M. Delepine

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Aliases
Marc Delepine, M Delépine, M Delepine, Marcel Delepine, Marc Délepine, Marc Délépine, M. Delépine, M. Delepine, Marc Delépine
Publication record
69 papers · 11,172 citations · H-index 38

PAPERS

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
202319 citationsauthor #8
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
202125 citationsauthor #16
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
20211 citationsauthor #16
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
202014 citationsauthor #17
Refscope: A reference sequence, prior-knowledge system used to assess 10X Genomic Chromium System efficiency in neutralizing repeat noise
20180 citationsauthor #6
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples
201855 citationsauthor #8
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
201616 citationsauthor #8
Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.
201622 citationsauthor #5
Maladaptative autophagy impairs adipose function 1 in Congenital Generalized Lipodystrophy due to cavin-1 deficiency 2 3
20160 citationsauthor #7
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
201668 citationsauthor #33
Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients
201543 citationsauthor #9
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
2014558 citationsauthor #43
AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
201346 citationsauthor #4
Performance of thunniform propulsion : a high bio-fidelity experimental study
20131 citationsauthor #1
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25
201340 citationsauthor #57
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
201368 citationsauthor #8
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease
2012134 citationsauthor #48
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
2012396 citationsauthor #51
P-698 - Analysis of Smarca2 and Genes Encoding Interactors of Swi/snf Smarca2/brm Protein in Schizophrenia Patients From an Algerian Trio Cohort
20120 citationsauthor #3
A polymorphism in the SOST promoter is associated with SOST expression in human bone and with fracture in osteogenesis imperfecta
20120 citationsauthor #3
Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium
201110 citationsauthor #118
A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium
2011292 citationsauthor #120
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
2011659 citationsauthor #34
Perilipin deficiency and autosomal dominant partial lipodystrophy.
2011289 citationsauthor #9
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.
2011113 citationsauthor #20
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular
20111 citationsauthor #8
Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease
20111,909 citationsauthor #136
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
2011121 citationsauthor #9
SMARCA2 common variant association and rare variant excess in Schizophrenia patients from an Algerian Trio Cohort
20110 citationsauthor #3
Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study
201073 citationsauthor #9
Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11
201019 citationsauthor #7
The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease: a Meta-Analysis Study
201057 citationsauthor #39
RESULTS OF HIGH DOSE VANCOMYCIN LOADED SPACERS IN TREATMENT OF INFECTED MASSIVE PROSTHESES
20100 citationsauthor #3
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25
20081,298 citationsauthor #58
Lung cancer susceptibility locus at 5p15.33
2008584 citationsauthor #41
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
2008383 citationsauthor #2
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
200863 citationsauthor #3
Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'.
2006161 citationsauthor #7
SRPX2 mutations in disorders of language cortex and cognition.
2006261 citationsauthor #14
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
200631 citationsauthor #4
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
2004197 citationsauthor #3
Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: discrepancies between genotype, blood lipid concentrations, and coronary disease risk.
200469 citationsauthor #8
Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
200494 citationsauthor #2
Prevalence of mutations in AGPAT2 among human lipodystrophies.
200388 citationsauthor #2
Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E ε2/ε3/ε4 genotype
200347 citationsauthor #8
Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype.
200326 citationsauthor #8
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
200226 citationsauthor #7
The origin of a developmentally regulated Igh replicon is located near the border of regulatory domains for Igh replication and expression
200251 citationsauthor #3
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
2002266 citationsauthor #5
Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
2001745 citationsauthor #2
Nucleic acid encoding cgl1 polypeptide and application of this nucleic acid and cgl1 polypeptide to diagnosis and therapeutics
20010 citationsauthor #4
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
2000854 citationsauthor #1
Large-scale test of association between myocardial infarction, plasma lipid levels and apolipoprotein E e2/e3/e4 polymorphism in about 11,000 cases and controls
20000 citationsauthor #6
Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators.
2000380 citationsauthor #7
Plasma fibrinogen and fibrinogen genotypes in 4685 cases of myocardial infarction and in 6002 controls: Test of causality by "Mendelian randomisation"
200065 citationsauthor #7
Fine-mapping of an ancestral recombination breakpoint in DCP1
199942 citationsauthor #4
Large-scale test of hypothesised associations between the angiotensin-1 converting enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 5000 controls
199930 citationsauthor #7
Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group.
199876 citationsauthor #9
Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10.
1997192 citationsauthor #2
Multiple DNA variant association analysis: application to the insulin gene region in type I diabetes.
199460 citationsauthor #4
Study of the thermal decomposition of carbonate groups in sedimentary apatites by thermogravimetric analysis
19894 citationsauthor #1
600〜1050°Cで熱分解された木炭の炭素繊維がSO2物理吸着性に及ぼす影響
19740 citationsauthor #1
[Alcoholic fermentation in the presence of silver, silver nitrate, silver chloride and potassium silver cyanide].
19590 citationsauthor #1
[The prefix "nor"].
19540 citationsauthor #1
Marcelin Berthelot and industry
19540 citationsauthor #1
[The word "alkaloid" and the presence of nitrogen in alkaloids].
19532 citationsauthor #1
[Notice on Arnold Frederik Holleman, correspondent for the chemistry section].
19530 citationsauthor #1
[Obituary of Emile Perrot (1867-1951)].
19520 citationsauthor #1
Joseph Pelletier and Joseph Caventou
195134 citationsauthor #1

TIMELINE

1951 34 citations

1952 0 citations

1953 2 citations

1954 0 citations

1959 0 citations

1974 0 citations

1989 4 citations

1994 60 citations

1997 192 citations

1998 76 citations

1999 72 citations

2000 1,299 citations

2001 745 citations

2002 343 citations

2003 161 citations

2004 360 citations

2006 453 citations

2008 2,328 citations

2010 149 citations

2011 3,394 citations

2012 530 citations

2013 155 citations

2014 558 citations

2015 43 citations

2016 106 citations

2018 55 citations

2020 14 citations

2021 26 citations

2023 19 citations

M. Delepine

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