Etiqueta: AmJHumGenet
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
De novo variants in LDB1 were linked to distinct neurodevelopmental disorders (NDDs). N-terminal missense and truncating variants lead to loss of function and variable NDDs without brain anomalies, and C-terminal missense or truncating variants act thr…
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
De novo variants in LDB1 were linked to distinct neurodevelopmental disorders (NDDs). N-terminal missense and truncating variants lead to loss of function and variable NDDs without brain anomalies, and C-terminal missense or truncating variants act thr…
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Complete chromosome 21 centromere sequencing of families with Down syndrome
This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two maternal chromosome 21 centromeres in a subset of families…
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Complete chromosome 21 centromere sequencing of families with Down syndrome
This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two maternal chromosome 21 centromeres in a subset of families…
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Genome-wide analysis implicates inner ear development in Ménière disease
A genome-wide association study of Ménière disease across five biobanks identifies genome-wide significant associations at EYA4, EYA1, and CYP26A1. These genes regulate inner ear development and retinoic acid signaling, establishing a genetic framework…
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Genome-wide analysis implicates inner ear development in Ménière disease
A genome-wide association study of Ménière disease across five biobanks identifies genome-wide significant associations at EYA4, EYA1, and CYP26A1. These genes regulate inner ear development and retinoic acid signaling, establishing a genetic framework…
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Trust, mistrust, and the promise of AI in genomics for African populations
Gaye, Bonham, and Mersha argue that trustworthy AI in African genomics requires representative African datasets, transparent and validated models, African-led governance, local capacity, and culturally grounded community engagement so that AI reduces, …
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Trust, mistrust, and the promise of AI in genomics for African populations
Gaye, Bonham, and Mersha argue that trustworthy AI in African genomics requires representative African datasets, transparent and validated models, African-led governance, local capacity, and culturally grounded community engagement so that AI reduces, …
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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data from affected individuals and mouse model experiments …
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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data from affected individuals and mouse model experiments …