Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

Clinical Trial ID NCT02927158

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Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Initial sequencing and analysis of the human genome.	Nature	2001	212.86
2	The sequence of the human genome.	Science	2001	101.55
3	Finishing the euchromatic sequence of the human genome.	Nature	2004	41.40
4	Sequencing technologies - the next generation.	Nat Rev Genet	2009	40.57
5	Exome sequencing identifies the cause of a mendelian disorder.	Nat Genet	2009	32.06
6	The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.	Genome Res	2009	14.90
7	Diagnostic exome sequencing in persons with severe intellectual disability.	N Engl J Med	2012	10.80
8	Genetic variation in an individual human exome.	PLoS Genet	2008	6.68
9	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.	Sci Transl Med	2012	5.16
10	Revisiting Mendelian disorders through exome sequencing.	Hum Genet	2011	2.57
11	Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.	Hum Mol Genet	2010	2.19
12	The promise of whole-exome sequencing in medical genetics.	J Hum Genet	2013	1.95
13	Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.	Am J Med Genet C Semin Med Genet	2003	1.78
14	The promise and challenges of next-generation genome sequencing for clinical care.	JAMA Intern Med	2014	1.38
15	Genetics, medicine, and the Plain people.	Annu Rev Genomics Hum Genet	2009	1.24
16	Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.	Am J Med Genet C Semin Med Genet	2003	1.12
17	Medical genetic studies in the Amish: historical perspective.	Am J Med Genet C Semin Med Genet	2003	0.99
18	Amish, mennonite, and hutterite genetic disorder database.	Paediatr Child Health	2011	0.84