Results 231 to 240 of about 237,110 (353)

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets [PDF]

, 2017
Soroush Samadian, Jeff Bruce, Trevor J. Pugh   +2 more
openalex   +1 more source

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

, 2021
Quentin Thomas, Antonio Vitobello, Frédéric Tran Mau‐Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoît Daubail, Agnès Jacquin-Piques, Marie Hervieu‐Bègue, Thibault Moreau, Guy‐Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange‐Line Bruel, Arthur Sorlin, Patrick Callier, Anne‐Sophie Denommé‐Pichon, Laurence Faivre, Yannick Béjot, Christophe Philippe, Christelle Thauvin-Robinet, Sébastien Moutton   +22 more
openalex   +2 more sources

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Long-read sequencing transcriptome quantification with lr-kallisto. [PDF]

PLoS Comput Biol
Loving RK, Sullivan DK, Reese F, Rebboah E, Sakr J, Rezaie N, Liang HY, Filimban G, Kawauchi S, Booeshaghi AS, Melsted P, Oakes C, Trout D, Williams BA, MacGregor GR, Wold BJ, Mortazavi A, Pachter L.   +17 more
europepmc   +1 more source

Exome Sequencing and Molecular Diagnosis [PDF]

Deutsches Ärzteblatt international, 2019
openaire   +2 more sources

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Advances in Laboratory Medicine, 2020
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia   +5 more
doaj   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source