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Publications by Jacqueline Leonard
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing
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De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
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