Demographic details of the 10 patients included in the whole exome sequencing study
, 2016 Demographic details of the 10 patients included in the whole exome sequencing ...
Poulami Das (150956) +7 more
core +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Whole exome sequencing in a family with thromboangiitis obliterans
Bleeding, Thrombosis and Vascular BiologyLow-frequency candidates for susceptibility to thromboangiitis obliterans (TAO) were investigated by whole exome sequencing in a family with a young member with migrating thrombophlebitis, artery thrombosis, and ulcerations followed by below-knee ...
Barbara Lunghi +9 more
doaj +1 more source
Clinicobiological features of the 11 EBV+ DLBCL patients analyzed by whole-exome sequencing (WES).
, 2018 Clinicobiological features of the 11 EBV+ DLBCL patients analyzed by whole-exome sequencing (WES).
Xiaoge Zhou (5628638) +8 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing
<p>Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing supplementary tables.</p ...
zhao, xiaochao
core +1 more source
Details of discordant variants from whole genome and exome sequencing data.
, 2014 Details of discordant variants from whole genome and exome sequencing data.
Pongsathorn Chaiyasap (580996) +5 more
core +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source
Pedigrees of the four Tunisian families analyzed using the whole exome sequencing strategy.
, 2014 Pedigrees of the four Tunisian families analyzed using the whole exome sequencing strategy.
Nadia Laroussi (578138) +18 more
core +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source