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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective ...

eyeVarP: a computational framework for the identification of pathogenic variants specific to eye disease.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Disease-specific pathogenic variants prediction tools that predict pathogenic variants from benign have been improved through disease specificity recently. However, they have not been evaluated on disease-specific pathogenic variants compared to other diseases, which would help to prioritize disease-specific variants from several genes or novel gen...

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9. Individuals were clinically examined. Variants were identified using exome or genome sequencing. These variants were evaluated using in silico predictions and their functional relevance was further asses...

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: implication for MC4R agonist use.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Recessive deficiency for proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the MC4R agonist setmelanotide. Furthermore, a phase 3 clinical trialis evaluating setmelanotide in heterozygotes for POMC. We performed a large-scale genetic analysis assessing the effect of heterozygous, pathogenic POMC variants o...

Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Dominant variants in the Retinoic Acid Receptor Beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. Here, we report 25 affected individuals with 17 novel pathogenic or likely pathogenic variants in RARB. This st...

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

This study aimed to establish variants in CBX1, encoding heterochromatin protein 1β (HP1β), as a cause of a novel syndromic neurodevelopmental disorder. Patients with CBX1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. To investigate ...

Barriers to Completion of Expanded Carrier Screening in an Inner City Population.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

The American College of Medical Genetics and Genomics emphasizes a "consistent and equitable approach for offering carrier screening". At our academic center, publicly insured prenatal patients underwent universal Expanded Carrier Screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete E...

The Value of Intersectionality for Genomic Research on Human Behavior.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Standardizing variation: Scaling up clinical genomics in Australia.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Clinical genomics demands close interaction of physicians, laboratory scientists, and genetic professionals. Taking genomics to scale requires an understanding of the underlying processes from the perspective of nongenetic physicians who are new to the field. We identified components of the processes amenable to adaptation when scaling up clinical ...

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant i...

Published in Genetics in medicine : official journal of the American College of Medical Genetics

This study aimed to explore whether evidence of pathogenicity from prior variant classifications in ClinVar could be used to inform variant interpretation using the American College of Medical Genetics and Genomics/Association for Molecular Pathology clinical guidelines. We identified distinct single-nucleotide variants (SNVs) that are either simil...