Multiple endocrine neoplasia type 1: latest insights
ML Brandi, SK Agarwal, ND Perrier, KE Lines… - Endocrine …, 2021 - academic.oup.com
Multiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome that is inherited in an
autosomal dominant pattern, is continuing to raise great interest for endocrinology …
autosomal dominant pattern, is continuing to raise great interest for endocrinology …
The role of host genetic factors in coronavirus susceptibility: review of animal and systematic review of human literature
The SARS-CoV-2 pandemic raises many scientific and clinical questions. These include
how host genetic factors affect disease susceptibility and pathogenesis. New work is …
how host genetic factors affect disease susceptibility and pathogenesis. New work is …
Genome sequencing as a diagnostic test in children with unexplained medical complexity
G Costain, S Walker, M Marano, D Veenma… - JAMA network …, 2020 - jamanetwork.com
Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …
pediatric health care system, with high resource use and associated health care costs. A …
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results …
Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …
Assessment of diagnostic outcomes of RNA genetic testing for hereditary cancer
Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-
accepted clinical practice; however, the interpretation of DNA variation remains a challenge …
accepted clinical practice; however, the interpretation of DNA variation remains a challenge …
Nonsense-mediated decay is highly stable across individuals and tissues
Precise interpretation of the effects of rare protein-truncating variants (PTVs) is important for
accurate determination of variant impact. Current methods for assessing the ability of PTVs …
accurate determination of variant impact. Current methods for assessing the ability of PTVs …
European Reference Networks: challenges and opportunities
B Tumiene, H Graessner, IMJ Mathijssen… - Journal of Community …, 2021 - Springer
Abstract European Reference Networks (ERNs) were founded on the principle that many
rare disease (RD) issues are pan-European and any single Member State cannot solve …
rare disease (RD) issues are pan-European and any single Member State cannot solve …
Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease
Our understanding of inherited retinal disease has benefited immensely from molecular
genetic analysis over the past several decades. New technologies that allow for increasingly …
genetic analysis over the past several decades. New technologies that allow for increasingly …
[HTML][HTML] MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
CF Rowlands, A Taylor, G Rice, N Whiffin… - The American Journal of …, 2022 - cell.com
Variable levels of gene expression between tissues complicates the use of RNA sequencing
of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene …
of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene …
Large 22q13. 3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least
in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or …
in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or …