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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353

2021

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368

2021

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human genetics, 2021-07, Vol.140 (7), p.1109-1120

2021

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Genetics in medicine, 2019-04, Vol.21 (4), p.1008-1014

2019

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Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

Genetics in medicine, 2019-11, Vol.21 (11), p.2504-2511

2019

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.111-116

2022

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A Mobile Application for Exercise Intervention in People Living with HIV

Medicine and science in sports and exercise, 2020-02, Vol.52 (2), p.425-433

2020

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Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother

Stem cell research, 2021-05, Vol.53, p.102311-102311, Article 102311

2021

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

American journal of human genetics, 2019-04, Vol.104 (4), p.721-730

2019

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

American journal of human genetics, 2021-03, Vol.108 (3), p.502-516

2021

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

American journal of human genetics, 2021-02, Vol.108 (2), p.346-356

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, 2018-05, Vol.102 (5), p.995-1007

2018

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

American journal of human genetics, 2020-07, Vol.107 (1), p.164-172

2020

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

American journal of human genetics, 2023-05, Vol.110 (5), p.790-808

2023

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American journal of human genetics, 2019-08, Vol.105 (2), p.403-412

2019

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1519-1531

2019

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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Genetics in medicine, 2024-05, Vol.26 (5), p.101087, Article 101087

2024

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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3540-3545

2022

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Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-03, Vol.184 (1), p.129-135

2020

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

American journal of human genetics, 2020-12, Vol.107 (6), p.1170-1177

2020

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

American journal of human genetics, 2019-03, Vol.104 (3), p.542-552

2019

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

A Mobile Application for Exercise Intervention in People Living with HIV

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

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