Associated Papers
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Both_in_mother_and_child
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Boczek NJ et al.
Circulation. Cardiovascular Genetics, 2013
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