Concepedia

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

B. O. Choi, M.‐H. Park, Ki Wha Chung, Hae-Mi Woo, Heasoo Koo, Hwa Kyung Chung, Kyoung‐Gyu Choi, K. D. Park, Hakjoon Lee, Soo Kyung Koo

Neurogenetics · 2012 · 28 citations · 17 references

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References

17

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

, , +17

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

, , +15

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

, , +8

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

, , +17

THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

A E Harding, P. K. Thomas · Brain · 1980 · 829 citations

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