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Human Mutation
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Wiley (John Wiley & Sons)
Homepage URLs
Example Publications
PatientMatcher: a customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt‐Robinson, Anna Wedell, Lindstrand A, Valtteri Wirta, Henrik Stranneheim
2022
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Human Mutation
doi:10.1002/humu.24358 pmcid:PMC9311682
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm
Toyofumi Fujiwara, Jae‐Moon Shin, Atsuko Yamaguchi
2022
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Human Mutation
doi:10.1002/humu.24341
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher
Meghan Towne, Mari Rossi, Bess Wayburn, Jennifer M. Huang, Kelly Radtke, Wendy Alcaraz, Kelly D. Farwell Hagman, Deepali N. Shinde
2022
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Human Mutation
doi:10.1002/humu.24342 pmcid:PMC9313781
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
Ralph Mazijk, Annechien Haarman, Lies H. Hoefsloot, Jan Roelof Polling, Marianne Tienhoven, Caroline C.W. Klaver, Virginie J.M. Verhoeven, Sjoukje E. Loudon, Alberta A.H.J. Thiadens, Anneke J.A. Kievit
2022
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Human Mutation
doi:10.1002/humu.24327 pmcid:PMC9303208
7,406
Known Releases
Preservation Summary [more]
| 1,452 | preserved and accessble (bright) | |
| 5,954 | preserved, inaccessible (dark) | |
| 0 | no known preservation |
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