Citation Impact
Citing Papers
Structural Variation in the Human Genome and its Role in Disease
2010
Genetic Prevalence and Characteristics in Children With Recurrent Pancreatitis
2011
Noninvasive Detection of Response and Resistance in EGFR -Mutant Lung Cancer Using Quantitative Next-Generation Genotyping of Cell-Free Plasma DNA
2014
The Ensembl Variant Effect Predictor
2016 Standout
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
New insights on the antiviral effects of chloroquine against coronavirus: what to expect for COVID-19?
2020 Standout
Lung cancer patients with HER2 mutations treated with chemotherapy and HER2-targeted drugs: results from the European EUHER2 cohort
2015
Treatment of cutaneous and pulmonary sarcoidosis with thalidomide
1995
Autism and mitochondrial disease
2010
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
2011 Standout
Pancreas Divisum Is Not a Cause of Pancreatitis by Itself But Acts as a Partner of Genetic Mutations
2011
Mendelian Inheritance in Man and Its Online Version, OMIM
2007
Sarcoidosis: immunology, rheumatic involvement, and therapeutics
2001
The biology and management of non-small cell lung cancer
2018 StandoutNature
Cystic fibrosis transmembrane conductance regulator in teleost fish
2002
The mini-driver model of polygenic cancer evolution
2015 StandoutNobel
Pancreatitis, Pancreatic, and Thyroid Cancer With Glucagon-Like Peptide-1–Based Therapies
2011
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
2008 Standout
Epidemiology of Pancreatic Cancer: Global Trends, Etiology and Risk Factors
2019 Standout
Pancreatitis Risk in Primary Hyperparathyroidism: Relation to Mutations in the SPINK1 Trypsin Inhibitor (N34S) and the Cystic Fibrosis Gene
2008
TFOS DEWS II pathophysiology report
2017 Standout
An Approach to the Treatment of Pulmonary Sarcoidosis With Corticosteroids
1999
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
Sarcoidosis
2013 Standout
Acute Pancreatitis
2016 Standout
Lung cancer: current therapies and new targeted treatments
2016 Standout
Pancreatic Adenocarcinoma
2014 Standout
Clan Genomics and the Complex Architecture of Human Disease
2011
Extracellular matrix structure
2015 Standout
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
2008
The Epidemiology of Pancreatitis and Pancreatic Cancer
2013 Standout
Pancreatitis-Diabetes-Pancreatic Cancer
2013
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
2013
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
The diagnosis and management of monogenic diabetes in children and adolescents
2009
Copy-number variation and association studies of human disease
2007
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
Type 1 diabetes
2013 Standout
Sarcoidosis
1997 Standout
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
The Multifunctional Fish Gill: Dominant Site of Gas Exchange, Osmoregulation, Acid-Base Regulation, and Excretion of Nitrogenous Waste
2004 Standout
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Statistical analysis strategies for association studies involving rare variants
2010
Effectiveness of Chloroquine and Hydroxychloroquine in Treating Selected Patients With Sarcoidosis With Neurological Involvement
1998
ABO Blood Group and Chronic Pancreatitis Risk in the NAPS2 Cohort
2011
Risk of Pancreatic Adenocarcinoma in Patients With Hereditary Pancreatitis: A National Exhaustive Series
2008
Dabrafenib in patients with BRAFV600E-positive advanced non-small-cell lung cancer: a single-arm, multicentre, open-label, phase 2 trial
2016
Common vs. rare allele hypotheses for complex diseases
2009
Treatment of chronic sarcoidosis with an azathioprine/prednisolone regimen
1999
Sarcoidosis
2007 Standout
The role of alcohol and smoking in pancreatitis
2010
Metastatic non-small cell lung cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
2018 Standout
Alcohol and Smoking as Risk Factors in an Epidemiology Study of Patients With Chronic Pancreatitis
2010
Proteases: Multifunctional Enzymes in Life and Disease
2008
Genetic Risk Factors for Pancreatic Disorders
2013
The Fibroblast Growth Factor signaling pathway
2015 Standout
Assessing mitochondrial dysfunction in cells
2011 Standout
Immunosuppressive and cytotoxic therapy for pulmonary sarcoidosis
2006
Genetic background of pancreatitis
2006
Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis
2010
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
2015 Standout
Sudden cardiac death in 14- to 35-year olds in Ireland from 2005 to 2007: a retrospective registry
2011
Interpreting non-coding variation in complex disease genetics
2012
Hereditary pancreatitis and secondary screening for early pancreatic cancer.
2005
Copy Number Variation in Human Health, Disease, and Evolution
2009
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
2010 Standout
Works of Cédric Le Maréchal being referenced
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling
2001
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
2008
Identification of a Novel Pancreatitis-Associated Missense Mutation, R116C, in the Human Cationic Trypsinogen Gene (PRSS1)
2001
Trypsinogen Copy Number Mutations in Patients With Idiopathic Chronic Pancreatitis
2007
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis
2007
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
2003 Nobel
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
2008
The natural history of hereditary pancreatitis: a national series
2008
Determination of the relative contribution of three genes–the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene–to the etiology of idiopathic chronic pancreatitis
2002
Hereditary pancreatitis caused by triplication of the trypsinogen locus
2006
“Loss of function” mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis
2003
Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms
2004
Azathioprine treatment of chronic pulmonary sarcoidosis.
1985
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( SPINK1 ) cause familial and/or hereditary pancreatitis
2004
Biomarkers (BM) France: Results of routine EGFR, HER2, KRAS, BRAF, PI3KCA mutations detection and EML4-ALK gene fusion assessment on the first 10,000 non-small cell lung cancer (NSCLC) patients (pts).
2013