Concepedia
Statistics
Publications
4
Citations
477
H-Index
Active since
2010
Affiliations
Inserm(Current)
Institut de génétique et de biologie moléculaire et cellulaire
Hôpitaux Universitaires de Strasbourg
Université de Strasbourg
Centre National de la Recherche Scientifique
Julia Lauer is an author at Inserm specializing in molecular genetics, genetics, and genetic disorders.
Publications per year
2010–2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Amélie Piton, Hélène Poquet, Claire Redin et al. · European Journal of Human Genetics · 2013 · 85 citations
Life Sciences, Genetics, Molecular Genetics +10
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
Élise Schaefer, Ariane Zaloszyc, Julia Lauer et al. · Molecular Syndromology · 2010 · 79 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with <i><scp>LZTFL1</scp></i> (<i><scp>BBS17</scp></i>) mutations
Élise Schaefer, Julia Lauer, M. Durand et al. · Clinical Genetics · 2013 · 40 citations
Life Sciences, Genetics, Molecular Genetics +14
1–4 of 4