Concepedia

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Zheng Wang, Eva Horemuzova, Aritoshi Iida, Long Guo, Ying Liu, Naomichi Matsumoto, Gen Nishimura, Ann Nordgren, Noriko Miyake, Emma Tham,

Journal of Human Genetics · 2017 · 37 citations · 16 references

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16

Clustal W and Clustal X version 2.0

Mark Larkin, Gordon Blackshields, Nigel P. Brown et al. · Bioinformatics · 2007 · 29.1K citations · Full text

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 565 citations

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Christian T. Thiel, Kristin Kessler, Arno Dimmler et al. · The American Journal of Human Genetics · 2011 · 184 citations · Full text

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