Explanipedia

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease Open

Alka Malhotra, Erin Thorpe, Alison J. Coffey, Revathi Rajkumar, Josephine Adjeman , et al. · 2025

Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individ…

P707: Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients Open

Aditi Chawla, Samuel P. Strom, Brittany C. Thomas, Samin A. Sajan, Qing Zhang , et al. · 2025

P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases Open

Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin A. Sajan, Brittany C. Thomas , et al. · 2025

P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* Open

Erin Venti, Diane Masser‐Frye, Miguel Del Campo, Marilyn C. Jones, Mario Cornejo‐Olivas , et al. · 2025

P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing Open

Josh Lowry, Zinayida Schlachetzki, Brendan Burns, Ajay Ramakrishnan Varadarajan, Brittany C. Thomas , et al. · 2025

Relationship of tissue dimensions and stun placement on cadaver heads from 2- to 3-yr-old male bison (Bison bison) Open

Allison L Matzek, Emma Hamilton, Ashlynn A Kirk, Denise Perry, Kurt Vogel , et al. · 2025

The bison industry in the United States has been growing rapidly. In 2023, over 75,000 bison were commercially slaughtered, but stunning methods for bison did not appear to be scientifically evaluated at the time of our study. Our primary …

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

Jeny Bazalar‐Montoya, Mario Cornejo‐Olivas, Milagros Dueñas, Nelson Purizaca‐Rosillo, Richard Rodríguez , et al. · 2024

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 limit…

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…

A framework for the evaluation and reporting of incidental findings in clinical genomic testing Open

Carolyn M. Brown, Laura M. Amendola, Anjana Chandrasekhar, R. Tanner Hagelstrom, Gillian Halter , et al. · 2024

P636: Lp(a) genetic risk screening using genome sequencing Open

Samuel P. Strom, Laura M. Amendola, Aditi Chawla, Vitor Onucic, Denise Perry , et al. · 2024

Elevated blood Lp(a) levels are an established cardiovascular disease (CVD) risk factor, but routine assessment of the LPA locus is confounded by a complex variable number tandem repeat (VNTR). A dedicated LPA variant caller for PCR-free g…

Table of Contents Open

Leland E. Hull, Kelsey Flannery, Anjali J. Kaimal, Karen Sepucha, Heidi Rehm , et al. · 2023

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…

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Open

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best , et al. · 2023

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

Amanda Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett , et al. · 2023

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…

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

P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test Open

Alka Malhotra, Rueben Hejja, James Avecilla, Andrew Walker, Phillip Medrano , et al. · 2023

P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation Open

Katie Golden‐Grant, Amanda Buchanan, Alison J. Coffey, Yvonne Brew, Brittany C. Thomas , et al. · 2023

P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population Open

Brittany C. Thomas, Akanchha Kesari, Aimé Lumaka, Mario Cornejo‐Olivas, David Ward , 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

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Open

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best , et al. · 2022

PURPOSE Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigat…

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain Open

Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar , et al. · 2022

Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment. CDKL5 …

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing Open

Prince Makay, Gerrye Mubungu, Aimée Mupuala, Krista Bluske, Carolyn M. Brown , et al. · 2022

PERCHING syndrome is a rare multisystem developmental disorder caused by autosomal recessive (AR) variants (truncating and missense) in the Kelch‐like family member 7 gene (KLHL7) . We report the first phenotypic and molecular description …

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…

eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy Open

Anjana Chandrasekhar, Zinayida Schlachetzki, Alison J. Coffey, Ali G. Fenstermaker, Richard Wang , et al. · 2022

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

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome Open

Kayla Muirhead, Amanda Clause, Zinayida Schlachetzki, Holly Dubbs, Denise Perry , et al. · 2021

Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, incl…

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.

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg Open

Lindsey Schmidt, Karen E. Wain, Catherine Hajek, Juvianee Estrada‐Veras, María J. Guillen Sacoto , et al. · 2020

Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is TUBB2A-related tubulinopathy. Currently, there are 9 reported individual…

Whole genome sequencing for diagnosis of neurological repeat expansion disorders Open

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko , et al. · 2020

Background Repeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of a…

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