Lista de obras - Jean Muller - Dominio Público Uruguay

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

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

artículo científico publicado en 2020

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

artículo científico publicado en 2014

A nitrile hydratase in the eukaryote Monosiga brevicollis

artículo científico publicado en 2008

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

artículo científico publicado en 2017

AQUA: automated quality improvement for multiple sequence alignments

artículo científico publicado en 2009

Alström Syndrome: Mutation Spectrum of ALMS1.

artículo científico publicado en 2015

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

artículo científico publicado en 2021

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

artículo científico publicado en 2020

Autosomal mutations and human spermatogenic failure.

artículo científico

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

artículo científico publicado en 2014

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

artículo científico publicado en 2006

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

artículo científico publicado en 2013

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

artículo científico publicado en 2018

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

artículo científico publicado en 2021

DPY19L2 Deletion as a Major Cause of Globozoospermia.

artículo científico publicado en 2011

DPY19L2 deletion as a major cause of globozoospermia

artículo científico publicado en 2011

Defective membrane remodeling in neuromuscular diseases: insights from animal models

artículo científico publicado en 2012

Design and evaluation of Actichip, a thematic microarray for the study of the actin cytoskeleton

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Enterotypes of the human gut microbiome

artículo científico publicado en 2011

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

artículo científico publicado en 2020

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

artículo científico publicado en 2013

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

artículo científico publicado en 2015

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

artículo científico publicado en 2016

Functional and evolutionary insights from the genomes of three parasitoid Nasonia species

artículo científico publicado en 2010

GOAnno: GO annotation based on multiple alignment

artículo científico

Gene expression is altered in the lateral hypothalamus upon activation of the mu opioid receptor

artículo científico publicado en 2008

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

artículo científico publicado en 2015

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

artículo científico publicado en 2018

Genetic evaluation of patients with non-syndromic male infertility

article

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

artículo científico publicado en 2012

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

artículo científico publicado en 2020

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

artículo científico publicado en 2013

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

artículo científico publicado en 2011

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

scientific article published on 01 April 2020

ICDS database: interrupted CoDing sequences in prokaryotic genomes

artículo científico publicado en 2006

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

artículo científico publicado en 2010

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

artículo científico publicado en 2007

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

artículo científico publicado en 2016

Identifying single copy orthologs in Metazoa

artículo científico publicado en 2011

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

artículo científico publicado en 2017

KD4v: Comprehensible Knowledge Discovery System for Missense Variant

artículo científico publicado en 2012

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder

artículo científico publicado en 2013

MSV3d: database of human MisSense Variants mapped to 3D protein structure

artículo científico publicado en 2012

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

artículo científico publicado en 2013

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

artículo científico publicado en 2015

Mu-opioid receptor activation induces transcriptional plasticity in the central extended amygdala.

artículo científico

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

artículo científico publicado en 2019

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

artículo científico publicado en 2011

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

artículo científico publicado en 2015

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

artículo científico publicado en 2012

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

artículo científico publicado en 2019

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

artículo científico publicado en 2014

Orthology prediction methods: a quality assessment using curated protein families

artículo científico publicado en 2011

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

artículo científico publicado en 2010

PLCB3 Loss-of-function Reduces P. aeruginosa-dependent IL-8 Release in Cystic Fibrosis.

artículo científico publicado en 2018

PipeAlign: A new toolkit for protein family analysis

artículo científico publicado en 2003

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

artículo científico publicado en 2006

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

artículo científico publicado en 2020

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

artículo científico publicado en 2019

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Reproduction Function in Male Patients with Bardet Biedl Syndrome

artículo científico publicado en 2020

SCA13 causes dominantly inherited non-progressive myoclonus ataxia

artículo científico publicado en 2017

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

artículo científico

STRING 8--a global view on proteins and their functional interactions in 630 organisms

artículo científico publicado en 2009

Sequence and comparative genomic analysis of actin-related proteins

artículo científico publicado en 2005

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

artículo científico publicado en 2012

Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths

artículo científico publicado en 2015

The Data Use Ontology to streamline responsible access to human biomedical datasets

artículo científico publicado en 2021

The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach

scientific article published on 11 July 2019

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

artículo científico publicado en 2011

The ecoresponsive genome of Daphnia pulex

artículo científico publicado en 2011

Time-resolved analysis of transcriptional events during SNAI1-triggered epithelial to mesenchymal transition

artículo científico publicado en 2009

Transcriptome analysis identifies genes with enriched expression in the mouse central extended amygdala

artículo científico publicado en 2008

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

artículo científico publicado en 2016

VaRank: a simple and powerful tool for ranking genetic variants

artículo científico publicado en 2015

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

artículo científico publicado en 2015

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

[Genetic aspects of male infertility: From bench to clinic]

scientific article published on 01 December 2018

eggNOG v2.0: extending the evolutionary genealogy of genes with enhanced non-supervised orthologous groups, species and functional annotations

artículo científico publicado en 2010

eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges

artículo científico publicado en 2012

eggNOG: automated construction and annotation of orthologous groups of genes

artículo científico publicado en 2007

Lista de obras de Jean Muller

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

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

A nitrile hydratase in the eukaryote Monosiga brevicollis

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

AQUA: automated quality improvement for multiple sequence alignments

Alström Syndrome: Mutation Spectrum of ALMS1.

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

AnnotSV: an integrated tool for structural variations annotation

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Autosomal mutations and human spermatogenic failure.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

DPY19L2 Deletion as a Major Cause of Globozoospermia.

DPY19L2 deletion as a major cause of globozoospermia

Defective membrane remodeling in neuromuscular diseases: insights from animal models

Design and evaluation of Actichip, a thematic microarray for the study of the actin cytoskeleton

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

Enterotypes of the human gut microbiome

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

Functional and evolutionary insights from the genomes of three parasitoid Nasonia species

GOAnno: GO annotation based on multiple alignment

Gene expression is altered in the lateral hypothalamus upon activation of the mu opioid receptor

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

Genetic evaluation of patients with non-syndromic male infertility

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

ICDS database: interrupted CoDing sequences in prokaryotic genomes

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

Identifying single copy orthologs in Metazoa

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

KD4v: Comprehensible Knowledge Discovery System for Missense Variant

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder

MSV3d: database of human MisSense Variants mapped to 3D protein structure

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

Mu-opioid receptor activation induces transcriptional plasticity in the central extended amygdala.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

Orthology prediction methods: a quality assessment using curated protein families

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

PLCB3 Loss-of-function Reduces P. aeruginosa-dependent IL-8 Release in Cystic Fibrosis.

PipeAlign: A new toolkit for protein family analysis

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Reproduction Function in Male Patients with Bardet Biedl Syndrome

SCA13 causes dominantly inherited non-progressive myoclonus ataxia

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

STRING 8--a global view on proteins and their functional interactions in 630 organisms

Sequence and comparative genomic analysis of actin-related proteins

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths

The Data Use Ontology to streamline responsible access to human biomedical datasets

The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

The ecoresponsive genome of Daphnia pulex