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Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis
(2018)
Abstract:
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2- like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional ...
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
(2018-02-22)
Abstract:
Mutations withinSTXBP1have been associated with a range of neuro developmental disorder simplicating the pleotropic impact of this gene. Although the frequency of de novo mutations withinSTXBP1for selective ...
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
(2018-04-26)
Abstract:
Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. ...
Utility of clinical exome sequencing in a complex Emirati pediatric cohort
(2020)
Abstract: Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the ...
Effect of Common Medications on the Expression of SARS-CoV-2 Entry Receptors in Kidney Tissue
(2020)
Abstract: Besides the respiratory system, severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection was shown to affect other essential organs such as the kidneys. Early kidney involvement during the course ...
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
(2019-04-26)
Abstract:
De novo loss-of-function (LoF) variants in theKMT2Agene are associated with Wiedemann−Steiner Syndrome (WSS). Recently, de novo KMT2 Avariants have been identified in sequencing studies of cohorts of individuals ...
Multiple early introductions of SARS‑CoV‑2 into a global travel hub in the Middle East
(2020)
Abstract:
International travel played a significant role in the early global spread of SARS-CoV-2. Understanding transmission patterns from different regions of the world will further inform global dynamics of the pandemic. ...
Antibody-drug conjugate T-DM1 treatment for HER2+ breast cancer induces ROR1 and confers resistance through activation of Hippo transcriptional coactivator YAP1
(2019-05-10)
Background:
A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast cancer (BC) patients. Despite an impressive initial clinical response, a subgroup of patient develop resistance and ...
Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes
(2021)
Abstract:
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis and management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal ...
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
(2020)
Publisher Correction:
In the version of this article initially published, in Fig. 2a, zeros were omitted from the y-axis labels on the histogram. They should read, from bottom to top: 0.01, 0.02, 0.03, 0.04, 0.05, 0.06, ...