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1.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Article
in English
| MEDLINE | ID: mdl-30420557
2.
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Genet Med
; 20(11): 1328-1333, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29565419
3.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
BMC Med Genomics
; 13(1): 103, 2020 07 17.
Article
in English
| MEDLINE | ID: mdl-32680510
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