Associated Papers
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
Liu H et al.
Molecular Genetics & Genomic Medicine, 2021
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N et al.
Clinical Genetics, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4
In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ).
Kumar A et al.
Febs Open Bio, 2012
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