Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics
Published 2020 View Full Article
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Title
Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics
Authors
Keywords
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Journal
MOLECULAR MEDICINE
Volume 26, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-11-25
DOI
10.1186/s10020-020-00244-5
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Note: Only part of the references are listed.- Identification of functional regulatory elements in the human genome using pooled CRISPR screens
- (2020) Samantha M. Borys et al. BMC GENOMICS
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens
- (2019) Molly Gasperini et al. CELL
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- (2019) Stéphanie Nguengang Wakap et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Search-and-replace genome editing without double-strand breaks or donor DNA
- (2019) Andrew V. Anzalone et al. NATURE
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment
- (2018) Ana Fernandez-Marmiesse et al. CURRENT MEDICINAL CHEMISTRY
- A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
- (2018) Rocky Cheung et al. MOLECULAR CELL
- Predictable and precise template-free CRISPR editing of pathogenic variants
- (2018) Max W. Shen et al. NATURE
- Optimized libraries for CRISPR-Cas9 genetic screens with multiple modalities
- (2018) Kendall R. Sanson et al. Nature Communications
- Pathogenic variants that alter protein code often disrupt splicing
- (2017) Rachel Soemedi et al. NATURE GENETICS
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey
- (2017) Susanne Blöß et al. PLoS One
- Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
- (2016) Jacob C. Ulirsch et al. CELL
- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2016) Ryan Tewhey et al. CELL
- Looking beyond the genes: the role of non-coding variants in human disease
- (2016) Malte Spielmann et al. HUMAN MOLECULAR GENETICS
- Functional genetic screens for enhancer elements in the human genome using CRISPR-Cas9
- (2016) Gozde Korkmaz et al. NATURE BIOTECHNOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
- (2014) Alexander Gusev et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The usefulness of whole-exome sequencing in routine clinical practice
- (2014) Alejandro Iglesias et al. GENETICS IN MEDICINE
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay
- (2013) P. Kheradpour et al. GENOME RESEARCH
- Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- (2013) Karine Poirier et al. NATURE GENETICS
- Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
- (2013) Ophir Shalem et al. SCIENCE
- Multiplex Genome Engineering Using CRISPR/Cas Systems
- (2013) L. Cong et al. SCIENCE
- Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
- (2012) Alexandre Melnikov et al. NATURE BIOTECHNOLOGY
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
- (2009) L. A. Hindorff et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Nescient Helix-Loop-Helix 2 Interacts with Signal Transducer and Activator of Transcription 3 to Regulate Transcription of Prohormone Convertase 1/3
- (2008) Dana L. Fox et al. MOLECULAR ENDOCRINOLOGY
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