Results 41 to 50 of about 15,235 (121)

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, Volume 41, Issue 1, Page 70-83, January 2026.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
First Chinese neonatal cases of systemic PHA1B from novel compound‐heterozygous SCNN1B variants (c.585+2T>C; c.1544T>C) presented with life‐threatening hyperkalemia and hyponatremia unresponsive to steroids. Early genetic testing enabled targeted sodium supplementation and potassium‐binding therapy, normalizing electrolytes and underscoring SCNN1B ...
Zhiping Wang, Lijuan Long, Hongjuan Bi
wiley   +1 more source

Database resources of the National Center for Biotechnology Information: update

Nucleic Acids Research, 2004
In addition to maintaining the GenBank(R) nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides data analysis and retrieval resources for the data in GenBank and other biological data made available through ...
David L. Wheeler, D. Church, Ron Edgar, S. Federhen, W. Helmberg, Thomas L. Madden, J. Pontius, G. Schuler, L. Schriml, Edwin Sequeira, Tugba Onal Suzek, T. Tatusova, L. Wagner   +12 more
semanticscholar   +1 more source

GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM

BMC Bioinformatics
Background Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database.
K. M. Tahsin, Hassan Rahit, Vladimir Avramovic, Jessica X. Chong, Maja Tarailo-Graovac   +4 more
semanticscholar   +1 more source

Lethal phenotypes in Mendelian disorders

medRxiv
Essential genes are those whose function is required for cell proliferation and/or organism survival. A gene's intolerance to loss-of-function can be allocated within a spectrum, as opposed to being considered a binary feature, since this function might ...
P. Cacheiro, Samantha Lawson, I. B. Van den Veyver, G. Marengo, David Zocche, Steve Murray, Michael H Duyzend, Peter N. Robinson, D. Smedley   +8 more
semanticscholar   +1 more source

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. [PDF]

BMC Med Genomics
Xu J, Xu Y, Su W, Chen L, Wang Y, Li H.
europepmc   +1 more source

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source

Aspartame and cardiovascular disease: Unraveling potential molecular mechanisms through integrative network toxicology, molecular docking, and dynamics simulation. [PDF]

Medicine (Baltimore)
Yang T, Luo J, Zhang L, Li H, Wang J.
europepmc   +1 more source

Investigating the potential anti-cancer mechanism for thyroid cancer: Role of Herba Epimedii via network pharmacology approach. [PDF]

J Genet Eng Biotechnol
Wang X, Guo L, Feng Y, Jin G.
europepmc   +1 more source

Online Mendelian Inheritance in Animals (OMIA): a comparative knowledgebase of genetic disorders and other familial traits in non-laboratory animals

Nucleic Acids Res., 2003
F. Nicholas
semanticscholar   +1 more source