Family-based germline sequencing in children with cancer (Q57285766)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30305723%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

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23 July 2020

25 September 2020

8 February 2021

Family-based germline sequencing in children with cancer (English)

1 reference

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genetic predisposition to disease

27 April 2020

main subject

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23 July 2020

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25 September 2020

1 reference

8 February 2021

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27 April 2020

Arndt Borkhardt

6

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27 April 2020

author name string

Julia Taeubner

2

1 reference

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27 April 2020

Triantafyllia Brozou

3

1 reference

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27 April 2020

Dagmar Wieczorek

4

1 reference

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27 April 2020

Reiner Siebert

5

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27 April 2020

language of work or name

English

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publication date

10 October 2018

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27 April 2020

1 February 2019

4 references

23 July 2020

10 September 2020

25 September 2020

8 February 2021

5 references

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27 April 2020

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8 February 2021

38

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27 April 2020

issue

9

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27 April 2020

page(s)

1367-1380

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Creative Commons Attribution

27 April 2020

copyright license

3 references

23 July 2020

25 September 2020

8 February 2021

0 references

Infection Exposure is a Causal Factor in B-cell Precursor Acute Lymphoblastic Leukemia as a Result of Pax5-Inherited Susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline Mutations in Predisposition Genes in Pediatric Cancer

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline Mutations in Predisposition Genes in Pediatric Cancer.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Understanding TERT Promoter Mutations: A Common Path to Immortality.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

POT1 loss-of-function variants predispose to familial melanoma

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline mutations in shelterin complex genes are associated with familial glioma

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Identification, management, and evaluation of children with cancer-predisposition syndromes

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Highly penetrant hereditary cancer syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta-analysis.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Li-Fraumeni syndrome: cancer risk assessment and clinical management

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Trio sequencing in pediatric cancer and clinical implications.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Paired-end mapping reveals extensive structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Monogenic and polygenic determinants of sarcoma risk: an international genetic study

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

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/10.1038%2FS41388-018-0520-9

7 January 2021

Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Edgetic perturbation models of human inherited disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Properties and rates of germline mutations in humans

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

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/10.1038%2FS41388-018-0520-9

7 January 2021

New insights into the generation and role of de novo mutations in health and disease

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

The origins, patterns and implications of human spontaneous mutation

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

The distribution of fitness effects of new mutations

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

De novo mutations in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Parental age and risk of pediatric cancer in the offspring: a population-based record-linkage study in California

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Variation in genome-wide mutation rates within and between human families

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Parental age and risk of childhood cancer: a pooled analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Mortality rates after cataract extraction

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

1 reference

7 January 2021

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Genome sequencing identifies major causes of severe intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Role in tumorigenesis of silent mutations in the TP53 gene.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Hearing silence: non-neutral evolution at synonymous sites in mammals

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Understanding the contribution of synonymous mutations to human disease

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Role of 3'-untranslated region translational control in cancer development, diagnostics and treatment

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

A germline mutation in the BRCA1 3'UTR predicts Stage IV breast cancer

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Telomerase reverse transcriptase promoter alterations across cancer types as detected by next-generation sequencing: A clinical and molecular analysis of 423 patients

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Uniparental disomy and human disease: an overview.

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Complex and segmental uniparental disomy updated

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Genome-wide patterns and properties of de novo mutations in humans

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

De Novo Gene Disruptions in Children on the Autistic Spectrum

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Characteristics of de novo structural changes in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Timing, rates and spectra of human germline mutation

1 reference

https://api.crossref.org/works/10.1038%2FS41388-018-0520-9

7 January 2021

Parental age as a risk factor of childhood leukemia and brain cancer in offspring

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30305723

12 December 2020

inferred from PubMed ID database lookup

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30305723

12 December 2020

inferred from PubMed ID database lookup

Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30305723

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41388-018-0520-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30305723%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30305723%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

PubMed publication ID

30305723

1 reference