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Congenital diaphragmatic hernias: from genes to mechanisms to therapies.
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Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome.
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Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.
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Analysis of protein-coding genetic variation in 60,706 humans.
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Wolf-Hirschhorn syndrome: A review and update.
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The NSD family of protein methyltransferases in human cancer.
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C-terminal binding proteins: central players in development and disease.
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The FgfrL1 receptor is required for development of slow muscle fibers.
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
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