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   Articles with "whole exome" as a keyword



Mendelian etiologies identified with whole exome sequencing in cerebral palsy

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recommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"

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
Photo by satheeshsankaran from unsplash

Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

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.

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recommendations! 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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recommendations! Published in 2022 at "Depression and Anxiety"

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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recommendations! Published in 2017 at "Genetic Epidemiology"

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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recommendations! Published in 2022 at "Human Mutation"

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
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Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome

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recommendations! 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 for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

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recommendations! Published in 2025 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.70134

Abstract: Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high‐risk families, including those with consanguineous marriages. Whole‐exome sequencing (WES) has shown promise in identifying autosomal recessive disorders, yet its use… read more here.

Keywords: whole exome; genetic screening; consanguineous palestinian; high risk ... See more keywords

Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.

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recommendations! Published in 2025 at "Movement disorders clinical practice"

DOI: 10.1002/mdc3.70418

Abstract: BACKGROUND Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder caused by biallelic ATM gene mutations. While most patients exhibit classical features-progressive ataxia, oculocutaneous telangiectasia, and oculomotor apraxia-atypical presentations and overlapping phenotypes with AT-like disorders pose diagnostic… read more here.

Keywords: whole exome; molecular analysis; ataxia telangiectasia; telangiectasia ... See more keywords

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

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recommendations! 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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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

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