On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing (Q57455560)

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28 April 2020

title

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing (English)

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28 April 2020

1

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author name string

Maxime Cadieux-Dion

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28 April 2020

Emily Farrow

3

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Raymond Caylor

4

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28 April 2020

Neil Miller

5

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28 April 2020

Sarah Soden

6

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Carol Saunders

7

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language of work or name

English

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publication date

1 November 2018

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28 April 2020

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volume

39

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issue

11

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page(s)

1505-1516

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Cullin 3 as a novel target in diverse pathologies

28 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Cullin mediates degradation of RhoA through evolutionarily conserved BTB adaptors to control actin cytoskeleton structure and cell movement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Synaptic, transcriptional and chromatin genes disrupted in autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Parent-of-origin-specific signatures of de novo mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Low load for disruptive mutations in autism genes and their biased transmission

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

The human gene damage index as a gene-level approach to prioritizing exome variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Rate of de novo mutations and the importance of father's age to disease risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Copy number variants in people with autism spectrum disorders and co-morbid psychosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Dual testing strategy in autism increases diagnostic yield: Chromosomal microarray and whole-exome sequencing combination may be best for children with multiple physical anomalies, study suggests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

A framework for the interpretation of de novo mutation in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

De novo genic mutations among a Chinese autism spectrum disorder cohort.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23646

7 January 2021

Identifiers

DOI

10.1002/HUMU.23646

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30311385%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

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