Evan H. Baugh
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View article: Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Open
View article: Table of Contents
Table of Contents Open
View article: Monoallelic variation in<i>DHX9</i>, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Monoallelic variation in<i>DHX9</i>, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Open
DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting …
View article: A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network Open
View article: Table of Contents
Table of Contents Open
View article: Ancestry adjustment improves genome-wide estimates of regional intolerance
Ancestry adjustment improves genome-wide estimates of regional intolerance Open
Genomic regions subject to purifying selection are more likely to carry disease-causing mutations than regions not under selection. Cross species conservation is often used to identify such regions but with limited resolution to detect sel…
View article: Ancestry adjustment improves genome-wide estimates of regional intolerance
Ancestry adjustment improves genome-wide estimates of regional intolerance Open
Genomic regions subject to purifying selection are more likely to carry disease causing mutations than regions not under selection. Cross species conservation is often used to identify such regions but with limited resolution to detect sel…
View article: Ancestry adjustment improves genome-wide estimates of regional intolerance
Ancestry adjustment improves genome-wide estimates of regional intolerance Open
Genomic regions subject to purifying selection are more likely to carry disease causing mutations than regions not under selection. Cross species conservation is often used to identify such regions but with limited resolution to detect sel…
View article: eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort
eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort Open
View article: Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Open
View article: Table of Contents
Table of Contents Open
What are the effects of individualized diet fortifi cation for growth and development in infants born preterm receiving
View article: Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis Open
View article: Genetic testing in individuals with cerebral palsy
Genetic testing in individuals with cerebral palsy Open
AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing, we compared the rate of likely causative genetic variants from whole‐exome sequencing in individuals with and without environmental risk factors. METH…
View article: Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders Open
View article: <i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity Open
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported …
View article: Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease Open
View article: Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder Open
View article: Ancestry adjustment improves genome-wide estimates of regional intolerance
Ancestry adjustment improves genome-wide estimates of regional intolerance Open
Genomic regions subject to purifying selection are more likely to carry disease causing mutations. Cross species conservation is often used to identify such regions but has limited resolution to detect selection on short evolutionary times…
View article: Pre-detection history of extensively drug-resistant tuberculosis in KwaZulu-Natal, South Africa
Pre-detection history of extensively drug-resistant tuberculosis in KwaZulu-Natal, South Africa Open
Antimicrobial-resistant (AMR) infections pose a major threat to global public health. Similar to other AMR pathogens, both historical and ongoing drug-resistant tuberculosis (TB) epidemics are characterized by transmission of a limited num…
View article: SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder Open
Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, ass…
View article: <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes
<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes Open
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated…
View article: Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy
Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy Open
Objective Somatic variants are a recognized cause of epilepsy‐associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including nonlesional focal epi…
View article: Why are there hotspot mutations in the TP53 gene in human cancers?
Why are there hotspot mutations in the TP53 gene in human cancers? Open
View article: Role of <i><scp>WNT</scp>10A</i> in failure of tooth development in humans and zebrafish
Role of <i><span>WNT</span>10A</i> in failure of tooth development in humans and zebrafish Open
Background Oligodontia is a severe form of tooth agenesis characterized by the absence of six or more permanent teeth. Oligodontia has complex etiology and variations in numerous genes have been suggested as causal for the condition. Metho…
View article: Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis Open
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology.…
View article: Robust classification of protein variation using structural modelling and large-scale data integration
Robust classification of protein variation using structural modelling and large-scale data integration Open
Existing methods for interpreting protein variation focus on annotating mutation pathogenicity rather than detailed interpretation of variant deleteriousness and frequently use only sequence-based or structure-based information. We present…
View article: Influence of surface charge, binding site residues and glycosylation on Thielavia terrestris cutinase biochemical characteristics
Influence of surface charge, binding site residues and glycosylation on Thielavia terrestris cutinase biochemical characteristics Open
View article: Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data Integration
Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data Integration Open
Existing methods for interpreting protein variation focus on annotating mutation pathogenicity rather than detailed interpretation of variant deleteriousness and frequently use only sequence-based or structure-based information. We present…