillemsen; HGYntema;

102

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.

2003: EGambineri; HDOchs; TRTorgerson;

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Regulation of NKT cell development by SAP, the protein defective in XLP.

2005: JLCannons; AGanguly; SYGong; JHom; GAKoretzky; CSMa; KENichols; PLSchwartzberg; PLStein; SGTangye;

100

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

2006: MLFocarelli; CGervasini; LLarizza; DMilani; AMusio; SRusso; ASelicorni; PVezzoni;

93

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases.

2003: ASKondrashov;

87

Role of cardiolipin alterations in mitochondrial dysfunction and disease.

2006: AJChicco; GCSparagna;

86

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.

2005: CBloch-Queyrat; Gde Saint-Basile; AFischer; MCFondanèche; NLambert; SLatour; BPasquier; FRelouzat; LYin;

85

The battered-child syndrome.

1962: WDroegemueller; CHKempe; HKSilver; FNSilverman; BFSteele;

82

Mobile interspersed repeats are major structural variants in the human genome.

2010: JDBoeke; KHBurns; CICivin; CRHuang; HJi; YLu; TNiranjan; MARobinson; ... AMSchneider; PShen; JPSteranka; DValle; TWang; SJWheelan;

79

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

2004 Oct 16-22: SBalkassmi; TGBarrett; HBiebermann; ECFriesema; AGrueters; APHalestrap; MHKester; JKoehrle; ... HKrude; GGKuiper; EEMancilla; MReeser; PRodien; JSvensson; AGUitterlinden; TJVisser; Avon Moers;

71

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

2006: SEAllan; CAzzari; RBacchetta; FDagna-Bricarelli; MDai; EGambineri; ALawitschka; MKLevings; ... SMatthes-Martin; LPasserini; LPerroni; MGRoncarolo; CSartirana; SFZiegler;

70

Barth syndrome, a human disorder of cardiolipin metabolism.

2006: MRen; MSchlame;

65

Epigenetic mechanisms of regulation of Foxp3 expression.

2009: JSBromberg; GLal;

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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

2004: MAmende; JChelly; JPFryns; JGecz; VGimmel; UGurok; BHamel; ARJanecke; ... LRJensen; VMKalscheuer; TKleefstra; SLenzner; CMoraine; BMoser; RReinhardt; HHRopers; GTariverdian; GTurner; ATzschach; HVan Esch;

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Protein glycosylation: chaperone mutation in Tn syndrome.

2005: RDCummings; TJu;

63