Author details

Full Name

Sylvain Hanein

Affiliation

Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University

ORCID

Career Start Year

2001

Papers

H Index

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
37156989	Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.	J Clin Immunol	2023
32531373	Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.	J Allergy Clin Immunol	2021
33670832	Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis Cohort.	Genes (Basel)	2021
33692749	High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.	Front Endocrinol (Lausanne)	2021
32895718	Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.	J Crohns Colitis	2021
32142795	Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa.	J Invest Dermatol	2020
30940614	Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.	Blood	2019
31845875	[Twenty years of on-site clinical genetics consultations for people with ASD].	Med Sci (Paris)	2019
31406558	Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.	Mol Autism	2019
29429571	NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.	Am J Hum Genet	2018
29878067	De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.	Brain	2018
30365510	Copy number variations and founder effect underlying complete IL-10RÎ² deficiency in Portuguese kindreds.	PLoS One	2018
29788237	Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.	J Crohns Colitis	2018
28031252	Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy.	J Med Genet	2017
28869610	Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.	Nat Med	2017
28842786	Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.	J Clin Immunol	2017
24482476	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.	Science	2014
23351689	[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].	Med Sci (Paris)	2013
23500070	TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.	Biochim Biophys Acta	2013
23312594	ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.	Am J Hum Genet	2013
22126752	Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?	Eur J Hum Genet	2012
23344081	AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.	Mol Ther Nucleic Acids	2012
22842229	Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.	Nat Genet	2012
22503633	Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.	Am J Hum Genet	2012
22411793	Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.	Proc Natl Acad Sci U S A	2012
21695135	Nuclear outsourcing of RNA interference components to human mitochondria.	PLoS One	2011
21926178	Mitochondria as novel players of the cellular RNA interference.	J Biol Chem	2011
20104588	Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.	Hum Mutat	2010
20805370	Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.	J Med Genet	2010
19327736	TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.	Am J Hum Genet	2009
19805727	SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.	Neurology	2009
17684531	Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.	Eur J Hum Genet	2008
18394578	Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.	Am J Hum Genet	2008
17503452	Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.	Am J Med Genet B Neuropsychiatr Genet	2007
18000884	Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.	Hum Mutat	2007
17605047	A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.	Hum Genet	2007
17661097	Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.	Neurogenetics	2007
17345604	Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.	Hum Mutat	2007
17273843	A novel locus for autosomal recessive spastic ataxia on chromosome 17p.	Hum Genet	2007
17249548	Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.	Adv Exp Med Biol	2006
17249550	A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.	Adv Exp Med Biol	2006
17249549	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.	Adv Exp Med Biol	2006
15767905	[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].	J Fr Ophtalmol	2005
15643614	A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.	Hum Mutat	2005
15635063	A third locus for dominant optic atrophy on chromosome 22q.	J Med Genet	2005
15024725	Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.	Hum Mutat	2004
15581454	[Leber congenital amaurosis: retinol dehydrogenases are the culprit].	Med Sci (Paris)	2004
15322982	Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.	Am J Hum Genet	2004
12843339	Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.	J Med Genet	2003
15180249	Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.	Adv Exp Med Biol	2003

1 - 50 of 59

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 0

Panagiotis I Sergouniotis

University of Manchester

Career Start Year 2009

Number of shared co-authors 4

Adam P DeLuca

Institute for Vision Research, Carver College of Medicine, University of Iowa

Career Start Year 2008

Number of shared co-authors 1

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 3

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 5

Susanne Roosing

Radboud University Medical Center

Career Start Year 2007

Number of shared co-authors 17

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 9

Saskia Biskup

Center for Genomics and Transcriptomics (CeGaT)

Career Start Year 2004

Number of shared co-authors 8

Jean Muller

INSERM, Universite de Strasbourg

Career Start Year 2003

Number of shared co-authors 2

Gavin Arno

Institute of Ophthalmology, University College London

Career Start Year 2001

Number of shared co-authors 3

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 22

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 3

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 12

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Career Start Year 1998

Number of shared co-authors 13

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 5

Carlo Rivolta

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 1997

Number of shared co-authors 2

Enza Maria Valente

University of Pavia

Career Start Year 1996

Number of shared co-authors 27

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 9

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 11

Andrea H N??meth

University of Oxford

Career Start Year 1993

Number of shared co-authors 10

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 15

Graeme C M Black

Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital

Career Start Year 1991

Number of shared co-authors 5

Hubert J M Smeets

Maastricht University Medical Centre+

Career Start Year 1987

Number of shared co-authors 2

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 10

Rando Allikmets

Columbia University Medical Center

Career Start Year 1985

Number of shared co-authors 1

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 5

Anthony T Moore

UCL Institute of Ophthalmology, University College London

Career Start Year 1984

Number of shared co-authors 6

Edwin M Stone

Carver College of Medicine, University of Iowa, USA Institute for Vision Research

Career Start Year 1983

Number of shared co-authors 1

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 7

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 11

row(s) 1 - 30 of 30

Patrick Nitschke

Co-authored papers 9

Alexis Brice

Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS

Co-authored papers 7

Giovanni Stevanin

Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS

Co-authored papers 7

Alexandra Durr

Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS

Co-authored papers 7

H??l??ne Dollfus

Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg

Co-authored papers 7

Sylvie Forlani

ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University

Co-authored papers 5

Ali Benomar

Medical School and Pharmacy, University Mohammed V in Rabat

Co-authored papers 4

Naima Bouslam

Specialties Hospital

Co-authored papers 4

Ahmed Bouhouche

Medical School and Pharmacy, University Mohammed V in Rabat

Co-authored papers 3

H??lya Kayserili

Istanbul University

Co-authored papers 2

Rasim O Rosti

University of Virginia

Co-authored papers 2

Ahmet Okay Caglayan

Yale School of Medicine

Co-authored papers 1

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 1

Jennifer L Silhavy

University of California

Co-authored papers 1

Faezeh Mojahedi

Blood Borne Infections Research Center, Academic Center for Education

Co-authored papers 1

Emily G Spencer

Scripps Research Translational Institute

Co-authored papers 1

Ghada M H Abdel-Salam

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 1

Asl??han Tolun

Istanbul Technical University

Co-authored papers 1

Stacey Gabriel

Broad Institute of MIT and Harvard

Co-authored papers 1

Francisca Joly

Universite de Paris, Assistance Publique-Hopitaux de Paris

Co-authored papers 1

Massimo Mascaro

Howard Hughes Medical Institute, University of California

Co-authored papers 1

Jumana Y Al-Aama

King AbdulAziz University

Co-authored papers 1

Nicola K Ragge

Oxford Brookes University

Co-authored papers 1

Mostafa Abdellateef

Center for Brain Development, University of California

Co-authored papers 1

Laila Selim

Cairo University

Co-authored papers 1

Bita Bozorgmehri

Co-authored papers 1

Alice A Koh

Howard Hughes Medical Institute, University of California

Co-authored papers 1

Naiara Akizu

University of Pennsylvania

Co-authored papers 1

Ali G Fenstermaker

Howard Hughes Medical Institute, University of California

Co-authored papers 1

Ariana Kariminejad

Clinical Genetics Deaprtment

Co-authored papers 1

1 - 30

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