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N. Lebrun · SciRah

Researcher profile · Semantic Scholar

N. Lebrun

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N. Lebrun — researcher profile on SciRah

h-index: 14
Works: 22
Citations: 1,892

Most-cited papers

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
K. Poirier, N. Lebrun, Loïc Broix, G. Tian +31 more
2013Nature Genetics450 citations Open access
Semantic Scholar
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu, S. Haas, J. Chelly, H. Van Esch +80 more
2015Molecular Psychiatry296 citations Open access
Semantic Scholar
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
N. Bahi-buisson, K. Poirier, F. Fourniol, Y. Saillour +10 more
2014Brain : a journal of neurology288 citations
Semantic Scholar
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
K. Poirier, Y. Saillour, N. Bahi-buisson, X. Jaglin +13 more
2010Human Molecular Genetics264 citations Open access
Semantic Scholar
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
G. Zanni, Tito Calì, V. Kalscheuer, Denis Ottolini +8 more
2012Proceedings of the National Academy of Sciences of the United States of America117 citations Open access
Semantic Scholar
Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stephane Schmucker +35 more
2016Nature Genetics111 citations Open access
Semantic Scholar
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hiromi Hirata, I. Nanda, A. van Riesen, G. McMichael +40 more
2013American Journal of Human Genetics84 citations Open access
Semantic Scholar
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
Y. Saillour, Loïc Broix, E. Bruel-Jungerman, N. Lebrun +6 more
2014Human Molecular Genetics63 citations Open access
Semantic Scholar
Variants in CUL4B are Associated with Cerebral Malformations
A. T. Vulto-van Silfhout, T. Nakagawa, N. Bahi-buisson, S. Haas +41 more
2015Human Mutation48 citations Open access
Semantic Scholar
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development
Loïc Broix, Laure Asselin, Carla G. Silva, Ekaterina L. Ivanova +16 more
2017Human Molecular Genetics40 citations Open access
Semantic Scholar
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Julia Lauer Zillhardt, K. Poirier, Loïc Broix, N. Lebrun +32 more
2015European Journal of Human Genetics37 citations Open access
Semantic Scholar
Expanding the clinical phenotype of patients with a ZDHHC9 mutation
A. Masurel‐Paulet, V. Kalscheuer, N. Lebrun, Hao Hu +13 more
2014American Journal of Medical Genetics. Part A33 citations Open access
Semantic Scholar
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria
S. Valence, K. Poirier, N. Lebrun, Y. Saillour +8 more
2013Neurogenetics30 citations
Semantic Scholar
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
C. Nava, J. Rupp, J. Boissel, C. Mignot +20 more
2015Amino Acids19 citations Open access
Semantic Scholar
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
V. Kalscheuer, Z. Iqbal, Hao Hu, S. Haas +12 more
20136 citations
Semantic Scholar
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria
S. Valence, K. Poirier, N. Lebrun, Y. Saillour +8 more
2013Neurogenetics4 citations
Semantic Scholar
Next-generation sequencing in >240 families with X-linked intellectual disability
V. Kalscheuer, Hao Hu, S. Haas, J. Chelly +41 more
20131 citations
Semantic Scholar
Massively parallel sequencing in >250 families with X-linked intellectual disability
V. Kalscheuer, Hao Hu, S. Haas, J. Chelly +70 more
20111 citations
Semantic Scholar
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
C. Nava, J. Rupp, J. Boissel, C. Mignot +20 more
2015Amino Acids0 citations Open access
Semantic Scholar
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
K. Poirier, N. Lebrun, Loïc Broix, G. Tian +31 more
2013Nature Genetics0 citations Open access
Semantic Scholar
Systematic mutation search in families with X-linked intellectual disability by nextgeneration sequencing
V. Kalscheuer, C. Hu, S. Haas, Corinna Menzel +21 more
20110 citations
Semantic Scholar
Systematic mutation search in families with X-linked mental retardation by next-generation sequencing
V. Kalscheuer, Wei Chen, S. Haas, Hao Hu +15 more
20100 citations
Semantic Scholar

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