Associated Papers
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP et al.
European Journal of Human Genetics : Ejhg, 2017
28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Di Zanni E et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
MECP2 duplication in a patient with congenital central hypoventilation.
Belligni EF et al.
American Journal of Medical Genetics. Part A, 2010
Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.
Serra A et al.
Journal of Pediatric Hematology/oncology, 2008
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
Raabe EH et al.
Oncogene, 2008
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