Concepedia
Statistics
Publications
7
Citations
1K
H-Index
Active since
1999
Affiliations
Inserm(Current)
Pitié-Salpêtrière Hospital
Sorbonne Université
Radboud Institute for Molecular Life Sciences
Université Paris Cité
Alexandra Dürr is an author at Inserm specializing in life sciences, genetics, and medical genetics.
Publications per year
1999–2023
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
Jamïlé Hazan, Núria Fonknechten, Delphine Mavel et al. · Nature Genetics · 1999 · 633 citations
Medicine, Neurology, Neuroscience +4
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
Mohamad Saad, Suzanne Lesage, Aude Saint-Pierre et al. · Human Molecular Genetics · 2010 · 161 citations · Full text
Life Sciences, Genetics, Neurology +17
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text
Life Sciences, Bioinformatics, Biomedical Informatics +15
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 29 citations · Full text
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