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The neurobehavioral and molecular phenotype of Angelman Syndrome

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2623-2628

2015

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Genetic Testing for the Diagnosis of Hemoglobinopathies Has Very High Clinical Utility

Blood, 2015-12, Vol.126 (23), p.524-524

2015

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The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis

Blood, 2015-12, Vol.126 (23), p.941-941

2015

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

American journal of human genetics, 2018-08, Vol.103 (2), p.221-231

2018

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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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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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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Acta neuropathologica, 2020-04, Vol.139 (4), p.791-794

2020

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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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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Nature genetics, 2017-10, Vol.49 (10), p.1529-1538

2017

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

American journal of human genetics, 2020-03, Vol.106 (3), p.405-411

2020

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Genetics in medicine, 2021-02, Vol.23 (2), p.384-395

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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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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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

American journal of human genetics, 2020-03, Vol.106 (3), p.412-421

2020

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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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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558

2021

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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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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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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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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

American journal of human genetics, 2024-05, Vol.111 (5), p.996-996

2024

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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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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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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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The neurobehavioral and molecular phenotype of Angelman Syndrome

Genetic Testing for the Diagnosis of Hemoglobinopathies Has Very High Clinical Utility

The Spectrum of Alpha-Spectrin Associated Hereditary Spherocytosis

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

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

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

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

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

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

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

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

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

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

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

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

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

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

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