Top 20 of Congenital Abnormalities

Article title # Publications/# Citations

Global, regional, and national causes of child mortality: an updated systematic analysis for 2010 with time trends since 2000.

2012: Child Health Epidemiology Reference Group of WHO and UNICEF; REBlack; HCampbell; RCibulskis; SCousens; HLJohnson; JELawn; MLi; ... LLiu; CMathers; JPerin; IRudan; SScott;

302

Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice.

2003: FWAlt; EAppella; RBronson; HLCheng; KFChua; YGu; JPManis; RMostoslavsky; PPatel; SSaito;

250

Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation.

1992: AECzeizel; IDudaş;

230

The contribution of low birth weight to infant mortality and childhood morbidity.

1985: MCMcCormick;

210

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination.

1998: MLewandoski; GRMartin; ENMeyers;

208

Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects.

2004: RTBronson; SChang; DCrowley; RADePinho; RGrochow; SRHingorani; HHock; TJacks; ... ELJackson; MAJacobetz; CKing; KLMercer; SHOrkin; ATShaw; DPSilver; DATuveson; LWang; NAWillis; TZaks;

203

A copy number variation morbidity map of developmental delay.

2011: HAbdel-Hamid; NAlexander; PBader; CBaker; BCBallif; BPCoe; GMCooper; EEEichler; ... SGirirajan; JGorski; RHamid; VHannig; MHummel; KJohnson; JKussmann; KLeppig; EMcCracken; DNiyazov; CRehder; JARosenfeld; LGShaffer; VShashi; HStalker; HThiese; THVu; CWilliams;

170

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

2010: MPAdam; SAradhya; LGBiesecker; ARBrothman; NPCarter; DMChurch; JACrolla; EEEichler; ... CJEpstein; WAFaucett; LFeuk; JMFriedman; AHamosh; LJackson; EBKaminsky; KKok; IDKrantz; RMKuhn; DHLedbetter; CLee; CLMartin; DTMiller; JMOstell; CRosenberg; SWScherer; NBSpinner; DJStavropoulos; JHTepperberg; ECThorland; JRVermeesch; DJWaggoner; MSWatson;

169

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

2008: SEAntonarakis; LArmengol; CBaker; DBaralle; JCBarber; FBena; EMBongers; ABroomer; ... KBuysse; ICasuga; CChen; JClayton-Smith; ACollins; BConrad; ACoppola; JACrolla; ADe Coene; Nde Leeuw; TDe Ravel; BBde Vries; KDevriendt; EEEichler; XEstivill; MFichera; HVFirth; LGallagher; SGallati; LGaunt; MGill; GGimelli; SGimelli; LGoossens; SGribble; RCHennekam; RHochstenbach; SHuang; AItsara; ZJiang; MCKing; SJKnight; KELi; CLilley; MLo Giudice; AMale; VKMaloney; JMcClellan; HCMefford; SGMehta; BMenten; CMercer; GMortier; MRNelen; SNik-Zainal; KNorga; SMPark; GParkin; MPoot; LRäber; WReardon; RRegan; SReitano; CRomano; CESchwartz; SSchwartz; MSchwerzmann; JSebat; AJSharp; ISimonic; CSkinner; FSpeleman; YSpysschaert; REStevenson; PStriano; JSSutcliffe; MTassabehji; ESTobias; JLTolmie; Evan Binsbergen; JAVeltman; PVerloo; JRVermeesch; TWalsh; LWillatt; CGWoods;

165

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

1993: RCarrozzo; CTCaskey; WBDobyns; FFaustinella; DHLedbetter; OReiner; YShen; MWehnert;

160

Pattern of malformation in offspring of chronic alcoholic mothers.

1973: KLJones; DWSmith; PStreissguth; CNUlleland;

143

Thrombospondin-1 is required for normal murine pulmonary homeostasis and its absence causes pneumonia.

1998: MDuquette; ELGeorge; ROHynes; JLawler; HRayburn; MSunday; VThibert;

121

The Medical Birth Registry of Norway. Epidemiological research and surveillance throughout 30 years.

2000: LMIrgens;

114

Identification of Hedgehog pathway components by RNAi in Drosophila cultured cells.

2003: PABeachy; LLum; BMozer; MNirenberg; ARovescalli; DVon Kessler; SYao;

108

A case-control family history study of autism.

1994: ABailey; PBolton; MCrowson; SGoode; HMacDonald; APickles; PRios; MRutter;

99

The origin of human aneuploidy: where we have been, where we are going.

2007: HHall; THassold; PHunt;

99

Epigenetic instability in ES cells and cloned mice.

2001: HAkutsu; DBiniszkiewicz; KEggan; KHochedlinger; DHumpherys; RJaenisch; WMRideout; RYanagimachi;

93

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.

2000: LDBotto; QYang;

92

The National Birth Defects Prevention Study.

2001: MAnderka; SLCarmichael; PCosta; CDruschel; LDEdmonds; CAHobbs; PHLanglois; MCLynberg; ... CAMoore; SARasmussen; PARomitti; PWYoon;

92

Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase.

1998: CBirchmeier; EGherardi;

87