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Publications by Sebastien Küry
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
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De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
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De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
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De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
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Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
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PUS3 Mutations Are Associated With Intellectual Disability, Leukoencephalopathy, and Nephropathy
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Origin of JC Polyomavirus Variants Associated With Progressive Multifocal Leukoencephalopathy.
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Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
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