David B. Everman
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View article: Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup Open
Objective Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association—Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors …
View article: PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation Open
Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown. Through whole-exome and targeted sequencing, we detected three novel variants i…
View article: PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in Split Hand/Foot Malformation
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in Split Hand/Foot Malformation Open
Split Hand/Foot Malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many patients, the genetic etiology is unknown. Through whole exome and targeted sequencing, we detected three novel variants in a…
View article: <i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance
<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance Open
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until…
View article: Structural model of human PORCN illuminates disease-associated variants and drug-binding sites
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites Open
Wnt signaling is essential for normal development and is a therapeutic target in cancer. The enzyme PORCN, or porcupine, is a membrane-bound O-acyltransferase (MBOAT) that is required for the post-translational modification of all Wnts, ad…
View article: Structural model of PORCN illuminates disease-associated variants and drug binding sites
Structural model of PORCN illuminates disease-associated variants and drug binding sites Open
Wnt signaling is essential for normal development and is a therapeutic target in cancer. The enzyme PORCN, or porcupine, is a membrane-bound O-acyltransferase (MBOAT) that is required for the post-translational modification of all Wnts, ad…
View article: Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Open
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutatio…
View article: Activating variants in <scp><i>PDGFRB</i></scp> result in a spectrum of disorders responsive to imatinib monotherapy
Activating variants in <span><i>PDGFRB</i></span> result in a spectrum of disorders responsive to imatinib monotherapy Open
More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging…
View article: <i>BAZ2B</i> haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
<i>BAZ2B</i> haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder Open
The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely t…
View article: MEF2C hypofunction in neuronal and neuroimmune populations cooperate to produce MEF2C haploinsufficiency syndrome-like behaviors in mice
MEF2C hypofunction in neuronal and neuroimmune populations cooperate to produce MEF2C haploinsufficiency syndrome-like behaviors in mice Open
Summary Microdeletions of the MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency syndrome (MCHS). Here, we show that MCHS-associated missense mutations cluster in the conserved DNA binding domain and disrup…
View article: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size Open
The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point t…
View article: RIT1 oncoproteins escape LZTR1-mediated proteolysis
RIT1 oncoproteins escape LZTR1-mediated proteolysis Open
Defective degradation as disease mechanism Ubiquitination often targets proteins for destruction. Castel et al. describe a mechanism by which mutations in the small guanine triphosphatase RIT1 may act to cause certain developmental disorde…
View article: Cornelia de Lange syndrome in diverse populations
Cornelia de Lange syndrome in diverse populations Open
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes— NIPBL , SMC1A , HDAC8 , SMC3 , and RAD21 . The characteristic facial dysmorphisms include microcephaly, arched eyebrows, sy…
View article: Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Additional file 2: of Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome Open
Table S1. CpG sites differentially methylated between ADNP-1 and controls. Table S2. CpG sites differentially methylated between ADNP-2 and controls. Table S3. Differentially methylated regions in ADNP-1. Table S4. Differentially methylate…
View article: A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes Open
Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) are related heterotetrameric complexes that associate with the cytosolic face of the trans-Golgi network and recycling endosomes, respectively. At …
View article: Cover Image, Volume 39, Issue 12
Cover Image, Volume 39, Issue 12 Open
On the Front Cover: This cover image is based on the Research Article The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function by Martina Proietti Onori et al., Pages 2008–2024. DOI: 10.1002/…
View article: A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes
A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes Open
GARP and EARP are related heterotetrameric protein complexes that associate with the cytosolic face of the trans -Golgi network and recycling endosomes, respectively. At these locations, GARP and EARP function to promote the fusion of endo…
View article: The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function Open
The abundantly expressed calcium/calmodulin-dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation. Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma …