| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Strong association of de novo copy number mutations with autism.
|
Science
|
2007
|
27.84
|
|
2
|
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons.
|
Science
|
2008
|
14.26
|
|
3
|
Gene expression patterns in blood leukocytes discriminate patients with acute infections.
|
Blood
|
2006
|
5.05
|
|
4
|
Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade.
|
J Exp Med
|
2007
|
3.51
|
|
5
|
Outcomes of congenital diaphragmatic hernia in the modern era of management.
|
J Pediatr
|
2013
|
1.80
|
|
6
|
Attitudes and practices among internists concerning genetic testing.
|
J Genet Couns
|
2012
|
1.75
|
|
7
|
Return of secondary genomic findings vs patient autonomy: implications for medical care.
|
JAMA
|
2013
|
1.60
|
|
8
|
Ebola virus disease cluster in the United States--Dallas County, Texas, 2014.
|
MMWR Morb Mortal Wkly Rep
|
2014
|
1.49
|
|
9
|
Epidemiologic investigation of a 2007 outbreak of Serratia marcescens bloodstream infection in Texas caused by contamination of syringes prefilled with heparin and saline.
|
Infect Control Hosp Epidemiol
|
2009
|
1.41
|
|
10
|
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
|
Breast Cancer Res Treat
|
2008
|
1.40
|
|
11
|
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.
|
Circ Res
|
2013
|
1.35
|
|
12
|
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
|
Arch Neurol
|
2011
|
1.32
|
|
13
|
Analysis of significance patterns identifies ubiquitous and disease-specific gene-expression signatures in patient peripheral blood leukocytes.
|
Ann N Y Acad Sci
|
2005
|
1.28
|
|
14
|
Disclosures of Huntington disease risk within families: patterns of decision-making and implications.
|
Am J Med Genet A
|
2007
|
1.28
|
|
15
|
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
PLoS One
|
2007
|
1.26
|
|
16
|
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
|
Breast Cancer Res
|
2011
|
1.22
|
|
17
|
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.
|
Diabetes
|
2013
|
1.19
|
|
18
|
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.
|
Genet Med
|
2005
|
1.15
|
|
19
|
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
|
Hum Genet
|
2013
|
1.15
|
|
20
|
Decision-making about reproductive choices among individuals at-risk for Huntington's disease.
|
J Genet Couns
|
2007
|
1.11
|
|
21
|
The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication.
|
Am J Med Genet A
|
2010
|
1.03
|
|
22
|
Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training.
|
J Genet Couns
|
2013
|
1.03
|
|
23
|
Effectiveness of a school district closure for pandemic influenza A (H1N1) on acute respiratory illnesses in the community: a natural experiment.
|
Clin Infect Dis
|
2012
|
0.97
|
|
24
|
Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry.
|
Nucleic Acids Res
|
2002
|
0.94
|
|
25
|
Incidental findings in the era of whole genome sequencing?
|
Hastings Cent Rep
|
2013
|
0.93
|
|
26
|
Microcomputed tomography provides high accuracy congenital heart disease diagnosis in neonatal and fetal mice.
|
Circ Cardiovasc Imaging
|
2013
|
0.92
|
|
27
|
A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance.
|
Cardiovasc Res
|
2007
|
0.92
|
|
28
|
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
Hum Mutat
|
2004
|
0.92
|
|
29
|
Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda.
|
Reprod Biomed Online
|
2008
|
0.89
|
|
30
|
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
|
Cancer Epidemiol Biomarkers Prev
|
2012
|
0.89
|
|
31
|
Prompt control of an outbreak caused by extended-spectrum β-lactamase-producing Klebsiella pneumoniae in a neonatal intensive care unit.
|
J Pediatr
|
2013
|
0.86
|
|
32
|
Views of internists towards uses of PGD.
|
Reprod Biomed Online
|
2012
|
0.86
|
|
33
|
Preimplantation genetic diagnosis on in vitro fertilization clinic websites: presentations of risks, benefits and other information.
|
Fertil Steril
|
2008
|
0.84
|
|
34
|
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
Pediatr Neurol
|
2013
|
0.84
|
|
35
|
Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.
|
Breast Cancer Res Treat
|
2015
|
0.78
|
|
36
|
Association of a Best-Practice Alert and Prenatal Administration With Tetanus Toxoid, Reduced Diphtheria Toxoid, and Acellular Pertussis Vaccination Rates.
|
Obstet Gynecol
|
2015
|
0.77
|
|
37
|
The authors reply.
|
Hastings Cent Rep
|
2015
|
0.75
|
|
38
|
Review of school closure as a pandemic mitigation strategy.
|
Tex Med
|
2009
|
0.75
|
|
39
|
Corrigendum: MC4R-dependent suppression of appetite by bone-derived lipocalin 2.
|
Nature
|
2017
|
0.75
|