Results 161 to 170 of about 178,713 (349)

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

, 2020
Ying Peng, Jinxin Miao, Yafei Zhai, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
openalex   +1 more source

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

, 2021
Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva Pereira, Marta D. Costa, Daniela Vilasboas‐Campos, Bruno Filipe Bettencourt, Jácome Bruges‐Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrı́cia Maciel, Manuela Lima   +18 more
openalex   +1 more source

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish [PDF]

, 2013
Sean O. Ryan, Jason R. Willer, Lindsay Marjoram, Jennifer Bagwell, Jamie L. Mankiewicz, Ignaty Leshchiner, Wolfram Goessling, Michel Bagnat, Nicholas Katsanis   +8 more
openalex   +1 more source

Supplementary Table 1 from Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis

, 2023
Marco Dal Molin, Ming Zhang, Roeland F. de Wilde, Niki A. Ottenhof, Neda Rezaee, Christopher L. Wolfgang, Amanda L. Blackford, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Anirban Maitra, Laura D. Wood   +12 more
openalex   +1 more source

OC11.05: Delineating the genetic causes of non‐immune hydrops fetalis by whole‐exome sequencing: a pilot series [PDF]

, 2023
Ming Chen
openalex   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Supplementary Figure 1 from Whole-Exome Sequencing Reveals Defective <i>CYP3A4</i> Variants Predictive of Paclitaxel Dose-Limiting Neuropathy

, 2023
María Apellániz-Ruiz, Mi‐Young Lee, Lara M. Munín Sánchez, Gerardo Gutiérrez‐Gutiérrez, Isabel Calvo, Laura García‐Estévez, María Sereno, Jesús García-Donás, Beatriz Castelo, Eva Guerra, Luis J. Leandro‐García, Alberto Cascón, Inger Johansson, Mercedes Robledo, Magnus Ingelman‐Sundberg, Cristina Rodríguez‐Antona   +15 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source