Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Autor: Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu

Publikováno v: Genome Biology, Vol 22, Iss 1, Pp 1-23 (2021)

Abstract Background Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-l

Externí odkaz: https://doaj.org/article/c5365bb671514dddbb3d5b324f62ed28

Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019

Autor: Christine Haag, F. Raue, K. Frank-Raue, Egbert Schulze

Publikováno v: Journal für Mineralstoffwechsel & Muskuloskelettale Erkrankungen. 26:44-49

Die familiare hypocalciurische Hypercalcamie (FHH1) ist ein autosomal-dominant vererbtes Leiden bedingt durch eine inaktivierende Mutation im Calcium-sensing-Rezeptor (CaSR) mit lebenslang bestehender Hypercalcamie und relativer Hypocalciurie. Selten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0158f6349e4f22185d202f109e60070
https://doi.org/10.1007/s41970-019-0066-5

Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1

Autor: Lars Christian Rump, M. Sorokina, Holger S. Willenberg, Matthias Schott, Matthias Haase, Egbert Schulze, Margret Ehlers, Marcus Quinkler, Gabriele Dekomien, Till Dringenberg

Publikováno v: Hormone and Metabolic Research. 48:865-868

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b44dc8e513e6cea6a7cb179c1718d691
https://doi.org/10.1055/s-0042-121494

Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature

Autor: Egbert Schulze, Catherine Lorz, Daniela Klose, Daniela Choukair, Markus Bettendorf, Janna Mittnacht, Jessica Jesser, Thomas Breil, Ioana Inta

Publikováno v: Hormone research in paediatrics. 89(3)

Background: Paediatric prolactinomas are rare. The aim of this study was to investigate the clinical features and outcome of paediatric patients with prolactinomas. Methods: In this single-centre retrospective analysis, clinical, biochemical, and rad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a25f01b7a165c8ea9594e5db41813589
https://pubmed.ncbi.nlm.nih.gov/29455199

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

Autor: Peter H. Heidemann, Martin Wabitsch, Dirk Schnabel, Christof Schöfl, Christine Haag, Egbert Schulze, Reinhard Santen, Friedhelm Raue, Josef Pichl, Karin Frank-Raue, Helmuth-G. Dörr, C. Jaursch-Hancke, Gerhard Hammersen

Publikováno v: Clinical Endocrinology. 75:760-765

Summary Objective Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::063b9da299ec6017b7846ebeeb0bc379
https://doi.org/10.1111/j.1365-2265.2011.04142.x