Explanipedia

Negative symptoms and resting-state functional connectivity across psychotic and mood disorders: A systematic literature review Open

Nada Dalloul, Connor van Huijgevoort, John W. Belmont, Deanna M. Barch · 2025

Negative symptoms are strongly linked to disability and distress across psychotic and mood disorders. Current treatments are ineffective due to a limited understanding of their neurological bases. Dysconnectivity is thought to contribute t…

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases Open

Chad A. Shaw, Christopher Williams, Taotao Tan, Daniel Illera, Na Di , et al. · 2025

The Causal Pivot: A Structural Approach to Genetic Heterogeneity and Variant Discovery in Complex Diseases Open

Chad A. Shaw, Christopher Williams, Tan Tao, Na Di, Joshua Shulman , et al. · 2024

We present the Causal Pivot (CP) as a structural causal model (SCM) for analyzing genetic heterogeneity in complex diseases. The CP leverages one established causal factor to detect the contribution of a second suspected cause. Specificall…

The impact of clinical genome sequencing in a global population with suspected rare genetic disease Open

Erin Thorpe, Taylor Williams, Chad A. Shaw, Evgenii Chekalin, Julia Ortega , et al. · 2024

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

Laura M. Amendola, Alison J. Coffey, Josh Lowry, James Avecilla, Alka Malhotra , et al. · 2024

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 de…

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders Open

Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor , et al. · 2024

Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical…

Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome Open

Hyejeong Hong, Katharina Schulze, Ian E. Copeland, Manasa Atyam, Kendra Kamp , et al. · 2023

Irritable Bowel Syndrome (IBS) is characterized by abdominal pain and alterations in bowel pattern, such as constipation (IBS-C), diarrhea (IBS-D), or mixed (IBS-M). Since malabsorption of ingested carbohydrates (CHO) can cause abdominal s…

The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease Open

Ryan J. Taft, Erin Thorpe, Taylor Williams, Chad A. Shaw, Evgenii Chekalin , et al. · 2023

Clinical genome sequencing (cGS) holds promise as a unified diagnostic testing platform in patients with a suspected rare genetic disease (RGD), however its performance and impact on clinical management in a diverse global population has y…

O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients* Open

Ryan J. Taft, Erin Thorpe, John W. Belmont, Taylor Williams, Chad A. Shaw , et al. · 2023

P420: Development of a comprehensive cardiovascular disease whole genome sequencing test Open

Laura M. Amendola, Alison J. Coffey, Samuel P. Strom, Akanchha Kesari, James Avecilla , et al. · 2023

Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome Open

John W. Belmont · 2022

Hypoplastic left heart syndrome (HLHS) is among the most severe cardiovascular malformations and understanding its causes is crucial to making progress in prevention and treatment. Genetic analysis is a broadly useful tool for dissecting c…

Recommendations for whole genome sequencing in diagnostics for rare diseases Open

Erika Souche, Sergi Beltrán, Erwin Brosens, John W. Belmont, Magdalena Fossum , et al. · 2022

Best practices for the interpretation and reporting of clinical whole genome sequencing Open

Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft , et al. · 2022

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address thes…

OP039: Best practices for the interpretation and reporting of clinical genome sequencing Open

Chrissy Austin-Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft , et al. · 2022

Centers for Mendelian Genomics: A decade of facilitating gene discovery Open

Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong , et al. · 2022

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases Open

Devin Incerti, Xiangming Xu, Jacquelyn W. Chou, Nina Gonzaludo, John W. Belmont , et al. · 2021

The results of this economic model suggest that GS may be cost neutral or possibly cost saving as a first line diagnostic tool for children and critically ill infants.

The diagnostic trajectory of infants and children with clinical features of genetic disease Open

Brock E. Schroeder, Nina Gonzaludo, Katie Everson, Kyi‐Sin Than, Jeff Sullivan , et al. · 2021

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease Open

Ian D. Krantz, Līvija Medne, Jamila Weatherly, K. Taylor Wild, Sawona Biswas , et al. · 2021

ClinicalTrials.gov Identifier: NCT03290469.

Clinical utility of genomic sequencing: a measurement toolkit Open

Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green , et al. · 2020

Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, rout…

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease Open

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Matthew S. Lebo, Jillian G. Buchan , et al. · 2020

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic Open

Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley , et al. · 2020

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases Open

David Bick, Marilyn C. Jones, Stacie L. Taylor, Ryan J. Taft, John W. Belmont · 2019

Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, …

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome Open

Claudia M.B. Carvalho, Zeynep Coban‐Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton , et al. · 2019

These data provide experimental evidence that, in humans, triplication can lead to segmental UPD and imprinting disease. Importantly, genotype/phenotype analyses further reveal how a post-zygotically generated complex structural variant, r…

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico Open

Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye, Miguel Del Campo, Carolina I. Galarreta , et al. · 2019

Correction: Estimating the burden and economic impact of pediatric genetic disease Open

Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin, Ryan J. Taft · 2019

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum Open

Lisa Emrick, Jill A. Rosenfeld, Seema R. Lalani, Mahim Jain, Nilesh Desai , et al. · 2018

Estimating the burden and economic impact of pediatric genetic disease Open

Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin, Ryan J. Taft · 2018

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Open

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske , et al. · 2018

Robust identification of CNVs by GS is possible within a clinical testing environment.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy Open

Svein I. Støve, Marina Blenski, Asbjørg Stray‐Pedersen, Klaas J. Wierenga, Shalini N. Jhangiani , et al. · 2018

Microdeletions excluding<i>YWHAE</i>and<i>PAFAH1B1</i>cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum Open

Lisa Emrick, Jill A. Rosenfeld, Seema R. Lalani, Mahim Jain, Jill V. Hunter , et al. · 2018

Purpose Brain malformations are caused by 17p13.3 deletions: lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1 , as well as various abnormalities, including white matter changes,…

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