Results 111 to 120 of about 127,509 (268)
Exome Sequencing in Every Pregnancy? Results of Trio Exome Sequencing in Structurally Normal Fetuses
Obstetrical & Gynecological Survey(Abstracted from Prenat Diagn 2025;45:276–286) Prenatal exome sequencing (pES) is a genetic test that can identify single-nucleotide variants and other small mutations not detected by chromosomal microarray analysis (CMA). Diagnostic accuracy and turnaround time improve with trio analysis, which compares exome sequences from the mother ...
Michal Levy +9 more
openaire +2 more sources
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting
Frontiers in GeneticsIntroductionA trio analysis refers to the strategy of exome or genome sequencing of DNA from a patient, as well as parents, in order to identify the genetic cause of a disorder or syndrome.MethodsDuring the last 10 years, we have successfully applied ...
Helena Malmgren +63 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
ВАРИАНТЫ В ГЕНАХ ДЛИННЫХ НЕКОДИРУЮЩИХ РНК ПРИ ПАРАГАНГЛИОМАХ ГОЛОВЫ И ШЕИ
Journal of Bioinformatics and GenomicsГеномы опухолевых клеток имеют большое число генетических вариантов, которые включают как мутации-драйверы, так и нейтральные мутации-пассажиры. Идентификация драйверных нарушений является важным этапом на пути к пониманию механизмов злокачественной ...
Снежкина А.В. +7 more
doaj +1 more source
Trio Exome Sequencing in VACTERL Association
Kidney International ReportsCurrently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association. The aim of this study was to extend the spectrum of disease-causing variants in known genes, to determine the diagnostic ...
Jasmina Ćomić +29 more
openaire +5 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley +1 more source