Etiqueta: AmJHumGenet
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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
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Measuring disease likelihood in genomic ascertainment
In this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
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Measuring disease likelihood in genomic ascertainment
In this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
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Measuring disease likelihood in genomic ascertainment
In this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
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Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank
We show that neurodevelopmental copy-number variants increase the risk of internalizing-cardiometabolic multimorbidity in an older-age population-based cohort. This highlights the clinical relevance of rare genomic variation for multimorbidity risk. Ef…
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Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank
We show that neurodevelopmental copy-number variants increase the risk of internalizing-cardiometabolic multimorbidity in an older-age population-based cohort. This highlights the clinical relevance of rare genomic variation for multimorbidity risk. Ef…
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics 112, 2643–2664; November 6, 2025
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics 112, 2643–2664; November 6, 2025