Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
Data up to Jan 2025
Total Citations Per Year
Abstract
References (22)
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
2001 • 3,369 citations
The human disease network
2007 • 3,104 citations
Next-Generation DNA Sequencing Methods
2008 • 2,236 citations
Targeted capture and massively parallel sequencing of 12 human exomes
2009 • 1,986 citations
Exome sequencing identifies the cause of a mendelian disorder
2009 • 1,909 citations
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
2003 • 1,522 citations
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
2009 • 1,295 citations
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
2009 • 718 citations
McKusick's Online Mendelian Inheritance in Man (OMIM(R))
2008 • 674 citations
Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2
1997 • 474 citations
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
2005 • 346 citations
Mendelian disorders deserve more attention
2006 • 235 citations
New Perspectives for the Elucidation of Genetic Disorders
2007 • 126 citations
Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway
2009 • 91 citations
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
2008 • 90 citations
La metachondromatose
1971 • 38 citations
Metachondromatosis. Report of four cases.
1985 • 35 citations
EXT‐related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis
2006 • 35 citations
Metachondromatosis.
1983 • 21 citations
[Metachondromatosis].
1971 • 11 citations
Metachondromatosis: REPORT OF A CASE IN A 6 YEAR OLD BOY
1975 • 10 citations
Metachondromatosis.
1974 • 5 citations