Ange-Line Bruel
Bruel, Ange-Line, 1989-....
VIAF ID: 227151302914448660489 (Personal)
Permalink: http://viaf.org/viaf/227151302914448660489
Preferred Forms
- 100 0 _ ‡a Ange-Line Bruel
- 100 1 _ ‡a Bruel, Ange-Line, ‡d 1989-....
4xx's: Alternate Name Forms (3)
Works
Title | Sources |
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2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases | |
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. | |
Apport du séquençage nouvelle génération dans l'identification des bases moléculaires impliquées dans les anomalies du développement d'expression anténatale | |
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 | |
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery | |
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. | |
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease. | |
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 | |
DNA next generation sequencing to identify genetics abnormalities involved in developmental disorders with prenatal onset. | |
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature | |
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. | |
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency | |
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 | |
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations | |
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects | |
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. | |
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans | |
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? | |
Identification des bases moléculaires et physiopathologiques des syndromes oro-facio-digitaux | |
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 | |
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 | |
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 | |
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant | |
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 | |
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation | |
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature | |
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance | |
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. | |
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation | |
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. | |
An siRNA-based screen in C2C12 myoblasts identifies novel genes involved in myogenic differentiation. | |
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 | |
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 |