Lista de obras - J Thevenon - Dominio Público Uruguay

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

artículo científico publicado en 2012

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

artículo científico publicado en 2013

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

artículo científico publicado en 2013

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

artículo científico publicado en 2015

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

artículo científico publicado en 2015

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

artículo científico publicado en 2017

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

artículo científico publicado en 2015

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

artículo científico publicado en 2016

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation ⬇️

artículo científico publicado el 2 de abril de 2013

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 mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

artículo científico publicado en 2016

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

artículo científico publicado en 2014

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

artículo científico publicado en 2016

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

artículo científico publicado en 2015

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

Cohen syndrome is associated with major glycosylation defects

artículo científico publicado en 2013

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

artículo científico publicado en 2015

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

artículo científico publicado en 2013

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

artículo científico publicado en 2011

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

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

artículo científico publicado en 2014

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

artículo científico publicado en 2016

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

artículo científico publicado en 2014

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

scientific article published on 01 February 2019

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

artículo científico publicado en 2013

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

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis

artículo científico publicado en 2014

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

artículo científico publicado en 2015

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

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

artículo científico publicado en 2015

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

artículo científico publicado en 2015

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

scientific article published on 23 June 2019

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

artículo científico publicado en 2017

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

artículo científico publicado en 2014

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

artículo científico publicado en 2016

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

artículo científico publicado en 2013

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

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

artículo científico

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

artículo científico publicado en 2019

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease

artículo científico publicado en 2016

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

artículo científico publicado en 2017

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

Severe X-linked chondrodysplasia punctata in nine new female fetuses

artículo científico publicado en 2015

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

artículo científico publicado en 2015

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

artículo científico publicado en 2012

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

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

artículo científico publicado en 2016

Lista de obras de J Thevenon

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

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

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation ⬇️

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

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

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

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

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

Cohen syndrome is associated with major glycosylation defects

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

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

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

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

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

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

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

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

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

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

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

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

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

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

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

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

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?