Pierre Blanc

Université de Pau et des Pays de l'Adour — France

Medicine · Health Sciences

19h-index1.7kcitations105works4.32yr avg
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Research Topics

Liver Disease Diagnosis and Treatment(17), Liver Disease and Transplantation(14), Inflammatory Bowel Disease(9), Hepatitis C virus research(8), Microscopic Colitis(7)

Publications100 total

Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome
Circulation Genomic and Precision Medicine·2025Open Access
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder
Journal of Medical Genetics·2025· 1 cited
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
eLife·2025Open Access
Author response: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
2025Open Access
Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes
2025· 3 citedOpen Access
Author response: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
2025Open Access
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics·2025· 3 citedOpen Access
Slipping rib syndrome: an easy diagnostic often over looked…
Hépato-Gastro & Oncologie Digestive·2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
European Journal of Human Genetics·2025· 3 cited
The alpha-fetoprotein, tumor marker for hepatocellular carcinoma but not only…
Hépato-Gastro & Oncologie Digestive·2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants
Human Genetics·2025
Kreyòl pale: A Haitian Creole Textbook for Beginners
2025
The phenotypic spectrum of <i>CEP250</i> gene variants
Ophthalmic Genetics·2024· 3 citedOpen Access
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
European Journal of Human Genetics·2024· 3 citedOpen Access
Germline mutations in a G protein identify signaling cross-talk in T cells
Science·2024· 19 citedOpen Access
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
2024Open Access
Multi-purpose robot for rehabilitation of small diameter water pipes
arXiv (Cornell University)·2024Open Access
René Otayek Féministes arabes du Levant. Portraits de femmes libres L’Orient des livres, Non-lieu, 2023
Confluences Méditerranée·2024Open Access
Génétique de la douleur chronique: Une revue narrative illustrée par les exemples de la fibromyalgie et de la douleur chronique postchirurgicale
SPIRE - Sciences Po Institutional REpository·2023
What can patients expect in the long term from radiofrequency thermocoagulation of hemorrhoids on bleeding, prolapse, quality of life, and recurrence: “no pain, no gain” or “no pain but a gain”?
Annals of Coloproctology·2022· 6 citedOpen Access
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Frequent Co-authors

Dominique Larrey(9), Guillaume Pineton de Chambrun(5), Laurent Peyrin‐Biroulet(5), Jean-Christophe Valats(4), H Michel(4), Filip Baert(4), Laurent Beaugerie(4), Aurélien Amiot(4), H Michel(4), R Pierrugues(4), Michaël Bismuth(3), Natalie Funakoshi(3), P Bories(3), Thierry Lavabre‐Bertrand(3), Jean‐François Rahier(3), Julien Kirchgesner(3), Konstantinos Κarmiris(3), Glen Doherty(3), Tamás Molnár(3), Mark Löwenberg(3)