High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec… - The American Journal of …, 2021 - cell.com
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …
such disorders are secondary to perturbation in brain development and/or function. The …
Clinical genomics and contextualizing genome variation in the diagnostic laboratory
Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …
biological homeostasis of the human organism and the genetic transmission of traits …
Clan genomics: From OMIM phenotypic traits to genes and biology
JR Lupski - American Journal of Medical Genetics Part A, 2021 - Wiley Online Library
Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Homozygous duplications contribute to genetic disease by altering gene dosage or
disrupting gene regulation and can be more deleterious to organismal biology than …
disrupting gene regulation and can be more deleterious to organismal biology than …
The role of chromosomal microarray and exome sequencing in prenatal diagnosis
Data suggest exome sequencing for SNVs and CMA for CNV detection are the most
effective approach for prenatal genetic diagnosis. Emerging evidences show genome …
effective approach for prenatal genetic diagnosis. Emerging evidences show genome …
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
X Chen, Y Jiang, R Chen, Q Qi, X Zhang… - Journal of translational …, 2022 - Springer
Background Birth defects are responsible for approximately 7% of neonatal deaths
worldwide by World Health Organization in 2004. Many methods have been utilized for …
worldwide by World Health Organization in 2004. Many methods have been utilized for …
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Background Current clinical testing methods used to uncover the genetic basis of rare
disease have inherent limitations, which can lead to causative pathogenic variants being …
disease have inherent limitations, which can lead to causative pathogenic variants being …
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Background Despite the availability of whole exome (WES) and genome sequencing (WGS),
chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders …
chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders …
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
The histone H3 variant H3. 3, encoded by two genes H3-3A and H3-3B, can replace
canonical isoforms H3. 1 and H3. 2. H3. 3 is important in chromatin compaction, early …
canonical isoforms H3. 1 and H3. 2. H3. 3 is important in chromatin compaction, early …
[HTML][HTML] Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for …
CA Chen, J Lattier, W Zhu, J Rosenfeld, L Wang… - Genetics in …, 2022 - Elsevier
Purpose BRG1/BRM-associated factor (BAF) complex is a chromatin remodeling complex
that plays a critical role in gene regulation. Defects in the genes encoding BAF subunits lead …
that plays a critical role in gene regulation. Defects in the genes encoding BAF subunits lead …