Lista de obras - Britt Drogemoller - Dominio Público Uruguay

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

artículo científico publicado en 2017

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

artículo científico publicado en 2020

Analyses of Adverse Drug Reactions-Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety Database

scientific article published on 19 November 2018

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.

artículo científico publicado en 2017

Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort.

artículo científico publicado en 2012

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines

artículo científico publicado en 2018

Characterization of the genetic profile of CYP2C19 in two South African populations.

artículo científico publicado en 2010

Characterization of the genetic variation present in CYP3A4 in three South African populations.

artículo científico publicado en 2013

Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis

artículo científico publicado en 2018

Considerations for rare variants in drug metabolism genes and the clinical implications

artículo científico publicado en 2014

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

artículo científico publicado en 2016

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

artículo científico publicado en 2015

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

scientific article published on 15 January 2019

Evaluation of predictiveCYP2C19genotyping assays relative to measured phenotype in a South African cohort

artículo científico publicado en 2015

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients

artículo científico publicado en 2018

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

artículo científico publicado en 2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

artículo científico publicado en 2018

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

artículo científico publicado en 2018

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis

artículo científico publicado en 2019

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

artículo científico publicado en 2017

Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study

artículo científico publicado en 2013

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

artículo científico publicado en 2019

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy

artículo científico publicado en 2015

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

artículo científico publicado en 2016

Next-generation sequencing of pharmacogenes

artículo científico publicado en 2013

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients

artículo científico publicado en 2014

Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation.

artículo científico publicado en 2011

Pharmacogenomics of Cisplatin-Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research

scientific article published on 12 June 2019

Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes.

artículo científico publicado en 2018

Psychiatric genetics in South Africa: cutting a rough diamond.

artículo científico publicado en 2011

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

artículo científico publicado en 2018

The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients.

artículo científico publicado en 2016

Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications.

artículo científico publicado en 2011

Whole-genome sequencing provides insight into the genetics of major depressive disorder.

artículo científico publicado en 2015

Lista de obras de Britt Drogemoller

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

Analyses of Adverse Drug Reactions-Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety Database

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.

Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort.

Atypical cerebral palsy: genomics analysis enables precision medicine

CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines

Characterization of the genetic profile of CYP2C19 in two South African populations.

Characterization of the genetic variation present in CYP3A4 in three South African populations.

Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis

Considerations for rare variants in drug metabolism genes and the clinical implications

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Evaluation of predictiveCYP2C19genotyping assays relative to measured phenotype in a South African cohort

Exome Sequencing and the Management of Neurometabolic Disorders.

Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Next-generation sequencing of pharmacogenes

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients

Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation.

Pharmacogenomics of Cisplatin-Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research

Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes.

Psychiatric genetics in South Africa: cutting a rough diamond.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients.

Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications.

Whole-genome sequencing provides insight into the genetics of major depressive disorder.