Article

Functional genomics for curation of variants in telomere biology disorder associated genes, a systematic review

2022-07-06

Abstract excerpt

<h4>Background</h4> Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations and can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatments. Unfortunately, many variants identified during diagnostic testing are variants of uncertain significance (VOUS). This complicates management decisions, delays treatmen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4513484b-e34b-58d1-ba17-75712a65a7d2
DOI: 10.1101/2022.07.04.22277240

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional genomics for curation of variants in telomere biology disorder associated genes, a systematic reviewDOI 10.1101/2022.07.04.22277240Read

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.Semantic proximity Read

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.Semantic proximity Read

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.Semantic proximity Read

Germline RTEL1 Variants in Telomere Biology Disorders.Semantic proximity Read

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.Semantic proximity Read

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.Semantic proximity Read

Diagnosis and Management of Pulmonary Manifestations of Telomere Biology DisordersSemantic proximity Read

Clonal hematopoiesis in telomere biology disorders.Semantic proximity Read

Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengthsSemantic proximity Read

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.Semantic proximity Read

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.Semantic proximity Read

Clinical manifestations of telomere biology disorders in adultsSemantic proximity Read