Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing

Autor: Brittany L. Greene, Shannon M. Stasi, Michelle A. Ting, Natalie Waligorski, Bonnie L. Cole, Christina M. Lockwood, Vera A. Paulson, Jillian G. Buchan, Amy Lee, Jeffrey G. Ojemann, Richard G. Ellenbogen, Jeffrey Stevens, Sarah E. S. Leary

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

PurposeSomatic molecular profiling of pediatric brain tumors aids with the diagnosis and treatment of patients with a variety of high- and low-grade central nervous system neoplasms. Here, we report follow-up targeted germline evaluation for patients

Externí odkaz: https://doaj.org/article/8310c51029a946e99c35aa8a93b40535

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

Autor: Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A. Sayer, Jan Halbritter

Publikováno v: The American Journal of Human Genetics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a48c674a9b63f3fa16b84b107ba3d39e
https://doi.org/10.1016/j.ajhg.2023.04.010

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

Autor: Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk

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 investigated the rate of VUS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949

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

Autor: Elizabeth A. Worthey, Jillian G. Buchan, Shashikant Kulkarni, David Dimmock, Pengfei Liu, Hutton M. Kearney, Christian R. Marshall, Ross A. Rowsey, Dimitri J. Stavropoulos, Eric W. Klee, Shimul Chowdhury, Vaidehi Jobanputra, John W Belmont, Medical Genome Initiative, Ryan J. Taft, Steven M. Harrison, Niall J. Lennon, Stacie L Taylor, David P. Bick, Mathew S Lebo

Publikováno v: NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)

Whole-genome sequencing (WGS) has shown promise in becoming 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 th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9150633acf9e80905d11e574ec47a8b
https://pubmed.ncbi.nlm.nih.gov/33110627

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Autor: Nicola Whiffin, Steven M. Harrison, Jodie Ingles, K Thomson, Roddy Walsh, Kate M. Orland, Matthew J Thomas, Mitchell W Dillon, Ana Morales, Katherine Spoonamore, Daniela Macaya, Ray E. Hershberger, Zena T. Wolf, Birgit Funke, Lisa M. Vincent, Hugh Watkins, Gabriele Richard, J. Peter van Tintelen, Arjun K. Manrai, James S. Ware, Christopher Semsarian, Colleen Caleshu, Eden Haverfield, Jillian G. Buchan, Melissa A. Kelly, Stuart A. Cook, Jan D. H. Jongbloed, John Garcia

Publikováno v: Genetics in Medicine, 20(3), 351-359. Nature Publishing Group
Genetics in medicine, 20, 351-359. Lippincott Williams and Wilkins
Genetics in Medicine

Purpose Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Associatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffca2a73b1dab5162be540c2c091d258
https://doi.org/10.1038/gim.2017.218