Concepedia

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen,

The American Journal of Human Genetics · 2019 · 85 citations · 31 references

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31

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Da Wei Huang, Brad T. Sherman, Richard A. Lempicki · Nature Protocols · 2008 · 37.4K citations

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Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

Da Wei Huang, Brad T. Sherman, Richard A. Lempicki · Nucleic Acids Research · 2008 · 14.7K citations · Full text

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles

Aravind Subramanian, Rajiv Narayan, Steven M. Corsello et al. · Cell · 2017 · 3.7K citations · Full text

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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