Jeanne AMIEL | Institut Imagine

Présentation

Jeanne AMIEL

Génétique des anomalies du développement

Contact :

01 44 49 56 48

jeanne.amiel@inserm.fr

À propos

Publications scientifiques

Publications

2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV
2026

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC
2025

Rare features in Feingold syndrome type 1, Elsevier BV
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
2024

The characterization of new de novo CACNA1G variants affecting the intracellu..., Genet Med
2024

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun
2024

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auric..., Springer Science and Business Media LLC
2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in..., Science
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

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv
2023

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

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
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

TUBB4B variants specifically impact ciliary function, caus..., openRxiv
2022

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet
2022

Further delineation of auriculocondylar syndrome based on 14 novel cases and ..., Wiley
2022

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
2021

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun
2021

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

Impaired eIF5A function causes a Mendelian disorder that is partially rescued..., Nat Commun
2021

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

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis..., Stem Cell Res
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

EFTUD2 missense variants disrupt protein function and splicing i..., Wiley
2020

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel..., Nat Commun
2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa..., Brain
2018

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med..., Nat Commun
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2018

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis
2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet
2017

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate..., Am J Med Genet A
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 MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En..., Am J Hum Genet
2016

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet
2015

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci
2015

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

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet
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
2012

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet
2011

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects..., Nat Genet
2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp..., Hum Mutat
2009

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

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

Somatic and germline activating mutations of the ALK kinase receptor in neuro..., Nature
2007

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4, Elsevier BV
1998

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

Présentation

À propos

Publications scientifiques

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC

Rare features in Feingold syndrome type 1, Elsevier BV

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

The characterization of new de novo CACNA1G variants affecting the intracellu..., Genet Med

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n..., Nat Commun

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auric..., Springer Science and Business Media LLC

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in..., Science

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

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

GPATCH11 variants cause mis-splicing and early-onset retin..., openRxiv

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

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun

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

TUBB4B variants specifically impact ciliary function, caus..., openRxiv

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet

Further delineation of auriculocondylar syndrome based on 14 novel cases and ..., Wiley

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun

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

Impaired eIF5A function causes a Mendelian disorder that is partially rescued..., Nat Commun

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

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis..., Stem Cell Res

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

EFTUD2 missense variants disrupt protein function and splicing i..., Wiley

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel..., Nat Commun

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

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med..., Nat Commun

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

Next generation phenotyping using narrative reports in a rare disease clinica..., Orphanet J Rare Dis

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate..., Am J Med Genet A

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 MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En..., Am J Hum Genet

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

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci

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

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet

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

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

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

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp..., Hum Mutat

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

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

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

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4, Elsevier BV

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