4.8 Article

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee et al.

GENETICS IN MEDICINE (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Correction Genetics & Heredity

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease (vol 104, pg 466, 2019)

Hernan D. Gonorazky et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Review Clinical Neurology

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

Christine Le et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2019)

Article Genetics & Heredity

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

Kalotina Machini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Laure Fresard et al.

NATURE MEDICINE (2019)

Article Genetics & Heredity

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Yanrui Jiang et al.

BMC MEDICAL GENETICS (2019)

Article Biochemistry & Molecular Biology

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan et al.

Article Medicine, General & Internal

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

Rachid Karam et al.

JAMA NETWORK OPEN (2019)

Article Genetics & Heredity

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston et al.

GENETICS IN MEDICINE (2018)

Article Genetics & Heredity

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

Felix Brechtmann et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

Nicole J. Boczek et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Medicine, General & Internal

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

K. Splinter et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Biotechnology & Applied Microbiology

RNA virus interference via CRISPR/Cas13a system in plants

Rashid Aman et al.

GENOME BIOLOGY (2018)

Article Cell Biology

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings et al.

SCIENCE TRANSLATIONAL MEDICINE (2017)

Article Multidisciplinary Sciences

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer et al.

NATURE COMMUNICATIONS (2017)

Article Mathematical & Computational Biology

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

Simon Fishilevich et al.

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2017)

Article Genetics & Heredity

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

Mathieu Quinodoz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Oncology

Variant Review with the Integrative Genomics Viewer

James T. Robinson et al.

CANCER RESEARCH (2017)

Article Biochemistry & Molecular Biology

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey et al.

GENETICS IN MEDICINE (2016)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Genetics & Heredity

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

Joseph DeMari et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Medicine, General & Internal

ClinGen - The Clinical Genome Resource

Heidi L. Rehm et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Biochemistry & Molecular Biology

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna S. Amberger et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Biochemistry & Molecular Biology

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Tracy Tucker et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Medicine, General & Internal

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Editorial Material Genetics & Heredity

The Genotype-Tissue Expression (GTEx) project

John Lonsdale et al.

NATURE GENETICS (2013)

Article Biochemical Research Methods

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

Bo Li et al.

BMC BIOINFORMATICS (2011)

Article Genetics & Heredity

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

VM Kalscheuer et al.

NATURE GENETICS (2003)