Results 191 to 200 of about 174,007 (375)

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders, EarlyView.
Abstract Background Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.
Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha‐Boukbiza, Zhidong Cen, Dehao Yang, Xinhui Chen, Reza Maroofian, Henry Houlden, Gioia Cappelletti, Anne‐Claire Richard, Olivier Quenez, Camilo Toro, Steven J. Frucht, Francesco Lotti, Wei Luo, David Hunt, Gael Nicolas, Giulietta M. Riboldi   +19 more
wiley   +1 more source

Co-circulation of multiple subtypes of enterovirus A71 (EV- A71) genotype C, including novel recombinants characterised by use of whole genome sequencing (WGS), Denmark 2016 [PDF]

, 2017
Sofie Midgley, Astrid G Nielsen, Ramona Trebbien, Mille Weismann Poulsen, Peter Henrik Andersen, Thea Kølsen Fischer   +5 more
openalex   +1 more source

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

87P Enhancing treatment strategies for metastatic high-grade neuroendocrine neoplasms: Insights from extensive genomic profiling through WES and WGS in a phase I clinical setting [PDF]

S.K. Krogshede, Ida Kappel Buhl, Louis J. Perino, Christian Baudet, Christina W. Yde, Malene Martini Clausen, Ida Elisabeth Viller Tuxen, Martin Hoejgaard, Seppo W. Langer, Iben Spanggaard, Kristoffer Staal Rohrberg   +10 more
openalex   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Nanopore Direct from Sputum WGS comparison to Illumina

, 2022
Michael B. Hall
openalex   +1 more source

Genome‐wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas

The Journal of Pathology, EarlyView.
Abstract Type B1 and B2 thymomas are lymphocyte‐rich malignant tumours with few somatic mutations in protein‐coding regions of the nuclear genome; nonetheless, noncoding regions remain uncharacterized. Here, we developed a method to isolate pure thymoma cells from lymphocyte‐rich tissues, and then performed genome‐wide deep sequencing. The total number
Kohei Fujikura, Isabel Correa, Susanne Heck, Kaoru Watanabe, Juliet King, Emma McLean, Susan Ndagire, Yoshihisa Takahashi, Masahiko Kuroda, Andrea Bille, Daisuke Nonaka   +10 more
wiley   +1 more source

Table S2 - WGS and RNAseq summary information

, 2019
Ammar Aziz, Derek S. Sarovich, Elizabeth Nosworthy, Jemima Beissbarth, Anne B. Chang, Heidi Smith‐Vaughan, Erin P. Price, Tegan M. Harris   +7 more
openalex   +2 more sources

Neural network approach to somatic SNP calling in WGS samples without a matched control [PDF]

, 2022
Sergey Vilov, Matthias Heinig
openalex   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source