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Machine learning approaches to explore digenic inheritance
Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by
the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To …
the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To …
[HTML][HTML] The Cardiofaciocutaneous syndrome: from genetics to prognostic–therapeutic implications
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by
multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe …
multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe …
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …
High-impact rare genetic variants in severe schizophrenia
Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …
variants for many complex disorders but has not been applied to studies of severe …
Voltage‐gated calcium channels in genetic epilepsies
Voltage‐gated calcium channels (VGCC) are abundant in the central nervous system and
serve a broad spectrum of functions, either directly in cellular excitability or indirectly to …
serve a broad spectrum of functions, either directly in cellular excitability or indirectly to …
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on … - MedRxiv, 2022 - medrxiv.org
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here, we report a trans-ethnic GWAS …
about one-third are resistant to current treatments. Here, we report a trans-ethnic GWAS …
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Nature neuroscience, 2024 - nature.com
Identifying genetic risk factors for highly heterogeneous disorders such as epilepsy remains
challenging. Here we present, to our knowledge, the largest whole-exome sequencing study …
challenging. Here we present, to our knowledge, the largest whole-exome sequencing study …
[HTML][HTML] Technological and computational approaches to detect somatic mosaicism in epilepsy
Lesional epilepsy is a common and severe disease commonly associated with
malformations of cortical development, including focal cortical dysplasia and …
malformations of cortical development, including focal cortical dysplasia and …
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation
KE Joyce, E Onabanjo, S Brownlow, F Nur… - Blood …, 2022 - ashpublications.org
The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often
cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the …
cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the …
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant
epilepsy in early life. The development of novel surgical techniques has permitted the …
epilepsy in early life. The development of novel surgical techniques has permitted the …