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Author Details

Robert Huether
Division of Clinical Genomics
2005
45
27
PMIDPaper TitleJournal TitlePublished Year
36349721Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.Br J Haematol2023
36349721Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.Br J Haematol2023
33300245Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Hum Mutat2021
33446413Real-world Evidence of Diagnostic Testing and Treatment Patterns in US Patients With Breast Cancer With Implications for Treatment Biomarkers From RNA Sequencing Data.Clin Breast Cancer2021
33300245Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Hum Mutat2021
33446413Real-world Evidence of Diagnostic Testing and Treatment Patterns in US Patients With Breast Cancer With Implications for Treatment Biomarkers From RNA Sequencing Data.Clin Breast Cancer2021
32196822Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.Hum Mutat2020
32196822Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.Hum Mutat2020
32108894Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.JAMA Netw Open2020
32108894Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.JAMA Netw Open2020
30608580Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.Hum Mol Genet2019
31570899Integrated genomic profiling expands clinical options for patients with cancer.Nat Biotechnol2019
30608580Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.Hum Mol Genet2019
30128536Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.JAMA Oncol2019
31040929Clinical validation of the tempus xT next-generation targeted oncology sequencing assay.Oncotarget2019
30128536Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.JAMA Oncol2019
31570899Integrated genomic profiling expands clinical options for patients with cancer.Nat Biotechnol2019
31040929Clinical validation of the tempus xT next-generation targeted oncology sequencing assay.Oncotarget2019
28881385Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Clin Genet2018
28881385Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Clin Genet2018
30311380Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.Hum Mutat2018
29899824Clinical validation of the Tempus xO assay.Oncotarget2018
29489755Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.Nature2018
29388939Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genet Med2018
29251763De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.Clin Genet2018
29899824Clinical validation of the Tempus xO assay.Oncotarget2018
30311380Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.Hum Mutat2018
29388939Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genet Med2018
29489755Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.Nature2018
29251763De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.Clin Genet2018
27513193Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genet Med2017
28418444Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol2017
28667181<i>DNM1</i> encephalopathy: A new disease of vesicle fission.Neurology2017
27513193Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genet Med2017
27598823Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Clin Genet2017
28418444Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol2017
28667181<i>DNM1</i> encephalopathy: A new disease of vesicle fission.Neurology2017
27598823Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Clin Genet2017
27543892A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.Ann Neurol2016
27352968Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet2016
27798625The genomic landscape of core-binding factor acute myeloid leukemias.Nat Genet2016
27822389Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.Int J Breast Cancer2016
27543892A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.Ann Neurol2016
27822389Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.Int J Breast Cancer2016
27798625The genomic landscape of core-binding factor acute myeloid leukemias.Nat Genet2016
27352968Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet2016
25730765The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.Nat Genet2015
25730765The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.Nat Genet2015
25855603PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia.Blood2015
27081547Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.Hum Genome Var2015
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