Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

N. Fonknechten · SciRah

Researcher profile · Semantic Scholar

N. Fonknechten

Share profile

N. Fonknechten — researcher profile on SciRah

h-index: 17
Works: 33
Citations: 3,899

Most-cited papers

Deciphering the evolution and metabolism of an anammox bacterium from a community genome
M. Strous, É. Pelletier, S. Mangenot, T. Rattei +33 more
2006Nature1,279 citations
Semantic Scholar
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
J. Hazan, N. Fonknechten, D. Mavel, C. Paternotte +15 more
1999Nature Genetics666 citations
Semantic Scholar
Unique features revealed by the genome sequence of Acinetobacter sp. ADP1, a versatile and naturally transformation competent bacterium.
V. Barbe, D. Vallenet, N. Fonknechten, A. Kreimeyer +11 more
2004Nucleic Acids Research394 citations Open access
Semantic Scholar
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
N. Fonknechten, D. Mavel, P. Byrne, C. Davoine +18 more
2000Human Molecular Genetics302 citations Open access
Semantic Scholar
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
A. Tarrade, C. Fassier, Sabrina Courageot, D. Charvin +10 more
2006Human Molecular Genetics197 citations Open access
Semantic Scholar
Clostridium sticklandii, a specialist in amino acid degradation:revisiting its metabolism through its genome sequence
N. Fonknechten, Sébastien Chaussonnerie, S. Tricot, Aurélie Lajus +10 more
2010BMC Genomics178 citations Open access
Semantic Scholar
Metabolic diversity among main microorganisms inside an arsenic-rich ecosystem revealed by meta- and proteo-genomics
P. Bertin, Audrey Heinrich-Salmeron, É. Pelletier, F. Goulhen-Chollet +24 more
2011The ISME Journal167 citations Open access
Semantic Scholar
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
M. Chillón, T. Dörk, T. Casals, J. Giménez +5 more
1995American Journal of Human Genetics127 citations
Semantic Scholar
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
J. Bürger, N. Fonknechten, M. Hoeltzenbein, Luitgart Neumann +3 more
2000European Journal of Human Genetics101 citations
Semantic Scholar
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
D. Charvin, C. Cifuentes-Díaz, N. Fonknechten, V. Joshi +3 more
2003Human Molecular Genetics92 citations Open access
Semantic Scholar
The DNA sequence and analysis of human chromosome 14
R. Heilig, R. Eckenberg, Jean-Louis Petit, N. Fonknechten +95 more
2003Nature76 citations Open access
Semantic Scholar
Microbial Degradation of a Recalcitrant Pesticide: Chlordecone
Sébastien Chaussonnerie, Pierre-Loïc Saaidi, Edgardo Ugarte, Agnès Barbance +13 more
2016Frontiers in Microbiology58 citations Open access
Semantic Scholar
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
A. Abel, N. Fonknechten, A. Hofer, A. Dürr +7 more
2004Neurogenetics55 citations
Semantic Scholar
A Conserved Gene Cluster Rules Anaerobic Oxidative Degradation of l-Ornithine
N. Fonknechten, Alain Perret, Nadia Perchat, S. Tricot +7 more
2009Journal of Bacteriology48 citations Open access
Semantic Scholar
Natural Chlordecone Degradation Revealed by Numerous Transformation Products Characterized in Key French West Indies Environmental Compartments.
Marion Chevallier, Oriane Della-Negra, Sébastien Chaussonnerie, Agnès Barbance +13 more
2019Environmental Science and Technology39 citations Open access
Semantic Scholar
Transformation of the recalcitrant pesticide chlordecone by Desulfovibrio sp.86 with a switch from ring-opening dechlorination to reductive sulfidation activity
Oriane Della-Negra, Sébastien Chaussonnerie, N. Fonknechten, Agnès Barbance +6 more
2020Scientific Reports19 citations Open access
Semantic Scholar
Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.
N. Fonknechten, J. Chomel, Alain Kitzis, A. Kahn +1 more
1992Human Molecular Genetics19 citations
Semantic Scholar
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
J. Hazan, C. Davoine, D. Mavel, N. Fonknechten +11 more
1999Genomics16 citations
Semantic Scholar
Cutis laxa and the Costello syndrome
T. Bienvenu, C. Beldjord, N. Fonknechten, J. Kaplan +1 more
16 citations
Semantic Scholar
Analysis of Alternative Splicing Patterns in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using mRNA Derived from Lymphoblastoid Cells of Cystic Fibrosis Patients
T. Bienvenu, C. Beldjord, J. Chelly, N. Fonknechten +3 more
1996European Journal of Human Genetics13 citations
Semantic Scholar
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Thierry Bienvenu, Chérif Beldjord, N. Fonknechten, J. Kaplan +1 more
1993Journal of Medical Genetics13 citations Open access
Semantic Scholar
Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene
T. Bienvenu, D. Hubert, N. Fonknechten, D. Dusser +2 more
1994Human Genetics8 citations
Semantic Scholar
CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts
N. Fonknechten, J. Chelly, J. Lepercq, A. Kahn +3 more
1992Human Genetics8 citations
Semantic Scholar
Genetic Analysis of Citrobacter sp.86 Reveals Involvement of Corrinoids in Chlordecone and Lindane Biotransformations
Agnès Barbance, Oriane Della-Negra, Sébastien Chaussonnerie, Valérie A. Delmas +7 more
2020Frontiers in Microbiology5 citations Open access
Semantic Scholar
Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals.
N. Fonknechten, Thierry Bienvenu, Christine Moriscot, Chérif Beldjord +3 more
1993Human Molecular Genetics4 citations
Semantic Scholar
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene
Thierry Bienvenu, G. Lenoir, N. Fonknechten, F. Desclaux‐Arramond +2 more
1994Human Mutation2 citations
Semantic Scholar
Publisher Correction: The DNA sequence and analysis of human chromosome 14
Roland Heilig, R. Eckenberg, Jean-Louis Petit, N. Fonknechten +95 more
2023Nature0 citations Open access
Semantic Scholar
A Conserved Gene Cluster Rules Anaerobic Oxidative Degradation of L-Ornithine
N. Fonknechten, Alain Perret, Nadia Perchat, Sabine Tricot +7 more
20080 citations
Semantic Scholar
A Novel Donor Splice Site in Intron I I of the CFTR Gene, Created by Mutation
M. Chillón, T. Dörk, T. Casals, J. Giménez +5 more
20070 citations
Semantic Scholar
Séquençage du génome humain : le chromosome 14, quatrième chromosome terminé
R. Heilig, N. Fonknechten
20030 citations Open access
Semantic Scholar
[Sequencing the human genome: chromosome 14, the 4th chromosome completed].
R. Heilig, N. Fonknechten
2003Medecine sciences : M/S0 citations
Semantic Scholar
[Illegitimate transcription: discovery and application to gene molecular pathology].
J. Kaplan, J. Chelly, H. Gilgenkrantz, N. Fonknechten +1 more
1992Comptes rendus des seances de la Societe de biologie et de ses filiales0 citations
Semantic Scholar
LETTERS TO THE EDITOR Cystic fibrosis and deafness
Thierry Bienvenu, Chérif Beldjord, N. Fonknechten, J. Kaplan +1 more
0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

D. Le Paslier×9
Invite
D. Le Paslier — researcher profile on SciRah
J. Weissenbach×8
Invite
J. Weissenbach — researcher profile on SciRah
V. Barbe×7
Invite
V. Barbe — researcher profile on SciRah
D. Muselet×7
Invite
D. Muselet — researcher profile on SciRah

×6

Invite

J. Hazan — researcher profile on SciRah

Invite

J. Kaplan — researcher profile on SciRah

É. Pelletier×5

Invite

É. Pelletier — researcher profile on SciRah

Invite

P. Wincker — researcher profile on SciRah

Invite

D. Vallenet — researcher profile on SciRah

Sébastien Chaussonnerie×5

Invite

Sébastien Chaussonnerie — researcher profile on SciRah

Christophe Lechaplais×4

Invite

Christophe Lechaplais — researcher profile on SciRah

Invite

G. Gyapay — researcher profile on SciRah