Most cited papers from IntegraGen (France)

IntegraGen (France)

What are the most cited papers from IntegraGen (France)?

The most cited paper from IntegraGen (France) is "Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma" (Cécile Guichard, Giuliana Amaddeo, Sandrine Imbeaud et al., 2012), with 1,489 citations. Next come "SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma" (790) and "Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas" (497).

Published TypeFieldAccessCitations

Showing 50 of 91 papers. Every paper is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma Cécile Guichard, Giuliana Amaddeo, Sandrine Imbeaud et al. · Nature Genetics Open access	6 May 2012	1,489
2	SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma Éric Letouzé, Cosimo Martinelli, Céline Loriot et al. · Cancer Cell Open access	23 May 2013	790
3	Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas Jean‐Charles Nault, Shalini Datta, Sandrine Imbeaud et al. · Nature Genetics	24 Aug 2015	497
4	A Hepatocellular Carcinoma 5-Gene Score Associated With Survival of Patients After Liver Resection Jean‐Charles Nault, Aurélien de Reyniès, Augusto García Villanueva et al. · Gastroenterology Open access	6 Apr 2013	342
5	Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science Open access	8 Apr 2011	233
6	Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1 Luigi Palmieri et al. · Molecular Psychiatry Open access	8 Jul 2008	212
7	CRB1 mutations in inherited retinal dystrophies Kinga M. Bujakowska, Isabelle S. Audo, Saddek Mohand‐Saïd et al. · Human Mutation Open access	7 Nov 2011	198
8	Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells Lisa Boucret, Juan Manuel Chao de la Barca, Catherine Morinière et al. · Human Reproduction	20 May 2015	193
9	Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases Isabelle S. Audo, Kinga M. Bujakowska, Thierry Léveillard et al. · Orphanet Journal of Rare Diseases Open access	2012	173
10	Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness Christina Zeitz et al. · The American Journal of Human Genetics Open access	13 Dec 2012	141
11	Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness Isabelle S. Audo et al. · The American Journal of Human Genetics Open access	Feb 2012	136
12	Functional variants of POC5 identified in patients with idiopathic scoliosis Shunmoogum A. Patten et al. · Journal of Clinical Investigation Open access	Feb 2015	123
13	Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant et al. · Orphanet Journal of Rare Diseases Open access	23 Jun 2015	114
14	An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Crystel Bonnet et al. · European Journal of Human Genetics Open access	27 Jul 2016	113
15	A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression Jing Liu et al. · Nature Communications Open access	22 Sep 2021	111
16	Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients Florence Koeppel, Steven G. Blanchard, Cécile Jovelet et al. · PLoS ONE Open access	21 Nov 2017	107
17	Hsa-miR-31-3p Expression Is Linked to Progression-free Survival in Patients with KRAS Wild-type Metastatic Colorectal Cancer Treated with Anti-EGFR Therapy Gilles Manceau et al. · Clinical Cancer Research	25 Apr 2014	105
18	RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans Christel Depienne et al. · The American Journal of Human Genetics Open access	Feb 2012	86
19	Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism Gilles Maussion, Jérôme Carayol, Aude-Marie Lepagnol-Bestel et al. · Human Molecular Genetics	7 May 2008	85
20	Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism Anne Philippi, Elke Roschmann, Frédéric Torès et al. · Molecular Psychiatry	19 Jul 2005	79
21	Pacpaint: a histology-based deep learning model uncovers the extensive intratumor molecular heterogeneity of pancreatic adenocarcinoma Charlie Saillard et al. · Nature Communications Open access	13 Jun 2023	76
22	Matrix Metalloproteinase Gene Polymorphisms and Bronchopulmonary Dysplasia: Identification of MMP16 as a New Player in Lung Development Alice Hadchouel, Fabrice Decobert, Marie‐Laure Franco‐Montoya et al. · PLoS ONE Open access	10 Sep 2008	71
23	Genome-Wide Association Study in a Lebanese Cohort Confirms PHACTR1 as a Major Determinant of Coronary Artery Stenosis Jörg Hager et al. · PLoS ONE Open access	20 Jun 2012	65
24	Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy Saïd El Shamieh, Marion Neuillé, Angélique Terray et al. · The American Journal of Human Genetics Open access	27 Mar 2014	61
25	Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes Valerio Napolioni, Federica Lombardi, Roberto Sacco et al. · European Journal of Human Genetics Open access	24 Nov 2010	59
26	Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1 Roberto Sacco, Veruska Papaleo, Jörg Hager et al. · BMC Medical Genetics Open access	8 Mar 2007	58
27	Association between miR-31-3p expression and cetuximab efficacy in patients with KRAS wild-type metastatic colorectal cancer: a post-hoc analysis of the New EPOC trial Sian Alexandra Pugh, Raphaële Thiébaut, John A. Bridgewater et al. · Oncotarget Open access	27 Sep 2017	57
28	Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Claire Amiet, Isabelle Gourfinkel‐An, Claudine Laurent et al. · Molecular Autism Open access	Dec 2013	53
29	Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling Pascale May‐Panloup, Véronique Ferré-L’Hôtellier, Catherine Morinière et al. · Human Reproduction	13 Jan 2012	49
30	Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma Amélie Roehrig et al. · Nature Communications Open access	8 Apr 2024	44
31	HLA-D and PLA2R1 risk alleles associate with recurrent primary membranous nephropathy in kidney transplant recipients Lena Berchtold et al. · Kidney International Open access	Sep 2020	42
32	TFAP2B Influences the Effect of Dietary Fat on Weight Loss under Energy Restriction Tanja Stocks et al. · PLoS ONE Open access	27 Aug 2012	42
33	An Accessible and Unique Insight into Metastasis Mutational Content Through Whole-exome Sequencing of Circulating Tumor Cells in Metastatic Prostate Cancer Vincent Faugeroux et al. · European Urology Oncology Open access	4 Jan 2019	40
34	Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis Anne Philippi, Frédéric Torès, Jérôme Carayol et al. · BMC Medical Genetics Open access	Dec 2007	40
35	RoXaN, a Novel Cellular Protein Containing TPR, LD, and Zinc Finger Motifs, Forms a Ternary Complex with Eukaryotic Initiation Factor 4G and Rotavirus NSP3 Damien Vitour, Pierre Lindenbaum, Patrice Vende et al. · Journal of Virology Open access	26 Mar 2004	39
36	Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies Élise Boulanger-Scemama, Saddek Mohand‐Saïd, Saïd El Shamieh et al. · International Journal of Molecular Sciences Open access	30 Sep 2019	38
37	The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family Isabelle S. Audo et al. · Human Molecular Genetics	10 Sep 2013	34
38	Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders Christina Zeitz et al. · Human Mutation Open access	2 Mar 2019	32
39	Targeted Next Generation Sequencing Identifies Novel Mutations inRP1as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy Saïd El Shamieh, Élise Boulanger-Scemama, Marie‐Elise Lancelot et al. · BioMed Research International Open access	2015	32
40	Promoter adiponectin polymorphisms and waist/hip ratio variation in a prospective French adults study Guillaume Dolley, Sandrine Bertrais, Vincent Frochot et al. · International Journal of Obesity	11 Dec 2007	29
41	The GLO1 C332 (Ala111) allele confers autism vulnerability: Family-based genetic association and functional correlates Stefano Gabriele, Federica Lombardi, Roberto Sacco et al. · Journal of Psychiatric Research Open access	8 Aug 2014	25
42	Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk Jérôme Carayol, Gerard D. Schellenberg, Frédéric Torès et al. · Molecular Autism Open access	2010	24
43	Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy Cécile Méjécase, Aurélie Hummel, Saddek Mohand‐Saïd et al. · Clinical Genetics	29 Sep 2018	23
44	Are There Cultural Differences in Parental Interest in Early Diagnosis and Genetic Risk Assessment for Autism Spectrum Disorder? Claire Amiet, Elizabeth Couchon, Kelly M. Carr et al. · Frontiers in Pediatrics Open access	23 Apr 2014	23
45	Autism risk assessment in siblings of affected children using sex-specific genetic scores Jérôme Carayol, Gerard D. Schellenberg, Beth A. Dombroski et al. · Molecular Autism Open access	2011	22
46	Epilepsy in Simplex Autism Pedigrees is Much Lower Than the Rate in Multiplex Autism Pedigrees Claire Amiet, Isabelle Gourfinkel‐An, Claudine Laurent et al. · Biological Psychiatry	16 Mar 2013	22
47	Massively parallel DNA sequencing from routinely processed cytological smears Laure Piqueret‐Stephan, Charles Marcaillou, Cécile Réyès et al. · Cancer Cytopathology	27 Oct 2015	21
48	Next‐generation sequencing confirms the implication of SLC24A1 in autosomal‐recessive congenital stationary night blindness Marion Neuillé, Sivasankar Malaichamy, Maria Vadalà et al. · Clinical Genetics	29 Jan 2016	20
49	Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy Cécile Méjécase, Caroline Laurent‐Coriat, Claudine Mayer et al. · PLoS ONE Open access	15 Dec 2016	18
50	Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors Nelson Lourenço, Zofia Hélias‐Rodzewicz, Jean‐Baptiste Bachet et al. · Molecular Cancer Open access	6 Nov 2014	18

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.