Concepedia
Statistics
Publications
3
Citations
180
H-Index
Active since
2012
Affiliations
Inserm(Current)
Université Paris Cité
Sorbonne Université
Délégation Paris 5
Hôpital Necker-Enfants Malades
Julie Litzler is an author at Inserm specializing in molecular genetics, exome sequencing, and genetics.
Publications per year
2012–2018
A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 128 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Novel <i>KIF7</i> mutations extend the phenotypic spectrum of acrocallosal syndrome
Audrey Putoux, Sheela Nampoothiri, Nicole Laurent et al. · Journal of Medical Genetics · 2012 · 41 citations
Medicine, Genetics, Molecular Genetics +17
High prevalence of congenital deafness on Reunion Island is due to a founder variant of <i>LHFPL5</i>
Justine Lerat, Crystel Bonnet, François Cartault et al. · Clinical Genetics · 2018 · 11 citations
Life Sciences, Genetics, Molecular Genetics +16
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