Lista de obras - Ange-Line Bruel - Dominio Público Uruguay

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

article

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

artículo científico publicado en 2018

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

scientific article published on 01 October 2018

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.

artículo científico publicado en 2017

An siRNA-based screen in C2C12 myoblasts identifies novel genes involved in myogenic differentiation.

artículo científico publicado en 2017

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

artículo científico publicado en 2016

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

artículo científico publicado en 2016

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

artículo científico publicado en 2016

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

scientific article published on 26 March 2020

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

artículo científico publicado en 2017

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

artículo científico publicado en 2017

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

artículo científico publicado en 2016

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

artículo científico publicado en 2018

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

artículo científico publicado en 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

artículo científico publicado en 2020

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

artículo científico publicado en 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

artículo científico publicado en 2019

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

artículo científico publicado en 2016

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

scientific article published on 10 April 2020

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

artículo científico publicado en 2016

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

artículo científico publicado en 2017

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

artículo científico publicado en 2017

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

artículo científico publicado en 2020

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

scientific article published on 09 May 2019

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

artículo científico publicado en 2020

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

artículo científico publicado en 2020

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

artículo científico publicado en 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

scientific article published on 28 November 2017

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

scientific article published on 23 June 2019

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

artículo científico publicado en 2020

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

scientific article published on 14 April 2020

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

artículo científico publicado en 2018

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

artículo científico publicado en 2016

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects ⬇️

journal article from 'Human Genetics' published in 2022

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

artículo científico publicado en 2021

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

scientific article published on 05 December 2020

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

artículo científico publicado en 2020

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

scientific article published on 26 April 2020

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

scientific article published on 18 January 2020

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

artículo científico publicado en 2015

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

artículo científico publicado en 2017

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

artículo científico

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

artículo científico publicado en 2020

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

scientific article published on 24 April 2019

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

artículo científico publicado en 2018

Severe X-linked chondrodysplasia punctata in nine new female fetuses

artículo científico publicado en 2015

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

artículo científico publicado en 2021

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

artículo científico publicado en 2018

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

artículo científico publicado en 2016

The different clinical facets of SYN1-related neurodevelopmental disorders

artículo científico publicado en 2022

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

artículo científico publicado en 2023

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

artículo científico publicado en 2018

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

artículo científico publicado en 2014

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

artículo científico publicado en 2018

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

artículo científico publicado en 2018

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

scientific article published on 30 April 2019

Lista de obras de Ange-Line Bruel

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

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

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.

An siRNA-based screen in C2C12 myoblasts identifies novel genes involved in myogenic differentiation.

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

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

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

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

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects ⬇️

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

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

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

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

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

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

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

Severe X-linked chondrodysplasia punctata in nine new female fetuses

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

The different clinical facets of SYN1-related neurodevelopmental disorders

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

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