Results 81 to 90 of about 128,279 (119)

Beyond Targeted Gene Panels: Whole-Exome Sequencing as a Strategic Platform for Precision Therapeutics in Alzheimer's Disease. [PDF]

Life (Basel)
Perezcano C, Pérez-Coria M, Ricardi-Mendoza Á.   +2 more
europepmc   +1 more source

Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis. [PDF]

PLoS One
Li TQ, Zhang Q, Wang HJ, Ma ZF, Lu BY, Hou KG, Zhang XY.   +6 more
europepmc   +1 more source

Identifying a <i>CATSPERB</i> Variants in unexplained male infertility through familial exome sequencing. [PDF]

Bioimpacts
Mousavi SZ, Kouhi P, Esmaeili V, Rokhsattalab Z, Esmaeilzadeh A, Almadani N, Mohammad Soltani B, Totonchi M.   +7 more
europepmc   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms. [PDF]

Clin Genet
Giovannangeli L, Daire E, Messaoudi K, Herent D, Desjeux N, Lacot-Leriche E, Sauval S, Dirani S, De Groote P, Klug D, Baudelet JB, Delarue A, Domanski O, Fontanges PA, Ghoumid J, Marsili L, Hermida A, Jobic F, Jedraszak G.   +18 more
europepmc   +1 more source

The case for caution in the application of whole-exome sequencing data for immune repertoire analysis. [PDF]

Brief Bioinform
Gong Z, Zhang W, Du B, Wu H, Li S.
europepmc   +1 more source

GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data. [PDF]

Cancer Inform
Bambach NE, Ricarte-Filho JC, Reichenberger ER, Franco AT.   +3 more
europepmc   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study. [PDF]

Epilepsia Open
Pirker AP, Ernst M, Wagner M, Bonelli SB, Trimmel K, Jud J, Graf E, Dorfer C, Rössler K, Aull-Watschinger S, Pataraia E, Zimprich F, Krenn M.   +12 more
europepmc   +1 more source

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources. [PDF]

Int J Mol Sci
Verdura E, Montalbán-Casafont A, Solé X, Titos E, González-Roca E, Sánchez-Cárdenas C, López V, Palau N, Sánchez P, Mendoza-Cantero A, Rodriguez-Elena L, Jiménez D, Paredes-Fuentes AJ, Gort L, Rodríguez-Revenga L, Madrigal I, López-Púa Y, García-Villoria J, Badenas C, Villanueva-Cañas JL, Puig-Butillé JA.   +20 more
europepmc   +1 more source