Guipponi, Michel | Archive ouverte UNIGE

Title	Published in	Year	Views	Downloads
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ?	Clinical genetics	2026	13	292
Utilité clinique des genome boards pour les maladies génétiques complexes	Revue médicale suisse	2023	198	202
Variable Intrafamilial Expression of ABCB4 Disease	ACG case reports journal	2023	92	121
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster	Haemophilia	2022	246	2
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family	Haematologica	2022	350	325
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	Human Mutation	2021	381	542
Benefits of exome sequencing in children with suspected isolated hearing loss	Genes	2021	319	523
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders	Genetics in medicine	2021	117	266
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis	Clinical genetics	2021	171	119
SCN8A heterozygous variants are associated with anoxic-epileptic seizures	American Journal of Medical Genetics. A	2020	281	1
LARS2-Perrault syndrome: a new case report and literature review	BMC Medical Genetics	2020	483	571
MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination	Annals of Clinical and Translational Neurology	2020	227	205
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)	American Journal of Medical Genetics. A	2020	346	1
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes	Pediatric Diabetes	2019	369	3
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Neuropediatrics	2018	593	2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Genetics in Medicine	2018	585	366
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	80	117
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother	Journal of Human Genetics	2018	464	580
New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation	The Pharmacogenomics Journal	2018	607	1
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients	Translational Psychiatry	2017	634	226
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A	2017	551	2
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	657	488
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	559	358
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	749	358
Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma	Human genome meeting 2016	2016	9	28
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Nature genetics	2016	886	8
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)	Human molecular genetics	2015	614	0
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	690	360
Galanin pathogenic mutations in temporal lobe epilepsy	Human molecular genetics	2015	559	0
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	612	0
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	667	472
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	730	341
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Stem cells	2015	736	622
Familial epilepsy in Algeria: Clinical features and inheritance profiles	Seizure	2015	566	0
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	681	221
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	704	4
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	710	2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	671	0
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	PloS one	2014	772	523
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling	PLOS genetics	2014	730	337
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	775	287
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	EMBO molecular medicine	2014	755	596
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	651	240
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	620	0
Copy number variants and therapeutic response to antidepressant medication in major depressive disorder	Pharmacogenomics journal	2014	626	0
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature	American journal of medical genetics. Part B, Neuropsychiatric genetics	2013	644	0
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	780	546
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm	Retrovirology	2013	621	388
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	American journal of human genetics	2013	590	0
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family	BMC genetics	2013	221	122
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Cancer research	2012	721	1
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma	Nature genetics	2012	687	3
Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis	PLoS medicine	2012	753	482
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy	Human mutation	2012	247	1
Role of Type II Transmembrane Serine Proteases in Hearing Loss		2011	841	9
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing	The Journal of biological chemistry	2011	555	0
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences	PloS one	2011	680	457
Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice	Neuroreport	2010	609	603
SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology	Journal of molecular neuroscience	2010	618	0
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family	Epilepsy research	2010	639	0
Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims	American journal of medical genetics. Part B, Neuropsychiatric genetics	2010	750	1
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies	PLOS genetics	2010	721	573
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior	American journal of medical genetics. Part B, Neuropsychiatric genetics	2009	750	1
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy	Nature genetics	2009	628	2
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness	Frontiers in bioscience	2008	942	835
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss	Human mutation	2008	598	0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	687	0
Association of the connexin36 gene with juvenile myoclonic epilepsy	Journal of medical genetics	2004	617	0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development	Genomics	2004	594	0
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling	Biochimica et biophysica acta	2003	658	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	657	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	744	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	658	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	661	1
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP	Nature cell biology	2001	645	0
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family	Human genetics	2001	607	387
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	638	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	649	0
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21	Human genetics	2000	634	312
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region	Genomics	2000	621	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	645	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	714	0
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2	Cytogenetics and cell genetics	1998	571	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	628	0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Human genetics	1998	552	0
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence	Human genetics	1998	572	0