2012
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.Peer-Reviewed Original ResearchConceptsGenome analysisGenetic basisCancer phenotypeWhole exome captureNovel mutationsGenomic analysisPhenotype annotationsPhenotype diversityParallel sequencingHomozygosity mappingT-cell acute lymphoblastic lymphomaGenetic modifiersNovel insightsGene sequencingGaucher diseaseMalignancy phenotypeMutationsLysosomal accumulationPhenotypeHomozygous novel mutationPathogenic mutationsGenesMSH6 proteinsSequencingEnzyme studies
2000
Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature
Johnston L, Pashankar F, Camacho‐Hübner C, Savage M, Clark A. Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature. Clinical Endocrinology 2000, 52: 463-469. PMID: 10762289, DOI: 10.1046/j.1365-2265.2000.00940.x.Peer-Reviewed Original ResearchConceptsGrowth hormone insensitivityIdiopathic short staturePartial growth hormone insensitivityGrowth hormone receptorHormone insensitivityShort statureSerum IGF-I levelsHormone receptorsShort stature subjectsIGF-I levelsGH provocation testsProvocation testExon 9GH deficiencyControl populationCodon 325Protein levelsAmino acid changesPatientsHuman growth hormone receptorCentileDominant-negative variantChildrenSubjectsDominant negative mutation