Mendelian etiologies identified with whole exome sequencing in cerebral palsy
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DOI: 10.1002/acn3.51506
Abstract: Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of… read more here.
Keywords: whole exome; cerebral palsy; mendelian etiologies; exome sequencing ... See more keywords
Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
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DOI: 10.1002/acn3.742
Abstract: [This corrects the article DOI: 10.1002/acn3.582.]. read more here.
Keywords: exome sequencing; sequencing 197; 197 persons; rare variants ... See more keywords
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1191
Abstract: BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE… read more here.
Keywords: hypoplasia type; case; bainbridge ropers; ropers syndrome ... See more keywords
Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
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DOI: 10.1002/da.23251
Abstract: Genetic factors contribute to the development of anxiety disorders, yet few risk genes have been previously identified. One genomic approach that has achieved success in identifying risk genes in related childhood neuropsychiatric conditions is investigations… read more here.
Keywords: anxiety disorders; exome dna; whole exome; childhood anxiety ... See more keywords
Whole exome association of rare deletions in multiplex oral cleft families
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DOI: 10.1002/gepi.22010
Abstract: By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single… read more here.
Keywords: risk; rare deletions; whole exome; families whole ... See more keywords
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
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DOI: 10.1002/humu.24459
Abstract: Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES) has become the diagnostic gold standard, but causative variant prioritization constitutes a bottleneck. Here we assessed an in‐house sample‐to‐sequence pipeline and benchmarked free prioritization… read more here.
Keywords: causal variants; exome sequencing; pipeline; whole exome ... See more keywords
Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.
Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords
Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1657
Abstract: Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus,… read more here.
Keywords: exome sequencing; thoracic deformities; microtia thoracic; sequencing analysis ... See more keywords
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)
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DOI: 10.1002/mgg3.1885
Abstract: Ehlers–Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with… read more here.
Keywords: ehlers danlos; whole exome; differential diagnosis; sequencing facilitates ... See more keywords
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases
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DOI: 10.1002/mgg3.1943
Abstract: Mitochondrial disease (MD) is genetically a heterogeneous group of disorders with impairment in respiratory chain complexes or pathways associated with the mitochondrial function. Nowadays, it is still a challenge for the genetic screening of MD… read more here.
Keywords: alternative method; whole exome; method diagnosis; exome sequencing ... See more keywords
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran
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DOI: 10.1002/mgg3.2099
Abstract: Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well… read more here.
Keywords: glycogen storage; exome sequencing; storage diseases; whole exome ... See more keywords