Results 81 to 90 of about 118,150 (263)
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
Unexpected perinatal death caused by an occult MTM1 mutation: a case report
Frontiers in MedicineBackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu +11 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
doaj +1 more source
Obstetrics and Gynecology Clinics of North America, 2018 Angie C. Jelin, Neeta Vora
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source