Results 191 to 200 of about 237,110 (353)

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]

Case Rep Hematol
Upadhaya P, Shrestha A.
europepmc   +1 more source

Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via Off-Target Sequence Reads [PDF]

, 2013
Youna Hu, Cristen J. Willer, Xiaowei Zhan, Hyun Min Kang, Gonçalo R. Abecasis   +4 more
openalex   +1 more source

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing

, 2022
Emran Esmaeilzadeh, Zhila Ghaderi, Arman Moradi, Hamid Reza Khorram Khorshid   +3 more
openalex   +2 more sources

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

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

Supplemental Figure 2 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer

, 2023
Junko Tsuji, Tianyu Li, Albert Grinshpun, Tim Coorens, Douglas Russo, Leilani Anderson, Rebecca Rees, Agostina Nardone, Candace Patterson, Niall J. Lennon, Carrie Cibulskis, Ignaty Leshchiner, Nabihah Tayob, Sara M. Tolaney, Nadine Tung, Donald P. McDonnell, Ian E. Krop, Eric P. Winer, Chip Stewart, Gad Getz, Rinath Jeselsohn   +20 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

Evaluation of HLA Region-Specific High-Throughput Sequencing FASTQ Reads Combined with Ensemble HLA-Typing Tools for Rapid and High-Confidence HLA Typing. [PDF]

Biology (Basel)
Padul VG, Gill M, Perez JA, Lopez JJ, Kesari S, Ashili S.   +5 more
europepmc   +1 more source