Sylvain HANEIN | Institut Imagine

Présentation

PhD, Ingénieur

Sylvain HANEIN

Bioinformatique

Contact :

01 42 75 42 94

sylvain.hanein@institutimagine.org

À propos

Publications scientifiques

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2025

A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds., J Hum Immun
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2025

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to ..., Nat Med
2025

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

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol
2024

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

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ..., Int J Mol Sci
2020

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
2019

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)
2019

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro..., Front Genet
2019

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism
2019

Pediatric Evans syndrome is associated with a high frequency of potentially d..., Blood
2018

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

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis
2018

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with..., Am J Hum Genet
2017

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation..., Nat Med
2017

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A..., J Clin Immunol
2016

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet
2013

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

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet
2012

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co..., Mol Ther Nucleic Acids
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet
2011

Nuclear outsourcing of RNA interference components to human mitochondria., PLoS One
2009

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet
2004

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis., Am J Hum Genet
2003

The ABCA4 gene in autosomal recessive cone-rod dystrophies., Am J Hum Genet

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Présentation

À propos

Publications scientifiques

deep intronic variant underlying IPEX., J Hum Immun

A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds., J Hum Immun

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to ..., Nat Med

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

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency., J Clin Immunol

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

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ..., Int J Mol Sci

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro..., Front Genet

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism

Pediatric Evans syndrome is associated with a high frequency of potentially d..., Blood

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

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with..., Am J Hum Genet

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation..., Nat Med

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A..., J Clin Immunol

Compound heterozygosity for severe and hypomorphic mutations cause non-syndr..., J Med Genet

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

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co..., Mol Ther Nucleic Acids

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

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

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive..., Am J Hum Genet

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis., Am J Hum Genet

The ABCA4 gene in autosomal recessive cone-rod dystrophies., Am J Hum Genet