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A. Pelet · SciRah

Researcher profile · Semantic Scholar

A. Pelet

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A. Pelet — researcher profile on SciRah

h-index: 39
Works: 96
Citations: 9,446

Most-cited papers

Hirschsprung disease, associated syndromes and genetics: a review
J. Amiel, E. Sproat-Emison, M. Garcia-Barcelo, F. Lantieri +20 more
2001Journal of Medical Genetics1,167 citations Open access
Semantic Scholar
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
F. Rousseau, J. Bonaventure, L. Legeai-Mallet, A. Pelet +4 more
1994Nature918 citations
Semantic Scholar
Mutations of the RET proto-oncogene in Hirschsprung's disease
P. Edery, S. Lyonnet, L. Mulligan, A. Pelet +6 more
1994Nature751 citations
Semantic Scholar
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
P. Edery, T. Attié, J. Amiel, A. Pelet +6 more
1996Nature Genetics447 citations
Semantic Scholar
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S. Benko, J. Fantes, J. Amiel, D. Kleinjan +28 more
2009Nature Genetics425 citations
Semantic Scholar
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
P. Ferguson, Shan Chen, Marwan K. Tayeh, L. Ochoa +6 more
2005Journal of Medical Genetics375 citations Open access
Semantic Scholar
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
T. Attié, A. Pelet, P. Edery, C. Eng +8 more
1995Human Molecular Genetics354 citations
Semantic Scholar
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
R. Lyle, F. Béna, S. Gagos, C. Gehrig +24 more
2009European Journal of Human Genetics302 citations Open access
Semantic Scholar
Segregation at three loci explains familial and population risk in Hirschsprung disease
S. Gabriel, R. Salomon, A. Pelet, M. Angrist +10 more
2002Nature Genetics270 citations Open access
Semantic Scholar
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
E. Emison, M. Garcia-Barcelo, E. Grice, F. Lantieri +21 more
2010American Journal of Human Genetics244 citations Open access
Semantic Scholar
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
R. Salomon, T. Attié, A. Pelet, C. Bidaud +8 more
1996Nature Genetics232 citations
Semantic Scholar
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
T. Attié, M. Till, A. Pelet, J. Amiel +4 more
1995Human Molecular Genetics230 citations
Semantic Scholar
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
D. Sanlaville, H. Etchevers, M. Gonzalès, J. Martinovic +21 more
2005Journal of Medical Genetics223 citations Open access
Semantic Scholar
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
S. Bolk, A. Pelet, R. Hofstra, M. Angrist +5 more
2000Proceedings of the National Academy of Sciences of the United States of America215 citations Open access
Semantic Scholar
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
J. Amiel, T. Attié, Dominique M. Jan, A. Pelet +9 more
1996Human Molecular Genetics214 citations
Semantic Scholar
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
S. Lyonnet, A. Bolino, A. Pelet, L. Abel +12 more
1993Nature Genetics201 citations
Semantic Scholar
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
B. Doray, R. Salomon, J. Amiel, A. Pelet +6 more
1998Human Molecular Genetics187 citations
Semantic Scholar
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
M. Castanet, Soo‐Mi Park, Aaron G. Smith, M. Bost +6 more
2002Human Molecular Genetics173 citations
Semantic Scholar
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
R. Touraine, T. Attié-Bitach, E. Manceau, E. Korsch +13 more
2000American Journal of Human Genetics167 citations Open access
Semantic Scholar
A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
M. Le Merrer, F. Rousseau, L. Legeai-Mallet, J. Landais +7 more
1994Nature Genetics131 citations
Semantic Scholar
Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities
F. Demaugre, J. Bonnefont, G. Mitchell, Nguyen-hoang Nam +4 more
1988Pediatric Research128 citations
Semantic Scholar
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
J. Amiel, R. Salomon, T. Attié, A. Pelet +5 more
1998American Journal of Human Genetics124 citations Open access
Semantic Scholar
Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease
C. Bidaud, R. Salomon, G. Van Camp, A. Pelet +8 more
1997European Journal of Human Genetics117 citations
Semantic Scholar
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
J. Amiel, Y. Espinosa-Parrilla, J. Steffann, P. Gosset +14 more
2001American Journal of Human Genetics116 citations Open access
Semantic Scholar
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
A. Pelet, O. Geneste, P. Edery, A. Pasini +6 more
1998Journal of Clinical Investigation110 citations Open access
Semantic Scholar
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
L. de Pontual, A. Pelet, M. Clément-Ziza, D. Trochet +13 more
2007Human Mutation84 citations Open access
Semantic Scholar
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
H. Gui, D. Schriemer, W. W. Cheng, R. Chauhan +36 more
2017Genome Biology82 citations Open access
Semantic Scholar
The CAG repeat within the androgen receptor gene in male breast cancer patients
M. Bahuau, I. Laurendeau, A. Pelet, B. Assouline +9 more
2000Journal of Medical Genetics81 citations Open access
Semantic Scholar
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation
C. Crétolle, A. Pelet, D. Sanlaville, M. Zérah +7 more
2008Human Mutation79 citations
Semantic Scholar
Expression of the RET proto-oncogene in human embryos.
T. Attié-Bitach, Marc Abitbol, Marion Gérard, A. Delezoide +7 more
1998American journal of medical genetics68 citations
Semantic Scholar
Action of the antiepileptic drug, valproic acid, on fatty acid oxidation in isolated rat hepatocytes.
F. Coudé, G. Grimber, A. Pelet, Y. Benoit
1983Biochemical and Biophysical Research Communications - BBRC67 citations
Semantic Scholar
INTERACTION BETWEEN A CHROMOSOME 10 RET ENHANCER AND CHROMOSOME 21 IN THE DOWN SYNDROME-HIRSCHSPRUNG DISEASE ASSOCIATION
S. Arnold, A. Pelet, J. Amiel, S. Borrego +6 more
2009Human Mutation63 citations Open access
Semantic Scholar
Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus
L. de Pontual, A. Pelet, D. Trochet, Francis Jaubert +7 more
2005Journal of Medical Genetics63 citations Open access
Semantic Scholar
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
P. Edery, A. Pelet, Lois M. Mulligan, Laurent Abel +6 more
1994Journal of Medical Genetics61 citations Open access
Semantic Scholar
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
L. de Pontual, Norann A. Zaghloul, S. Thomas, E. Davis +16 more
2009Proceedings of the National Academy of Sciences of the United States of America57 citations Open access
Semantic Scholar
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
F. Rousseau, Jacky Bonaventure, L. Legeai-Mallet, A. Pelet +4 more
1996Hormone Research52 citations
Semantic Scholar
A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12
D. Bonnet, A. Pelet, L. Legeai-Mallet, D. Sidi +9 more
1994Nature Genetics51 citations Open access
Semantic Scholar
Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases
M. Castanet, L. Leenhardt, J. Léger, Aurore Simon-Carré +4 more
2005Pediatric Research48 citations
Semantic Scholar
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
C. S. Tang, H. Gui, A. Kapoor, Jeong-Hyun Kim +28 more
2016Human Molecular Genetics43 citations Open access
Semantic Scholar
Investigation of germline GFRα-1 mutations in Hirschsprung disease
S. Myers, R. Salomon, A. Goessling, A. Pelet +4 more
1999Journal of Medical Genetics37 citations Open access
Semantic Scholar
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
A. Pelet, L. de Pontual, M. Clément-Ziza, Rémi Salomon +8 more
2005Journal of Medical Genetics33 citations Open access
Semantic Scholar
Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, L. Galmiche, J. Lévy, P. Suwannarat +33 more
2021Journal of Clinical Investigation32 citations Open access
Semantic Scholar
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
J. Kaplan, A. Pelet, H. Hentati, Marc Jeanpierre +4 more
1991Journal of Medical Genetics32 citations Open access
Semantic Scholar
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Thuy-Linh Le, Y. Sribudiani, Xiao Dong, C. Huber +28 more
2020American Journal of Human Genetics31 citations Open access
Semantic Scholar
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Jean-Benoît Courcet, L. Faivre, C. Michot, A. Burguet +36 more
2013Jornal de Pediatria31 citations
Semantic Scholar
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Jean-Claude Kaplan, A. Pelet, C. Martin, O. Delrieu +6 more
1992Journal of Medical Genetics31 citations Open access
Semantic Scholar
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
A. Jannot, A. Pelet, A. Henrion-Caude, A. Chaoui +12 more
2013PLoS ONE30 citations Open access
Semantic Scholar
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
A. Pelet, V. Škopová, U. Steuerwald, V. Barešová +13 more
2019Human Molecular Genetics29 citations
Semantic Scholar
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.
M. Bahuau, A. Pelet, D. Vidaud, T. Lamireau +5 more
2001Journal of Medical Genetics26 citations
Semantic Scholar
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.
S. Lyonnet, A. Pelet, Ghislaine Royer, O. Delrieu +9 more
1992Genomics25 citations
Semantic Scholar

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