Posts for Archives: Publications

Adams-Oliver syndrome (AOS) is a genetically heterogeneous disorder with cardinal features of aplasia cutis congenita and terminal limb reduction defects. A minority of individuals with AOS develop potentially lethal pulmonary hypertension (PH) in infancy, a subgroup that has been refractory to genetic explanation.

Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given […]

Anti-recombinant human acid α-glucosidase (rhGAA) antibodies can develop in adult Pompe patients receiving enzyme replacement therapy (ERT), but their long-term impact on clinical treatment outcomes is currently unclear.

Impaired endochondral bone growth in people with achondroplasia causes complications that impair function, cause pain, require surgery, and contribute to mortality. Rates of complications in participants with achondroplasia enrolled in clinical trials of vosoritide, a targeted treatment, were analyzed and compared with published natural history (NH) rates.

Mucopolysaccharidosis II (MPS II, OMIM 309900) is a lysosomal disorder recommended for newborn screening (NBS) in the United States. This study evaluated outcomes of high-throughput NBS for MPS II and use of 2 reflex testing methods to improve sensitivity and specificity.

Polygenic risk scores (PRS) have been gaining attention as a key innovation in genomic medicine, offering probabilistic risk estimates of common complex diseases from inherited susceptibility. By aggregating the small effects of numerous common genetic variants, PRS may improve risk stratification at both individual and population levels, supporting preventive and broader health care strategies. In […]

Cancer risks of individuals heterozygous for an ATM pathogenic or predicted pathogenic variant (PV/PPV) remain imprecise to guide optimal clinical management. Therefore, we aimed to estimate these risks in different family settings.

The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. This work summarizes the findings of the Cranio GCEP during its first round of curation, aiming to provide expert guidance for clinical validity of gene-disease relationships in the […]

The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the VHL gene, including phenotype-driven and evidence-based criteria, utilizing somatic and germline mutational hotspots, along with functional and in-silico data.

The Clinical Genome Resource (ClinGen) is creating a central resource of clinically relevant genetic knowledge to improve genomic medicine. Dissemination and use of the ClinGen Resource is essential to ensure broad community uptake. We report on experiences and sustained use of ClinGen tools through engaging international genetics groups based in India, Africa and Singapore in […]