Julie P. Taylor

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Ada Hamosh, Jonathan S. Berg, Marie B. Balzotti, Anne O'Donnell-Luria et autres

us (code pays fourni par la source)

Development of a comprehensive cardiovascular disease genetic risk assessment test

Laura M. Amendola, Alison J. Coffey, Josh Lowry, James Avecilla et autres

Purpose: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and variant interpretation burden. To address these limitations, a comprehensive clinical genome CVD test with …

us (code pays fourni par la source)

Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report

Leonardo Cruz-Criollo, Wilhelm Dávila-Salazar, Elison H. Sarapura‐Castro, Andrea Rivera‐Valdivia et autres

pe, us (code pays fourni par la source)

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah et autres

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was formed to address an unmet need. Methods: The SD-GCEP applied ClinGen's framework …

us, de, au, sg, gb, ca, Afrique du Sud, br (code pays fourni par la source)

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah et autres

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need. Methods: The SD-GCEP applied ClinGen's framework to evaluate …

us, de, sg, au, gb, ca, Afrique du Sud, br (code pays fourni par la source)

Clinical genome sequencing in patients with suspected rare genetic disease in Peru

Jeny Bazalar Montoya, Mario Cornejo‐Olivas, Milagros Dueñas, Nelson Purizaca‐Rosillo et autres

There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing. …

pe, us (code pays fourni par la source)

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm et autres

se, tr, us, nl, au, th, ca, de, jp, mx, in, br, sg, Ghana, gb, lk, pk, es, République démocratique du Congo, Mali, it, ec, ge, dk, fr, cn (code pays fourni par la source)

Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

Laura M. Amendola, Alison J. Coffey, Josh Lowry, James Avecilla et autres

Background: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and interpretation burden. Methods: We developed a comprehensive clinical genome CVD test with semi-automated interpretation. …

us, sg (code pays fourni par la source)

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray et autres

us, kr, au, gb, dk, fr, ca, jp (code pays fourni par la source)

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*

Marina T. DiStefano, Fowzan Sami Alkuraya, Joanna S. Amberger, Christina Anne Austin-Tse et autres

The Gene Curation Coalition (GenCC) was formed in 2017 to bring together international resources reporting the validity of gene-disease relationships. It comprises organizations that currently provide online gene-level resources (ClinGen, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, Gene2Phenotype Database), as well as …

us, sa, gb, de, sg, fr, au (code pays fourni par la source)

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Elizabeth M. McCormick, Kierstin N. Keller, Julie P. Taylor, Alison J. Coffey et autres

OBJECTIVE: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge …

us, hu, Cameroun, gb (code pays fourni par la source)

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske et autres

Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease Clinical Validity framework in our interpretation and reporting workflow …

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