JAMES LUPSKI to Databases, Genetic
This is a "connection" page, showing publications JAMES LUPSKI has written about Databases, Genetic.
Connection Strength
1.563
-
Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 11; 185(11):3294-3313.
Score: 0.629
-
Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 06; 43(6):782-790.
Score: 0.164
-
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 08 18; 16(1):365.
Score: 0.157
-
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.111
-
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513.
Score: 0.105
-
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
Score: 0.089
-
Copy number variation at the breakpoint region of isochromosome 17q. Genome Res. 2008 Nov; 18(11):1724-32.
Score: 0.064
-
Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6.
Score: 0.056
-
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20.
Score: 0.049
-
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.035
-
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.033
-
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.032
-
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.025
-
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902.
Score: 0.014