Laurence Pacot

ScholarGPS® ID: 40461515020579

Affiliation

Institut National de la Santé et de la Recherche Médicale, France

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metabolism | Mutation

Metrics Summary

Publication Count

Predicted Citations

151

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review (journal article) Pacot, Laurence \| Girish, Milind \| Knight, Samantha \| Spurlock, Gill \| Varghese, Vinod \| Ye, Manuela \| Thomas, Nick \| Pasmant, Eric \| Upadhyaya, Meena BMC Medical Genomics, volume 17, issue 1 (2024). 10.1186/s12920-024-01843-5 Cite \| Source
Breast cancer risk in NF1 -deleted patients (journal article) Pacot, Laurence \| Masliah-Planchon, Julien \| Petcu, Adina \| Terris, Benoit \| Gauthier Villars, Marion \| Lespinasse, James \| Wolkenstein, Pierre \| Vincent-Salomon, Anne \| Vidaud, Dominique \| Pasmant, Eric Journal of Medical Genetics (2023). 10.1136/jmg-2023-109682 Cite \| Source
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta (journal article) Resende, Kemelly Karolliny Moreira \| Riou, Margot Charlotte \| Yamaguti, Paulo Marcio \| Fournier, Benjamin \| Rondeau, Sophie \| Pacot, Laurence \| Berdal, Ariane \| Felizardo, Rufino \| Mazzeu, Juliana Forte \| Cormier-Daire, Valérie \| ... \| de La Dure-Molla, Muriel European Journal of Human Genetics, volume 31, issue 11, pages 1337-1341 (2023). 10.1038/s41431-023-01440-7 Cited by (1) \| Cite \| Source
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant (journal article) Huby, Thomas \| Le Guillou, Edouard \| Burin des Roziers, Cyril \| Pacot, Laurence \| Briand-Suleau, Audrey \| Chansavang, Albain \| Toussaint, Aurélie \| Duchossoy, Véronique \| Vaucouleur, Nicolas \| Benoit, Virginie \| ... \| Pasmant, Eric The Journal of Clinical Endocrinology & Metabolism, volume 107, issue 4, pages e1367-e1373 (2022). 10.1210/clinem/dgab894 Cited by (1) \| Cite \| Source
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study (journal article) Forde, Claire \| Burkitt-Wright, Emma \| Turnpenny, Peter D. \| Haan, Eric \| Ealing, John \| Mansour, Sahar \| Holder, Muriel \| Lahiri, Nayana \| Dixit, Abhijit \| Procter, Annie \| ... \| Upadhyaya, Meena European Journal of Human Genetics, volume 30, issue 3, pages 291-297 (2022). 10.1038/s41431-021-01015-4 Cited by (7) \| Cite \| Source
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors (journal article) Herrou, Julia \| Picaud, Axelle Salcion \| Lassalle, Louis \| Pacot, Laurence \| Chaussain, Catherine \| Merzoug, Valérie \| Hervé, Agathe \| Gadion, Margaux \| Rothenbuhler, Anya \| Kamenický, Peter \| ... \| Briot, Karine The Journal of Clinical Endocrinology & Metabolism, volume 107, issue 1, pages e224-e235 (2022). 10.1210/clinem/dgab580 Cited by (16) \| Cite \| Source
Étude de 1333 patients atteints de neurofibromatose de type 1 à la recherche de modificateurs génétiques des neurofibromes cutanés, sous-cutanés et plexiformes (journal article) Pacot, Laurence \| Sabbagh, Audrey \| Parfait, Béatrice \| Sohier, Pierre \| Boland-Augé, Anne \| Bacq-Daian, Delphine \| Laurendeau, Ingrid \| Ferkal, Salah \| Briand-Suleau, Audrey \| Allanore, Laurence \| ... \| Wolkenstein, Pierre Annales de Dermatologie et de Vénéréologie - FMC, volume 1, issue 8, pages A129- (2021). 10.1016/j.fander.2021.09.561 Cite \| Source
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation (journal article) Carion, Nathalie \| Briand, Audrey \| Cuisset, Laurence \| Pacot, Laurence \| Afenjar, Alexandra \| Bienvenu, Thierry Gene, volume 753 (2020). 10.1016/j.gene.2020.144793 Cited by (2) \| Cite \| Source
Troisième édition du CoBioMe Congrès des internes de Biologie médicale Paris, 7 mars 2020 (journal article) Marchionini, Charles \| Caillault, Amandine \| Cocherie, Théophile \| Devaux, Floriane \| Larcher, Lise \| Le Guillou, Edouard \| Monpierre, Lorra \| Mory, Céline \| Moulin, Clémentine \| Pacot, Laurence \| ... \| Walle, Eve-Marie Annales de Biologie Clinique, volume 78, issue 2, pages 211-222 (2020). 10.1684/abc.2020.1541 Cite \| Source
Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in Clinically Amyopathic Dermatomyositis Patients: Report of Two Cases With Distinct Clinical Features (journal article) Pacot, Laurence \| Pouchot, Jacques \| De Prost, Nicolas \| Senant, Marie \| Tartour, Eric \| Le Pimpec-Barthes, Françoise \| Israel-Biet, Dominique \| Dragon-Durey, Marie-Agnes Frontiers in Medicine, volume 7 (2020). 10.3389/fmed.2020.00077 Cited by (12) \| Cite \| Source
Should we genotype the sperm of fathers from patients with ‘de novo’ mutations? (journal article) Pasmant, Eric \| Pacot, Laurence European Journal of Endocrinology, volume 182, issue 1, pages C1-C3 (2020). 10.1530/EJE-19-0759 Cited by (12) \| Cite \| Source
La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification des modificateurs génétiques de l’expression clinique de la maladie (journal article) Sabbagh, A. \| Pacot, L. \| Parfait, B. \| Boland-Auge, A. \| Bacq-Daian, D. \| Laurendeau, I. \| Ferkal, S. \| Briand, A. \| Allanore, L. \| Deleuze, J.F. \| ... \| Wolkenstein, P. Annales de Dermatologie et de Vénéréologie, volume 146, issue 12, pages A111-A112 (2019). 10.1016/j.annder.2019.09.121 Cite \| Source
One NF1 Mutation may Conceal Another (journal article) Pacot, Laurence \| Burin des Roziers, Cyril \| Laurendeau, Ingrid \| Briand-Suleau, Audrey \| Coustier, Audrey \| Mayard, Théodora \| Tlemsani, Camille \| Faivre, Laurence \| Thomas, Quentin \| Rodriguez, Diana \| ... \| Pasmant, Eric Genes, volume 10, issue 9, pages 633- (2019). 10.3390/genes10090633 Cited by (4) \| Cite \| Source
Dosage Thresholds and Influence of Transgene Cassette in Adeno-Associated Virus–Related Toxicity (journal article) Khabou, Hanen \| Cordeau, Chloé \| Pacot, Laure \| Fisson, Sylvain \| Dalkara, Deniz Human Gene Therapy, volume 29, issue 11, pages 1235-1241 (2018). 10.1089/hum.2018.144 Cited by (56) \| Cite \| Source
Study of two comparison procedures applied to biochemical results from twin analyzers (journal article) Larcher, Lise \| Pacot, Laurence \| Bailleul, Sophie \| Lefèvre, Guillaume Annales de biologie clinique, volume 75, issue 5, pages 589-594 (2017). 10.1684/abc.2017.1276 Cite \| Source
Discovery of diabetes in the elderly: what diagnosis? (journal article) Lévy, Pacifique \| Pacot, Laurence \| Bastard, Jean-Philippe \| Vatier, Camille Annales de biologie clinique, volume 75, issue 2, pages 222-224 (2017). 10.1684/abc.2017.1234 Cite \| Source