Results 201 to 210 of about 187,376 (271)

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

, 2014
Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vézina, Uta Lichter‐Konecki, Kristina Cusmano‐Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand   +10 more
openalex   +1 more source

An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data. [PDF]

Sci Rep
Shil A, Arava N, Levi N, Levine L, Golan H, Meiri G, Michaelovski A, Tsadaka Y, Aran A, Menashe I.   +9 more
europepmc   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Whole Exome Sequencing in Prenatal Diagnostics [PDF]

, 2018
Becher, Naja, Miltoft, Caroline Borregaard, Pedersen, Lars Henning, Vogel, Ida, Petersen, Olav Bjørn   +4 more
openaire   +1 more source

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders. [PDF]

BMC Genomics
Qin Y, Senglong M, Touch K, Xiao J, Fang R, Kang Q, Fan L, Li S, Liu J, Wu J, Wu Y, Shi X, Liu H, Gong X, Lin X, Feng L, Chen S, Li W.   +17 more
europepmc   +1 more source

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma. [PDF]

PLoS One
Pomares AA, Merino LR, González S, Morata J, Tonda R, Arribas P, Revert J, Carrillo E, Grande C, Roncero JM, de Oteyza JP, Nicolás C, Gutierrez N, Abrisqueta P, Gutiérrez A, Ramírez-Páyer Á, Garcia-Sancho AM, González-Barca E, Montes-Moreno S, GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain.   +20 more
europepmc   +1 more source

Epigenomics‐guided precision oncology: Chromatin variants in prostate tumor evolution

International Journal of Cancer, EarlyView.
Abstract Prostate cancer is a common malignancy that in 5%–30% leads to treatment‐resistant and highly aggressive disease. Metastasis‐potential and treatment‐resistance is thought to rely on increased plasticity of the cancer cells—a mechanism whereby cancer cells alter their identity to adapt to changing environments or therapeutic pressures to create
Kira Furlano, Tina Keshavarzian, Nadine Biernath, Annika Fendler, Maria de Santis, Joachim Weischenfeldt, Mathieu Lupien   +6 more
wiley   +1 more source

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing. [PDF]

BMJ Case Rep
Wells PA, Basu AP, Yates LM.
europepmc   +1 more source

Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort. Methods A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal ...
Min Li, Yi Wu, Yiyao Chen, Hui Wang, Weiwei Cheng, Baoying Ye   +5 more
wiley   +1 more source

Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities. [PDF]

Heliyon
Li SY, Cao W, Ge Y, Lvy W, Liu YP, Qin L.   +5 more
europepmc   +1 more source