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Dominique Paul Germain (Dominique P Germain, D P Germain)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 14

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

Molecular genetics & genomic medicine

Journal of medical genetics

Clinical genetics

Paris-Saclay University, Université of Versailles Saint-Quentin-en-Yvelines

Université Paris VII Denis Diderot UFR Sciences du Vivant (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Paris-Saclay University, Université of Versailles Saint-Quentin-en-Yvelines Sep 1o 2007

France

Professor

Education History

Université Paris VII Denis Diderot UFR Sciences du Vivant Nov 1o 1994

France

PHD :: Human Genetics

Publications

Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit Mehta, Patrick B Deegan, Maria Judit Molnar, Damara Ortiz, Ana Jovanovic, Michael Muriello, Bruce A Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G Warnock
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. Journal of medical genetics (2023)
Emanuele Monda, Gaetano Diana, Francesco Mariani, Marta Rubino, Athanasios Bakalakos, Ales Linhart, Dominique Paul Germain, Maurizio Scarpa, Elena Biagini, Maurizio Pieroni, Perry Mark Elliott, Giuseppe Limongelli
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies. Circulation. Genomic and precision medicine (2023)
Sergey Moiseev, Ekaterina Tao, Alexey Moiseev, Nikolay Bulanov, Ekaterina Filatova, Victor Fomin, Dominique Paul Germain
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients. Genes 13 (9) (2022)
Dominique Paul Germain, Thierry Levade, Eric Hachulla, Bertrand Knebelmann, Didier Lacombe, Vanessa Leguy Seguin, Karine Nguyen, Esther Noël, Jean-Pierre Rabès
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. Clinical genetics 101 (4) (2021)
Lavinia Bernea, Oana R Ailioaie, Nadine Benhamouda, Eric Tartour, Dominique Paul Germain
Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens. Vaccines 9 (12) (2021)
Dominique Paul Germain, Sergey Moiseev, Fernando Suárez-Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau-Ming Niu, Juan Politei, Long-Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease. Molecular genetics & genomic medicine 9 (5) (2021)
Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique Paul Germain, Alberto B Burlina
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience. Biomolecules 11 (7) (2021)
Dominique Paul Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. Journal of medical genetics 57 (8) (2020)
Dominique Paul Germain, Alain Fouilhoux, Stéphane Decramer, Marine Tardieu, Pascal Pillet, Marc Fila, Serge Rivera, Georges Deschênes, Didier Lacombe
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clinical genetics 96 (2) (2019)
Dominique Paul Germain, Kathy Nicholls, Roberto Giugliani, Daniel G Bichet, Derralynn A Hughes, Laura M Barisoni, Robert B Colvin, J Charles Jennette, Nina Skuban, Jeffrey P Castelli, Elfrida Benjamin, Jay A Barth, Christopher Viereck
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study. Genetics in medicine : official journal of the American College of Medical Genetics 21 (9) (2019)
Dominique Paul Germain, Eva Brand, Alessandro Burlina, Franco Cecchi, Scott C Garman, Judy Kempf, Dawn A Laney, Aleš Linhart, László Maródi, Kathy Nicholls, Alberto Ortiz, Federico Pieruzzi, Suma P Shankar, Stephen Waldek, Christoph Wanner, Ana Jovanovic
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Molecular genetics & genomic medicine (2018)
Renzo Manara, R Y Carlier, S Righetto, V Citton, G Locatelli, F Colas, M Ermani, Dominique Paul Germain, Alessandro P Burlina
Basilar Artery Changes in Fabry Disease. AJNR. American journal of neuroradiology 38 (3) (2017)
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique Paul Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)
Elfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, Evan Katz, Farhana Pruthi, Sarah Bond, Benjamin Bronfin, Hadis Williams, Julie Yu, Daniel G Bichet, Dominique Paul Germain, Roberto Giugliani, Derralynn A Hughes, Raphael Schiffmann, William Ross Wilcox, Robert J Desnick, John Kirk, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, Jeff Castelli, David J Lockhart
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)

Dominique Paul Germain.css-eqlu8i{font-size:small;padding-left:4px;} (Dominique P Germain, D P Germain)

Publication Activity (10 Years)

Top Topics

Top Venues

Dominique Paul Germain (Dominique P Germain, D P Germain)