Addie I. Nesbitt
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View article: A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening Open
View article: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis Open
View article: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis Open
View article: Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Open
View article: Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Open
View article: Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila Open
View article: De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Open
View article: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Open
View article: WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features Open
View article: Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> Open
This work demonstrates that identification of novel monogenic neurologic disorders and observation of response to targeted therapeutics can provide important insights into human nervous system functioning.
View article: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Open
We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances, and slow and asymmetric waves…
View article: Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Open