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D. Germain · SciRah

Researcher profile · Semantic Scholar

D. Germain

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D. Germain — researcher profile on SciRah

h-index: 54
Works: 237
Citations: 11K

Most-cited papers

Fabry disease revisited: Management and treatment recommendations for adult patients.
A. Ortiz, D. Germain, R. Desnick, J. Politei +10 more
2018Molecular Genetics and Metabolism585 citations Open access
Semantic Scholar
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
D. Germain, D. Hughes, K. Nicholls, D. Bichet +36 more
2016New England Journal of Medicine470 citations Open access
Semantic Scholar
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
D. Hughes, K. Nicholls, S. Shankar, G. Sunder-Plassmann +34 more
2016Journal of Medical Genetics348 citations Open access
Semantic Scholar
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
D. Germain, J. Charrow, R. Desnick, N. Guffon +10 more
2015Journal of Medical Genetics335 citations Open access
Semantic Scholar
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
M. Biegstraaten, R. Arngrímsson, F. Barbey, L. Boks +30 more
2015Orphanet Journal of Rare Diseases329 citations Open access
Semantic Scholar
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Elfrida R. Benjamin, M. C. Della Valle, Xiao-Yang Wu, Evan Katz +18 more
2016Genetics in Medicine204 citations Open access
Semantic Scholar
European expert consensus statement on therapeutic goals in Fabry disease.
C. Wanner, M. Arad, R. Baron, A. Burlina +21 more
2018Molecular Genetics and Metabolism179 citations Open access
Semantic Scholar
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
D. Germain, P. Elliott, B. Falissard, V. Fomin +12 more
2019Molecular Genetics and Metabolism Reports165 citations Open access
Semantic Scholar
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
A. Ortiz, Ademola K. Abiose, D. Bichet, G. Cabrera +14 more
2016Journal of Medical Genetics144 citations Open access
Semantic Scholar
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
D. Germain, A. Fouilhoux, S. Décramer, M. Tardieu +5 more
2019Clinical Genetics143 citations Open access
Semantic Scholar
Pseudoxanthoma elasticum
D. Germain
2017Orphanet Journal of Rare Diseases127 citations Open access
Semantic Scholar
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
D. Germain, G. Altarescu, R. Barriales-Villa, R. Mignani +5 more
2022Molecular Genetics and Metabolism112 citations Open access
Semantic Scholar
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
D. Germain, E. Brand, A. Burlina, F. Cecchi +12 more
2018Molecular Genetics & Genomic Medicine104 citations Open access
Semantic Scholar
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
J. Politei, D. Bouhassira, D. Germain, C. Goizet +8 more
2016CNS Neuroscience & Therapeutics101 citations Open access
Semantic Scholar
Fabry disease in cardiology practice: Literature review and expert point of view.
A. Hagège, P. Réant, G. Habib, T. Damy +4 more
2019Archives of Cardiovascular Diseases97 citations Open access
Semantic Scholar
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.
D. Germain, M. Arad, A. Burlina, P. Elliott +8 more
2019Molecular Genetics and Metabolism89 citations Open access
Semantic Scholar
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
D. Germain, T. Levade, E. Hachulla, B. Knebelmann +5 more
2021Clinical Genetics84 citations Open access
Semantic Scholar
Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum
A. Legrand, L. Cornez, Waf Samkari, J. Mazzella +9 more
2017Genetics in Medicine74 citations Open access
Semantic Scholar
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Magali Pettazzoni, R. Froissart, C. Pagan, M. Vanier +9 more
2017PLoS ONE73 citations Open access
Semantic Scholar
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
D. Germain, J. Oliveira, D. Bichet, H. Yoo +6 more
2020Journal of Medical Genetics70 citations Open access
Semantic Scholar
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
C. Auray-Blais, Catherine-Marie Blais, U. Ramaswami, Michel Boutin +10 more
2015Clinica chimica acta; international journal of clinical chemistry70 citations
Semantic Scholar
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
M. Spada, R. Baron, P. Elliott, B. Falissard +6 more
2019Molecular Genetics and Metabolism65 citations Open access
Semantic Scholar
Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
K. Hankiewicz, R. Carlier, L. Lazaro, J. Linzoain +11 more
2015Muscle and Nerve55 citations
Semantic Scholar
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
D. Germain, S. Moiseev, F. Suárez-Obando, F. al Ismaili +15 more
2021Molecular Genetics & Genomic Medicine50 citations Open access
Semantic Scholar
Venglustat, an orally administered glucosylceramide synthase inhibitor: assessment over 3 years in adult males with classic Fabry disease in an open-label Phase 2 study and its extension study
P. Deegan, O. Goker-Alpan, T. Geberhiwot, R. Hopkin +13 more
2022Molecular Genetics and Metabolism46 citations Open access
Semantic Scholar
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
V. Gragnaniello, A. Burlina, G. Polo, A. Giuliani +7 more
2021Biomolecules45 citations Open access
Semantic Scholar
Determinants of white matter hyperintensity burden in patients with Fabry disease
N. Rost, L. Cloonan, A. Kanakis, K. Fitzpatrick +9 more
2016Neurology42 citations Open access
Semantic Scholar
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
C. Wanner, A. Ortiz, W. Wilcox, R. Hopkin +13 more
2023Molecular Genetics and Metabolism36 citations Open access
Semantic Scholar
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
C. Semplicini, Pascaline Létard, M. de Antonio, N. Taouagh +58 more
2018Journal of Inherited Metabolic Disease36 citations
Semantic Scholar
Diagnosis and Management of Cardiovascular Involvement in Fabry Disease.
M. Rubino, E. Monda, M. Lioncino, M. Caiazza +16 more
2021Heart Failure Clinics28 citations
Semantic Scholar
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
J. Mortreux, T. Busa, D. Germain, G. Nadeau +11 more
2017European Journal of Human Genetics28 citations Open access
Semantic Scholar
Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis
C. Wanner, U. Feldt-Rasmussen, A. Jovanović, A. Linhart +12 more
2020ESC Heart Failure26 citations Open access
Semantic Scholar
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
R. Hopkin, G. Cabrera, J. Jefferies, Meng Yang +14 more
2022Molecular Genetics and Metabolism25 citations Open access
Semantic Scholar
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
J. Oliveira, A. Nowak, F. Barbey, Márcia Torres +13 more
2020European Journal of Medical Genetics25 citations Open access
Semantic Scholar
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
W. Wilcox, U. Feldt-Rasmussen, A. Martins, A. Ortiz +7 more
2018JIMD Reports25 citations Open access
Semantic Scholar
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
C. Papadopoulos, D. Orlikowski, H. Prigent, A. Lacour +57 more
2016Molecular Genetics and Metabolism25 citations
Semantic Scholar
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
L. El Khattabi, S. Jaillard, J. Andrieux, L. Pasquier +26 more
2015American Journal of Medical Genetics. Part A25 citations Open access
Semantic Scholar
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
N. Ghali, D. Baker, A. Brady, N. Burrows +16 more
2019Genetics in Medicine22 citations Open access
Semantic Scholar
Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy.
C. Wanner, D. Germain, M. Hilz, M. Spada +2 more
2019Molecular Genetics and Metabolism18 citations Open access
Semantic Scholar
Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients
C. Orssaud, O. Roche, J. Dufier, D. Germain
2015Ophthalmic Genetics18 citations
Semantic Scholar
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
S. Moiseev, Ekaterina Tao, A. Moiseev, N. Bulanov +3 more
2022Genes17 citations Open access
Semantic Scholar
Principles of Human Genetics and Mendelian Inheritance
D. Germain, I. E. Jurca-Simina
201816 citations
Semantic Scholar
Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
Dawn A. Laney, D. Germain, J. Oliveira, A. Burlina +9 more
2021Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Why systematic literature reviews in fabry disease should include all published evidence.
P. Elliott, D. Germain, M. Hilz, M. Spada +2 more
2019European Journal of Medical Genetics15 citations Open access
Semantic Scholar
Screening for Fabry disease in male patients with end-stage renal disease in western France.
C. Vigneau, D. Germain, D. Larmet, F. Jabbour +1 more
2021Néphrologie & Thérapeutique14 citations Open access
Semantic Scholar
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
R. Hopkin, U. Feldt-Rasmussen, D. Germain, A. Jovanović +9 more
2020Molecular Genetics and Metabolism Reports13 citations Open access
Semantic Scholar
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire
Esther Noël, B. Dussol, D. Lacombe, Najya Bedreddine +9 more
2019Orphanet Journal of Rare Diseases10 citations Open access
Semantic Scholar
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
B. Thurberg, D. Germain, F. Perretta, I. E. Jurca-Simina +1 more
2016Molecular Genetics and Metabolism Reports10 citations Open access
Semantic Scholar
Clinical utility gene card for: Fabry disease – update 2016
A. Gal, Michael Beck, W. Höppner, D. Germain
2017European Journal of Human Genetics9 citations Open access
Semantic Scholar
Case Report: First Two Identified Cases of Fabry Disease in Central Asia
F. Cainelli, Dias Argandykov, Dauren Kaldarbekov, M. Mukarov +2 more
2021Frontiers in Genetics7 citations Open access
Semantic Scholar

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