Results 101 to 110 of about 1,021,105 (352)
Prenatal Diagnosis, 2020 The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.
Chantal Deden +23 more
semanticscholar +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD [PDF]
, 2023 Claudia Strafella +12 more
openalex +1 more source
npj Genomic Medicine, 2018 Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established.
Michelle M. Clark +6 more
semanticscholar +1 more source
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, 2020 Purpose Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging.
A. Töpf +99 more
semanticscholar +1 more source
Advanced Science, EarlyView.This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang +15 more
wiley +1 more source
npj Genomic Medicine, 2021 Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array ...
Francisco Martinez-Granero +14 more
doaj +1 more source
Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7 [PDF]
, 2023 Koji Obara, Erika Abe, Itaru Toyoshima
openalex +1 more source
Limitations of exome sequencing in detecting rare and undiagnosed diseases
American Journal of Medical Genetics. Part A, 2020 While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of genetic tests beyond ES in our Undiagnosed Diseases Network (UDN ...
Kendall J. Burdick +16 more
semanticscholar +1 more source