Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Medicine"
DOI: 10.1002/cam4.5639
Abstract: Administration of targeted therapies provides a promising treatment strategy for urachal adenocarcinoma (UrC) or primary bladder adenocarcinoma (PBAC); however, the selection of appropriate drugs remains difficult. Here, we aimed to establish a routine compatible methodological… read more here.
Keywords: clinical sequencing; bladder; identifies potential; potential actionable ... See more keywords
Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.967
Abstract: X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with… read more here.
Keywords: congenital deafness; identifies donor; exome sequencing; donor splice ... See more keywords
Next-generation sequencing identifies novel mitochondrial variants in pituitary adenomas
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-019-1005-6
Abstract: PurposeDisrupted mitochondrial functions and genetic variants of mitochondrial DNA (mtDNA) have been observed in different human neoplasms. Next-generation sequencing (NGS) can be used to detect even low heteroplasmy-level mtDNA variants. We aimed to investigate the… read more here.
Keywords: adenomas; pituitary adenomas; sequencing identifies; next generation ... See more keywords
WITHDRAWN: Whole genome sequencing identifies novel NOTCH3 mutations for leukoaraiosis.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.02.074
Abstract: This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal. read more here.
Keywords: withdrawn whole; whole genome; identifies novel; novel notch3 ... See more keywords
Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
Sign Up to like & getrecommendations! Published in 2021 at "Urology"
DOI: 10.1016/j.urology.2021.09.021
Abstract: COVID orchitis (testicular pain) is reported in 10-15% of men with long COVID. We identified two siblings with COVID orchitis and hypothesized that genetic mutations are associated with susceptibility. Blood samples from five COVID-19 (+)… read more here.
Keywords: exome sequencing; sequencing identifies; covid orchitis; whole exome ... See more keywords
Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.
Sign Up to like & getrecommendations! Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2017.10.094
Abstract: BACKGROUND Genetic risk factors can contribute to the etiology of intracranial aneurysms (IAs), and the genetic predisposition of IAs is largely unknown. Our study aimed to explore the role of rare variations in IA susceptibility.… read more here.
Keywords: exome sequencing; mutation cause; sequencing identifies; loxl2 mutation ... See more keywords
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-27951-8
Abstract: Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising… read more here.
Keywords: family; best1 mutations; sequencing identifies; best1 ... See more keywords
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001776
Abstract: A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI).… read more here.
Keywords: whole genome; west syndrome; rapid whole; sequencing identifies ... See more keywords
Whole‐genome sequencing identifies new candidate genes for nonobstructive azoospermia
Sign Up to like & getrecommendations! Published in 2022 at "Andrology"
DOI: 10.1111/andr.13269
Abstract: Genetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established. read more here.
Keywords: nonobstructive azoospermia; genome sequencing; identifies new; sequencing identifies ... See more keywords
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive
Sign Up to like & getrecommendations! Published in 2017 at "F1000Research"
DOI: 10.12688/f1000research.12102.1
Abstract: Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene… read more here.
Keywords: exome sequencing; identifies novel; sequencing identifies; autosomal recessive ... See more keywords
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.919996
Abstract: Epilepsy is a neurological disorder described as recurrent seizures mild to severe convulsions along with conscious loss. There are many different genetic anomalies or non-genetic conditions that affect the brain and cause epilepsy. The exact… read more here.
Keywords: whole exome; saudi patients; identifies novel; sequencing identifies ... See more keywords