Results 241 to 250 of about 122,453 (313)

Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease. [PDF]

J Clin Neurol
Hong EP, Ha EJ, Youn DH, Chung Y, Kim KM, Lee SH, Cho WS, Kang HS, Jeon JP, Kim JE, First Korean Stroke Genetics Association Research (The FirstKSGAR) Study.   +10 more
europepmc   +1 more source

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

GermVarX: A Robust Workflow for Joint Germline Variant Exploration in whole-exome sequencing cohorts. [PDF]

PLoS One
Nguyen TTP, Nguyen DD, Mai TV, Nguyen DK, Nguyen TD, Truong NTM, Ha HH, Tran TTH.   +7 more
europepmc   +1 more source

Cancer Genome Characterization with SNP Array and Whole-Exome Sequencing Analysis

, 2013
Alexis Ramos
openalex   +1 more source

Reducing INDEL calling errors in whole-genome and exome sequencing [PDF]

, 2014
Han Fang, Gholson J. Lyon
openalex  

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Case Report: First report of a novel homozygous nonsense mutation in the <i>CYBA</i> gene causing chronic granulomatous disease. [PDF]

Front Immunol
Wang WY, Ma PP, Wang SY, Wang YJ.
europepmc   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery. [PDF]

NPJ Genom Med
Fu L, Kim CA, Tokita M, Miyata Y, Okamoto N, Makita Y, Osaka H, Fujimoto A, Daida A, Nirei J, Udagawa N, Hayakawa S, Deguchi K, Fukuda M, Matsumoto H, Akasaka M, Okada J, Misumi Y, Kido J, Suzuki T, Aoi H, Seyama R, Hamanoue H, Mitsuhashi S, Ohori S, Saida K, Inoue Y, Hamanaka K, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Itakura A, Harada N, Fujita A, Matsumoto N.   +36 more
europepmc   +1 more source

Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees. [PDF]

Hum Genomics
Xu YF, Zhang J, Wei TY, Zhang ML, Liu JE, Yang K, Tian YP, Hu HY.   +7 more
europepmc   +1 more source