about
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel diseaseMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeGerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginGenome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility lociGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsMutations in HPSE2 cause urofacial syndromeGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A regionThe clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic reviewThe impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune DiseasesLRIG2 mutations cause urofacial syndromeTPMT testing in rheumatology: any better than routine monitoring?A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's diseaseMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisA clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.The Impact of CYP2D6 Genotyping on Tamoxifen TreatmentReplication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease.Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom.Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.Pernicious anemia - genetic insights.Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencyExtended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.G6PC3 mutations cause non-syndromic severe congenital neutropenia.Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and SpainThe genetic basis of DOORS syndrome: an exome-sequencing studyA prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours.Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Delivery of a clinical genomics serviceSkeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification.Urinary tract effects of HPSE2 mutations.Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosisCommon variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeFine-mapping CASP8 risk variants in breast cancer.Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events
P50
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P50
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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Newman WG
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William Newman
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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William G. Newman
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P106
P1153
12808048500
P21
P31
P496
0000-0002-6382-4678