Results 121 to 130 of about 193,929 (313)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness [PDF]
, 2012 Isabelle Audo +51 more
openalex +2 more sources
Plant Sequence Capture Optimised for Illumina Sequencing
Bio-Protocol, 2014 Plant Sequence Capture is used for targeted resequencing of whole exomes (all exons of a genome) of complex genomes e.g. barley and its relatives (Mascher et al., 2013).
Axel Himmelbach +2 more
doaj +1 more source
Convolutions of Liouvillian Sequences [PDF]
arXiv, 2018 While Liouvillian sequences are closed under many operations, simple examples show that they are not closed under convolution, and the same goes for d'Alembertian sequences. Nevertheless, we show that d'Alembertian sequences are closed under convolution with rationally d'Alembertian sequences, and that Liouvillian sequences are closed under convolution
arxiv
High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer [PDF]
, 2011 Tao Jiang +4 more
openalex +1 more source
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
F1000Research, 2017 X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding
Amit Rawat +9 more
doaj +1 more source
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source
Whole exome sequencing in patients with white matter abnormalities
Annals of Neurology, 2016 Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups.
Tina Hambuch +33 more
openaire +6 more sources
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto +52 more
wiley +1 more source
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa [PDF]
, 2011 Stephan Züchner +21 more
openalex +1 more source