Stanislas LYONNET | Institut Imagine

Présentation

Pr, Ancien directeur Imagine (2016-2024)

Stanislas LYONNET

Génétique des anomalies du développement

Contact :

01 42 75 49 96

stanislas.lyonnet@inserm.fr

À propos

Publications scientifiques

Publications

2026

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC
2025

Criss cross heart: an outflow tract defect?, Springer Science and Business Media LLC
2025

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A
2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, mot..., Am J Hum Genet
2025

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab
2024

Artificial intelligence‐based diagnosis in fetal pathology using external ear..., Wiley
2024

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep
2023

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
2023

Determinants of dental care use in patients with rare diseases: a qualitative..., BMC Oral Health
2023

An automatic facial landmarking for children with rare diseases., Am J Med Genet A
2022

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley
2022

Consideration of oral health in rare disease expertise centres: a retrospecti..., Orphanet J Rare Dis
2022

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A
2022

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A
2022

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Su..., Front Pharmacol
2021

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning Durin..., Front Mol Neurosci
2021

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol
2021

Bi-allelic variants in IPO8 cause a connective tissue disorder associated wit..., Am J Hum Genet
2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec..., Am J Hum Genet
2021

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl..., Blood
2021

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g..., J Clin Invest
2020

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet
2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet
2020

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med
2020

Diagnosis support systems for rare diseases: a scoping review., Orphanet J Rare Dis
2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa..., Brain
2019

Comment on: Monogenic mimics of Behçet's disease in the young., Rheumatology (Oxford)
2019

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping., J Biomed Inform
2019

PAICS deficiency, a new defect of de novo purine synthesis resulting in multi..., Hum Mol Genet
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2018

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin
2018

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2017

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2017

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet
2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet
2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a..., Nat Genet
2016

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet
2016

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat
2016

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet
2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2016

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec..., Am J Hum Genet
2015

MMP21 is mutated in human heterotaxy and is required for normal left-right as..., Nat Genet
2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet
2015

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ..., Am J Hum Genet
2014

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet
2013

Pathways systematically associated to Hirschsprung's disease., Orphanet J Rare Dis
2013

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin..., Am J Hum Genet
2013

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat
2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet
2012

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet
2012

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i..., Clin Genet
2012

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet
2011

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects..., Nat Genet
2011

Nuclear outsourcing of RNA interference components to human mitochondria., PLoS One
2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet
2009

Epistasis between RET and BBS mutations modulates enteric innervation and cau..., Proc Natl Acad Sci U S A
2009

Evaluation of methods for amplification of picogram amounts of total RNA for ..., BMC Genomics
2009

Highly conserved non-coding elements on either side of SOX9 associated with P..., Nat Genet
2008

Stabilization of RNA during laser capture microdissection by performing exper..., RNA
2008

Somatic and germline activating mutations of the ALK kinase receptor in neuro..., Nature
2005

GeneRetriever: software to extract all genes and transcripts in between two g..., Biotechniques
2005

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly., Am J Med Genet A
1998

SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Springer Science and Business Media LLC

Présentation

À propos

Publications scientifiques

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC

Criss cross heart: an outflow tract defect?, Springer Science and Business Media LLC

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, mot..., Am J Hum Genet

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab

Artificial intelligence‐based diagnosis in fetal pathology using external ear..., Wiley

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA

Determinants of dental care use in patients with rare diseases: a qualitative..., BMC Oral Health

An automatic facial landmarking for children with rare diseases., Am J Med Genet A

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley

Consideration of oral health in rare disease expertise centres: a retrospecti..., Orphanet J Rare Dis

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A

Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Su..., Front Pharmacol

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning Durin..., Front Mol Neurosci

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol

Bi-allelic variants in IPO8 cause a connective tissue disorder associated wit..., Am J Hum Genet

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec..., Am J Hum Genet

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl..., Blood

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g..., J Clin Invest

PRPS1 loss-of-function variants, from isolated hearing loss to severe congeni..., Eur J Med Genet

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med

Diagnosis support systems for rare diseases: a scoping review., Orphanet J Rare Dis

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa..., Brain

Comment on: Monogenic mimics of Behçet's disease in the young., Rheumatology (Oxford)

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping., J Biomed Inform

PAICS deficiency, a new defect of de novo purine synthesis resulting in multi..., Hum Mol Genet

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a..., Nat Genet

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec..., Am J Hum Genet

MMP21 is mutated in human heterotaxy and is required for normal left-right as..., Nat Genet

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ..., Am J Hum Genet

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet

Pathways systematically associated to Hirschsprung's disease., Orphanet J Rare Dis

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin..., Am J Hum Genet

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i..., Clin Genet

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects..., Nat Genet

Nuclear outsourcing of RNA interference components to human mitochondria., PLoS One

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet

Epistasis between RET and BBS mutations modulates enteric innervation and cau..., Proc Natl Acad Sci U S A

Evaluation of methods for amplification of picogram amounts of total RNA for ..., BMC Genomics

Highly conserved non-coding elements on either side of SOX9 associated with P..., Nat Genet

Stabilization of RNA during laser capture microdissection by performing exper..., RNA

Somatic and germline activating mutations of the ALK kinase receptor in neuro..., Nature

GeneRetriever: software to extract all genes and transcripts in between two g..., Biotechniques

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly., Am J Med Genet A

SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Springer Science and Business Media LLC