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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American journal of human genetics, 2019-05, Vol.104 (5), p.815-834

2019

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Acta neuropathologica, 2020-03, Vol.139 (3), p.415-442

2020

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Genetics in medicine, 2021-03, Vol.23 (3), p.543-554

2021

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

American journal of human genetics, 2018-06, Vol.102 (6), p.1104-1114

2018

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1081-1089

2019

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279

2021

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Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Brain (London, England : 1878), 2022-09, Vol.145 (9), p.3308-3327

2022

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719

2016

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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1373-1387

2023

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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Bone (New York, N.Y.), 2019-04, Vol.121, p.163-171

2019

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in medicine, 2021-04, Vol.23 (4), p.740-750

2021

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Genetics in medicine, 2019-03, Vol.21 (3), p.601-607

2019

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Nature communications, 2020-01, Vol.11 (1), p.595-595, Article 595

2020

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

American journal of human genetics, 2021-10, Vol.108 (10), p.2006-2016

2021

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

American journal of human genetics, 2023-01, Vol.110 (1), p.120-145

2023

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American journal of human genetics, 2018-10, Vol.103 (4), p.631-631

2018

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American journal of human genetics, 2018-05, Vol.102 (5), p.995-1007

2018

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

American journal of human genetics, 2021-09, Vol.108 (9), p.1669-1691

2021

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

American journal of human genetics, 2023-03, Vol.110 (3), p.548-548

2023

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

American journal of human genetics, 2020-06, Vol.106 (6), p.830-845

2020

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Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Blood cells, molecules, & diseases, 2021-12, Vol.92, p.102596-102596, Article 102596

2021

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American journal of human genetics, 2016-06, Vol.98 (6), p.1235-1242

2016

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

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

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

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