| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
Genet Med
|
2013
|
22.73
|
|
2
|
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
|
Genet Med
|
2012
|
4.04
|
|
3
|
Human chromosome 7: DNA sequence and biology.
|
Science
|
2003
|
3.02
|
|
4
|
Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns.
|
J Clin Psychiatry
|
2005
|
2.46
|
|
5
|
Neurofibromatosis type 1.
|
J Am Acad Dermatol
|
2009
|
2.41
|
|
6
|
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.
|
Genet Med
|
2002
|
2.39
|
|
7
|
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
|
Am J Hum Genet
|
2008
|
2.06
|
|
8
|
Future health applications of genomics: priorities for communication, behavioral, and social sciences research.
|
Am J Prev Med
|
2010
|
1.98
|
|
9
|
Pathophysiology of neurofibromatosis type 1.
|
Ann Intern Med
|
2006
|
1.81
|
|
10
|
Deletion of the SLUG (SNAI2) gene results in human piebaldism.
|
Am J Med Genet A
|
2003
|
1.72
|
|
11
|
Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.
|
Neuro Oncol
|
2014
|
1.66
|
|
12
|
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
|
Am J Med Genet A
|
2011
|
1.46
|
|
13
|
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
|
Am J Med Genet A
|
2010
|
1.36
|
|
14
|
The case for strategic international alliances to harness nutritional genomics for public and personal health.
|
Br J Nutr
|
2005
|
1.24
|
|
15
|
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
|
Am J Med Genet A
|
2011
|
1.24
|
|
16
|
Competencies for the physician medical geneticist in the 21st century.
|
Genet Med
|
2011
|
1.21
|
|
17
|
Genetic testing in cardiovascular disease.
|
J Am Coll Cardiol
|
2007
|
1.10
|
|
18
|
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
|
Am J Hum Genet
|
2007
|
1.06
|
|
19
|
Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases.
|
Am J Med Genet A
|
2006
|
1.00
|
|
20
|
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.
|
Am J Med Genet A
|
2003
|
0.96
|
|
21
|
Developing a national collaborative study system for rare genetic diseases.
|
Genet Med
|
2008
|
0.95
|
|
22
|
Recommendations for imaging tumor response in neurofibromatosis clinical trials.
|
Neurology
|
2013
|
0.92
|
|
23
|
Optimizing biologically targeted clinical trials for neurofibromatosis.
|
Expert Opin Investig Drugs
|
2013
|
0.88
|
|
24
|
Anaesthetic management of children with tuberous sclerosis.
|
Paediatr Anaesth
|
2002
|
0.86
|
|
25
|
Outline of a medical genetics curriculum for internal medicine residency training programs.
|
Genet Med
|
2004
|
0.85
|
|
26
|
Back to the future: proceedings from the 2010 NF Conference.
|
Am J Med Genet A
|
2010
|
0.84
|
|
27
|
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
|
J Am Acad Dermatol
|
2010
|
0.82
|
|
28
|
The medical genetics residency milestones.
|
J Grad Med Educ
|
2014
|
0.81
|
|
29
|
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
|
Am J Med Genet A
|
2014
|
0.81
|
|
30
|
Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.
|
Med Princ Pract
|
2008
|
0.79
|
|
31
|
Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?
|
N Engl J Med
|
2014
|
0.79
|
|
32
|
AsktheGeneticist: five years of online experience.
|
Genet Med
|
2009
|
0.77
|
|
33
|
Overview of molecular genetic diagnosis.
|
Curr Protoc Hum Genet
|
2013
|
0.76
|
|
34
|
Genetics in medical practice: the need for ultimate makeover.
|
Genet Med
|
2005
|
0.75
|
|
35
|
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
|
Genet Med
|
2003
|
0.75
|
|
36
|
Biochemical genetics. Introduction.
|
Curr Protoc Hum Genet
|
2012
|
0.75
|
|
37
|
Genetics and medical practice: new approaches to "old" disorders.
|
Curr Opin Pediatr
|
2002
|
0.75
|
|
38
|
Case vignette: genetic secrets.
|
Ethics Behav
|
1992
|
0.75
|