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B. Roquelaure · SciRah

Researcher profile · Semantic Scholar

B. Roquelaure

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B. Roquelaure — researcher profile on SciRah

h-index: 23
Works: 68
Citations: 2,056

Most-cited papers

Improving outcomes of biliary atresia: French national series 1986-2009.
C. Chardot, C. Buet, M. Serinet, J. Golmard +7 more
2013Journal of Hepatology246 citations
Semantic Scholar
Mutations in CDCA7 and HELLS cause Immunodeficiency- Centromeric Instability-Facial Anomalies Syndrome
P. E. Thijssen, Y. Ito, G. Grillo, Jun Wang +25 more
2015Nature Communications183 citations Open access
Semantic Scholar
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Richard J. Thompson, H. Arnell, R. Artan, U. Baumann +30 more
2022The Lancet Gastroenterology and Hepatology160 citations Open access
Semantic Scholar
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
A. Fabre, B. Charroux, C. Martinez-Vinson, B. Roquelaure +12 more
2012American Journal of Human Genetics152 citations Open access
Semantic Scholar
Chronic Intestinal Pseudoobstruction Syndrome Clinical Analysis, Outcome, and Prognosis in 105 Children
C. Faure, O. Goulet, S. Ategbo, A. Breton +13 more
1999Digestive Diseases and Sciences124 citations
Semantic Scholar
Management of Biliary Atresia in France 1986-2015: Long Term Results.
Martina Fanna, G. Masson, C. Capito, M. Girard +10 more
2019Journal of Pediatric Gastroenterology and Nutrition - JPGN105 citations Open access
Semantic Scholar
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
P. E. Thijssen, Y. Ito, G. Grillo, Jun Wang +25 more
2016Nature Communications86 citations Open access
Semantic Scholar
Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.
C. Blanco-Betancourt, A. Moncla, M. Milili, Yun-Liang Jiang +4 more
2004Blood81 citations
Semantic Scholar
Inappropriate liver transplantation in a child with Alpers–Huttenlocher syndrome misdiagnosed as valproate‐induced acute liver failure
A. Delarue, Olivier Paut, J. Guys, M. Montfort +5 more
2000Pediatric Transplantation72 citations
Semantic Scholar
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Estève, Ludmila Francescatto, P. L. Tan, A. Bourchany +33 more
2018American Journal of Human Genetics61 citations Open access
Semantic Scholar
Fibrin Glue Application in the Management of Refractory Chylous Ascites in Children
S. Zeidan, A. Delarue, A. Rome, B. Roquelaure
2008Journal of Pediatric Gastroenterology and Nutrition - JPGN61 citations Open access
Semantic Scholar
Novel mutations in TTC37 associated with tricho‐hepato‐enteric syndrome
A. Fabre, C. Martinez-Vinson, B. Roquelaure, C. Missirian +11 more
2011Human Mutation60 citations Open access
Semantic Scholar
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome
A. Fabre, A. Breton, Marie-Edith Coste, V. Colomb +13 more
2013Archives of Disease in Childhood53 citations
Semantic Scholar
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.
V. Matéo, M. Ménager, G. de Saint-Basile, M. Stolzenberg +7 more
2007Blood47 citations Open access
Semantic Scholar
Molecular effects of cyclosporine and oncogenesis: a new model.
N. André, B. Roquelaure, J. Conrath
2004Medical Hypotheses46 citations
Semantic Scholar
Syndromic (phenotypic) diarrhea in early infancy
O. Goulet, C. Vinson, B. Roquelaure, N. Brousse +2 more
2008Orphanet Journal of Rare Diseases44 citations Open access
Semantic Scholar
Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis
Richard J. Thompson, R. Artan, U. Baumann, P. Calvo +37 more
2023JHEP Reports43 citations Open access
Semantic Scholar
Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders
C. Corpechot, V. Barbu, O. Chazouilleres, P. Broué +7 more
2020Liver international (Print)40 citations
Semantic Scholar
Child with liver transplant recovers from COVID-19 infection. A case report
A. Morand, B. Roquelaure, P. Colson, S. Amrane +4 more
2020Archives de pédiatrie39 citations Open access
Semantic Scholar
Hepatitis E in three immunocompromized children in southeastern France.
A. Motte, B. Roquelaure, C. Galambrun, Fanette Bernard +2 more
2012Journal of Clinical Virology39 citations
Semantic Scholar
Intractable diarrhea with “phenotypic anomalies” and tricho‐hepato‐enteric syndrome: Two names for the same disorder
A. Fabre, N. André, A. Breton, P. Broué +2 more
2007American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
M. Almes, A. Spraul, M. Ruiz, M. Girard +16 more
2022Diagnostics28 citations Open access
Semantic Scholar
A prospective pilot study: Can the biliary tree be visualized in children younger than 3 months on Magnetic Resonance Cholangiopancreatography?
P. Siles, A. Aschero, G. Gorincour, B. Bourlière-Najean +3 more
2014Pediatric Radiology26 citations
Semantic Scholar
Chronic renal failure and portal hypertension – is portosystemic shunt indicated?
M. Tsimaratos, S. Cloarec, B. Roquelaure, K. Retornaz +5 more
2000Pediatric nephrology (Berlin, West)22 citations
Semantic Scholar
[Oxcarbazepine and DRESS syndrome: a paediatric cause of acute liver failure].
E. Bosdure, A. Cano, B. Roquelaure, R. Reynaud +3 more
2004Archives de pédiatrie21 citations
Semantic Scholar
Fatal case of Reye's syndrome associated with H3N2 influenza virus infection and salicylate intake in a 12-year-old patient.
L. Ninove, L. Daniel, J. Gallou, P. Cougard +7 more
2011Clinical Microbiology and Infection19 citations Open access
Semantic Scholar
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
N. André, B. Roquelaure, V. Jubin, C. Ovaert
2005Journal of Inherited Metabolic Disease18 citations
Semantic Scholar
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
E. Masson, Wen-Bin Zou, Na Pu, V. Rebours +181 more
2023Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]13 citations Open access
Semantic Scholar
Detection of a newly identified hepatitis B virus genotype in southeastern France.
P. Colson, B. Roquelaure, C. Tamalet
2009Journal of Clinical Virology13 citations
Semantic Scholar
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review
Morgane Caralli, C. Roman, Marie-Edith Coste, B. Roquelaure +4 more
2021Journal of Pediatric Gastroenterology and Nutrition - JPGN12 citations Open access
Semantic Scholar
Sonographic diagnosis of a common pancreaticobiliary channel in children
S. Chapuy, G. Gorincour, B. Roquelaure, A. Aschero +5 more
2006Pediatric Radiology11 citations
Semantic Scholar
Somatic mutation, a cause of biliary atresia: A hypothesis.
A. Fabre, C. Roman, B. Roquelaure
2017Medical Hypotheses10 citations
Semantic Scholar
Histopathology of the liver in adolescents co-infected with HIV and hepatitis C virus
I. Thuret, F. Lacaille, D. Canioni, B. Roquelaure +2 more
2003AIDS (London)10 citations Open access
Semantic Scholar
Quality of life of transplanted children and their parents: a cross-sectional study
Pauline Duvant, Magali Fillat, F. Garaix, B. Roquelaure +6 more
2020Orphanet Journal of Rare Diseases9 citations Open access
Semantic Scholar
[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].
S. Szepetowski, C. Lacoste, S. Mallet, B. Roquelaure +2 more
2017Archives de pédiatrie8 citations
Semantic Scholar
Fulminant Hepatitis Due to Father-to-Newborn Transmission of Herpes Simplex Virus type 1
A. Bal, C. Zandotti, A. Nougairède, L. Ninove +2 more
2013Open Virology Journal8 citations Open access
Semantic Scholar
Purpura Fulminans in a Patient Homozygous for a Mutation in the Protein C Gene - Prenatal Diagnosis in a Subsequent Pregnancy
M. Alessi, M. Aillaud, O. Paut, B. Roquelaure +4 more
1996Thrombosis and Haemostasis8 citations
Semantic Scholar
Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD.
C. de Leusse, C. Roman, B. Roquelaure, A. Fabre
2022Archives de pédiatrie7 citations Open access
Semantic Scholar
Anti-mitochondrial-2 antibodies (anti-PDC-E2): a marker for autoimmune hepatitis of children?
Romain Bailloud, D. Bertin, B. Roquelaure, C. Roman +3 more
2012Clinics And Research in Hepatology and Gastroenterology7 citations
Semantic Scholar
Chronic inflammatory diseases of the bowel: diagnosis and follow-up
G. Gorincour, A. Aschero, C. Desvignes, F. Portier +7 more
2010Pediatric Radiology6 citations
Semantic Scholar
[Recurrent tracheoesophageal fistula in type III esophageal atresia. Diagnosis and treatment are not easy].
C. Lepeytre, B. Roquelaure, P. de Lagausie, T. Merrot +1 more
2014Archives de pédiatrie5 citations
Semantic Scholar
Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies
N. André, B. Roquelaure, M. Caillez, M. Chrestian +3 more
2004Pediatrics5 citations
Semantic Scholar
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.
A. Fabre, B. Roquelaure, C. Lacoste, N. André +8 more
2009Journal of Pediatric Gastroenterology and Nutrition - JPGN4 citations
Semantic Scholar
Partial splenectomy in children undergoing liver transplantation or venous shunt for severe hypersplenism: a case control comparative study.
O. Boillot, S. Chopinet, E. Gregoire, L. Milot +7 more
2022Clinics And Research in Hepatology and Gastroenterology3 citations Open access
Semantic Scholar
A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child
Pauline Duvant, B. Roquelaure, A. Morand, E. Bosdure +3 more
2021Pediatric Transplantation3 citations Open access
Semantic Scholar
Doppler ultrasound in the diagnosis of Budd-Chiari syndrome in children after split liver transplantation.
J. Hak, A. Dabadie, G. Héry, A. Aschero +9 more
2018Diagnostic and Interventional Imaging2 citations Open access
Semantic Scholar
Odevixibat therapy in patients with MYO5B mutations: a retrospective case series
B. Roquelaure, M. Sciveres, T. Grammatikopoulos, E. Lurz +5 more
2023Journal of Hepatology1 citations
Semantic Scholar
Efficacy and safety of odevixibat over 72 weeks of treatment in patients with progressive familial intrahepatic cholestasis
Richard J. Thompson, E. Gonzales, R. Artan, W. Hardikar +18 more
2022Journal of Hepatology1 citations
Semantic Scholar
Analysis of quality of life, hepatic biochemical markers, and sleep in patients with progressive familial intrahepatic cholestasis who had a pruritus response with odevixibat treatment
G. Gupte, Richard J. Thompson, L. D'Antiga, T. Grammatikopoulos +21 more
2022Journal of Hepatology1 citations
Semantic Scholar
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre, Clothilde Estève, Ludmila Francescatto, P. L. Tan +33 more
20191 citations
Semantic Scholar

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