Results 191 to 200 of about 122,453 (313)

Enhancing Variant Calling in Whole Exome Sequencing (WES) Data Using Population-Matched Reference Genomes [PDF]

Shuming Guo, Zhuo Huang, Yanming Zhang, Yukun He, Xiangju Chen, Wenjuan Wang, L.M. Li, Yu Kang, Zhancheng Gao, Jun Yu, Zhenglin Du, Yanan Chu   +11 more
openalex   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
europepmc   +1 more source

Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care [PDF]

, 2014
Hanns‐Georg Klein, Peter Bauer, Tina Hambuch   +2 more
openalex   +1 more source

Diabetic Peripheral Neuropathy: Molecular Staging, Risk Factors, Therapeutics, and Emerging Trends

Med Research, EarlyView.
The heterogeneous landscape of DPN can be unified through a tripartite pathogenic model encompassing progressive stages of metabolic dysregulation, chronic inflammation, and overt neuronal damage. Within this framework, six clinical subtypes were identified, namely, hyperglycemia‐driven, dyslipidemia‐driven, inflammation‐driven, dysvascularity‐driven ...
Xiaofeng Dai, Mingze Tang
wiley   +1 more source

Genomic landscape of high-grade meningiomas [PDF]

, 2017
Artyomov, Maksym, Dunn, Gavin P, Esaulova, Ekaterina, et al,   +3 more
core   +2 more sources

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, EarlyView.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification. [PDF]

BMC Genomics
Samitova A, Belova V, Vasiliadis I, Repinskaia Z, Gorodnicheva T, Romanov E, Pogosyan M, Gaysin E, Nazarenko T, Rebrikov D, Korostin D.   +10 more
europepmc   +1 more source

Additional file 5 of The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

, 2020
Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng   +4 more
openalex   +1 more source