Emma M. Wade
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View article: NANOME: A Nextflow pipeline for haplotype-aware allele-specific consensus DNA methylation detection by nanopore long-read sequencing
NANOME: A Nextflow pipeline for haplotype-aware allele-specific consensus DNA methylation detection by nanopore long-read sequencing Open
Nanopore long-read sequencing has expanded the capacity of long-range, single-base, and single-molecule DNA-methylation (DNAme) detection and haplotype-aware allele-specific epigenetic phasing. Previously, we benchmarked and ranked the rob…
View article: Polygenic and developmental profiles of autism differ by age at diagnosis
Polygenic and developmental profiles of autism differ by age at diagnosis Open
Although autism has been historically conceptualised as a condition that emerges in early childhood, many autistic people are diagnosed later in life. It is unknown whether earlier and later diagnosed autism have different developmental tr…
View article: Idiopathic juvenile osteoporosis—a polygenic disorder?
Idiopathic juvenile osteoporosis—a polygenic disorder? Open
Idiopathic juvenile osteoporosis (IJO) is a rare condition presenting with vertebral and metaphyseal fractures that affects otherwise healthy prepubertal children. Bone mineral density (BMD) measurements are very low. The primary problem a…
View article: TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development Open
Summary Transforming Growth Factor-Beta-Activated Kinase 1 (TAK1/MAP3K7), along with its upstream regulators TAK1-Binding Protein 2 (TAB2) and the catalytic alpha-subunit of Protein Kinase A (PKA-Cα/PRKACA), has been identified as a pivota…
View article: FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function Open
Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that und…
View article: <i>FLNA</i>-Filaminopathy Skeletal Phenotypes are Not Due to an Osteoblast Autonomous Loss-of-Function
<i>FLNA</i>-Filaminopathy Skeletal Phenotypes are Not Due to an Osteoblast Autonomous Loss-of-Function Open
View article: Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia Open
Pulmonary acinar hypoplasia (PAH) and lacrimo-auriculo-dento-digital (LADD) syndrome have both been associated with loss-of-function variants in, or deletions of FGF10. Here we report a multi-generational family with seven members manifest…
View article: Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome Open
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reporte…
View article: Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis Open
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with m…
View article: Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity Open
View article: Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity Open
View article: Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy Open
View article: Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype Open
View article: Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype Open
Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD‐FMD) caused by mutations in MAP3K7 , whic…
View article: Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia Open