Jean-Louis Mandel

发表

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms

Pierre Parrend, Pierre Collet, Timothée Mazzucotelli, 2017, Journal of Medical Systems.

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.

Olivier Poch, Frédéric Chalmel, Aurélie Lardenois, 2006, Human molecular genetics.

SM2PH‐db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases

Olivier Poch, Anne Friedrich, Emmanuel Bettler, 2010, Human mutation.

Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics

Henrik Westerberg, John M. Hancock, Oliver Eickelberg, 2015, Nature Genetics.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient.

Annalisa Pastore, Jean-Louis Mandel, A. Pastore, 2007, Journal of molecular biology.

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

Làszlò Tora, Jean-Louis Mandel, J. Mandel, 2004, Human molecular genetics.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Jocelyn Laporte, Jean-Louis Mandel, Alessandra Bolino, 2003, Human molecular genetics.

Polyglutamines, nuclear inclusions and neurodegeneration

Jean-Louis Mandel, J. Mandel, A. Lunkes, 1997, Nature Medicine.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Yves Agid, Jean-Louis Mandel, Gaël Yvert, 1996, Nature Genetics.

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Jean Mosser, Hugo Moser, Jean-Louis Mandel, 1993, Nature.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Jocelyn Laporte, Jean Muller, 2012, Acta Neuropathologica.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Claire Redin, Jean-Louis Mandel, J. Mandel, 2013, American journal of human genetics.