SNP information rs17158558

Research and publications:

  7647787   Loss of function effect of RET mutations causing Hirschsprung disease.

  7881414   Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

  9760196   Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

  12566528   Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.

  14566559   Molecular analysis of congenital central hypoventilation syndrome.

  21655256   RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

  21995290   Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  22729463   Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.

  22837065   Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.

  22995991   An informatics approach to analyzing the incidentalome.

  23084198   Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.

  23527089   Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  25103625   Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26437850   Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

  28594148   Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.

  30409984   Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

  32971818   Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.