S. Hanein

发表

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

S. Hanein, A. Dürr, P. Ribai, 2007, Human Genetics.

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

Arnold Munnich, Silvia Rüberg, Nicolas Cagnard, 2011, PloS one.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

A. Munnich, E. Génin, E. Westhof, 2012, Proceedings of the National Academy of Sciences.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

A. Munnich, T. Delaveau, F. Devaux, 2013, Biochimica et biophysica acta.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

A. Durr, J. Melki, S. Hanein, 2009, Neurology.

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

S. Klebe, A. Durr, S. Hanein, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

S. Hanein, J. Papon, E. Escudier, 2010, Journal of Medical Genetics.

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, S. Hanein, H. Dollfus, 2007, Human mutation.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

A. Munnich, S. Hanein, P. Calvas, 2012, Nature Genetics.

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

S. Hanein, I. Perrault, S. Gerber, 2006, Advances in experimental medicine and biology.

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

F. Rieux-Laucat, A. Fischer, C. Picard, 2020, The Journal of allergy and clinical immunology.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A. Munnich, S. Hanein, J. Dufier, 2006, Advances in experimental medicine and biology.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

F. Rieux-Laucat, A. Fischer, C. Picard, 2019, Blood.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

H. Prokisch, S. Hanein, A. Rötig, 2018, American journal of human genetics.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

A. Munnich, S. Hanein, P. Amati‐Bonneau, 2016, Journal of Medical Genetics.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

A. Munnich, N. Boddaert, S. Hanein, 2009, American journal of human genetics.

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

J. Sahel, A. Munnich, S. Picaud, 2003, Advances in experimental medicine and biology.

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

A. Munnich, S. Hanein, I. Perrault, 2002, Human mutation.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

A. Munnich, S. Hanein, H. Dollfus, 2004, American journal of human genetics.

Low prevalence of gamma-secretase complex gene mutations in a large cohort of predominantly Caucasian patients with Hidradenitis Suppurativa.

S. Hanein, S. Duchatelet, P. Nitschké, 2020, The Journal of investigative dermatology.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

F. Rieux-Laucat, A. Fischer, J. Hugot, 2018, Journal of Crohn's & colitis.

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

F. Rieux-Laucat, C. Picard, S. Hanein, 2018, PloS one.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

G. Gyapay, A. Smahi, C. Bodemer, 2017, Nature Medicine.

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

A. Durr, M. Hutchinson, S. Hanein, 2008, American journal of human genetics.

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

D. Scherman, A. Munnich, S. Hanein, 2012, Molecular therapy. Nucleic acids.

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

S. Klebe, A. Durr, S. Hanein, 2007, Human Genetics.

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

A. Munnich, S. Hanein, R. Carmi, 2008, European Journal of Human Genetics.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

S. Klebe, D. Zélénika, A. Durr, 2007, Neurogenetics.

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

A. Munnich, S. Hanein, T. Homfray, 2001, European Journal of Human Genetics.

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

A. Munnich, S. Hanein, J. Dufier, 2002, American journal of human genetics.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

J. Casanova, S. Hanein, D. Semela, 2019, Front. Genet..

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

F. Rieux-Laucat, É. Oksenhendler, S. Hanein, 2017, Journal of Clinical Immunology.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

A. Munnich, N. Boddaert, S. Hanein, 2019, Molecular Autism.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A. Munnich, S. Hanein, J. Dufier, 2003, European Journal of Human Genetics.

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A. Munnich, S. Hanein, J. Zlotogora, 2002, Ophthalmic genetics.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

A. Munnich, S. Hanein, P. Nitschké, 2011, European Journal of Human Genetics.

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

M. Polak, S. Hanein, G. Pinto, 2021, Frontiers in Endocrinology.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

S. Hanein, X. Zanlonghi, I. Meunier, 2021, Genes.

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

A. Munnich, S. Hanein, J. Dufier, 2003, Journal of medical genetics.

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

S. Hanein, D. Hicks, I. Perrault, 2002, The journal of gene medicine.

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

J. Sahel, S. Hanein, D. Hicks, 2003, Advances in experimental medicine and biology.

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

A. Munnich, S. Hanein, E. Souied, 2001, Investigative ophthalmology & visual science.

Mitochondria as Novel Players of the Cellular RNA Interference

S. Hanein, S. Lyonnet, S. Bandiera, 2011, The Journal of Biological Chemistry.

A third locus for dominant optic atrophy on chromosome 22q

A. Munnich, C. Orssaud, S. Hanein, 2005, Journal of Medical Genetics.

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options

S. Hanein, J. Steffann, N. Cerf-Bensussan, 2023, Journal of Clinical Immunology.

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype

A. Munnich, S. Hanein, J. Dufier, 2005, Human mutation.

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

A. Munnich, S. Hanein, J. Dufier, 2007, Human mutation.

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

F. Rieux-Laucat, A. Fischer, J. Hugot, 2020, Journal of Crohn's & Colitis.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

F. Rieux-Laucat, É. Oksenhendler, S. Hanein, 2017, Journal of Clinical Immunology.

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

A. Durr, M. Hutchinson, S. Hanein, 2008, American journal of human genetics.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

T. Léveillard, J. Sahel, A. Munnich, 2006, Advances in experimental medicine and biology.