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J. Puechberty · SciRah

Researcher profile · Semantic Scholar

J. Puechberty

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J. Puechberty — researcher profile on SciRah

h-index: 25
Works: 77
Citations: 2,096

Most-cited papers

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
S. Grandemange, E. Sanchez, P. Louis-Plence, F. Tran Mau-Them +18 more
2016Annals of the Rheumatic Diseases216 citations
Semantic Scholar
Complex chromosomal rearrangements: origin and meiotic behavior.
F. Pellestor, T. Anahory, G. Lefort, J. Puechberty +3 more
2011Human Reproduction Update181 citations
Semantic Scholar
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
M. Vincent, D. Geneviève, A. Ostertag, S. Marlin +52 more
2015Genetics in Medicine156 citations Open access
Semantic Scholar
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
C. Vanlerberghe, F. Petit, V. Malan, C. Vincent-Delorme +32 more
2015European Journal of Medical Genetics98 citations
Semantic Scholar
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
N. M. P. Nguyen, Y. Khawajkie, Nawel Mechtouf, M. Rezaei +35 more
2018Modern Pathology73 citations Open access
Semantic Scholar
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
A. Tabet, T. Rolland, M. Ducloy, J. Lévy +58 more
2017npj Genomic Medicine73 citations Open access
Semantic Scholar
Chromoanagenesis, the mechanisms of a genomic chaos.
F. Pellestor, J. Gaillard, A. Schneider, J. Puechberty +1 more
2021Seminars in Cell and Developmental Biology66 citations Open access
Semantic Scholar
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
A. Jønch, E. Douard, C. Moreau, A. van Dijck +24 more
2019Journal of Medical Genetics63 citations Open access
Semantic Scholar
Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.
F. Pellestor, V. Gatinois, J. Puechberty, D. Geneviève +1 more
2014Fertility and Sterility63 citations
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
C. Schluth-Bolard, F. Diguet, N. Chatron, P. Rollat-Farnier +69 more
2019Journal of Medical Genetics60 citations Open access
Semantic Scholar
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
I. Schanze, J. Bunt, Jonathan W. C. Lim, D. Schanze +45 more
2018American Journal of Human Genetics57 citations Open access
Semantic Scholar
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
M. Doco-Fenzy, Camille Leroy, A. Schneider, F. Petit +20 more
2013European Journal of Human Genetics49 citations Open access
Semantic Scholar
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
F. T. Mau-Them, M. Willems, B. Albrecht, E. Sanchez +16 more
2013European Journal of Human Genetics49 citations Open access
Semantic Scholar
Genetic and physical analyses of the centromeric and pericentromeric regions of human chromosome 5: recombination across 5cen.
J. Puechberty, A. Laurent, Sylvie Gimenez, Alain Billault +7 more
1999Genomics45 citations
Semantic Scholar
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Marguerite Hureaux, S. Guterman, B. Hervé, M. Till +21 more
2019Prenatal Diagnosis41 citations
Semantic Scholar
Prader‐Willi syndrome: is there a recognizable fetal phenotype?
N. Bigi, J. Faure, C. Coubes, J. Puechberty +3 more
2008Prenatal Diagnosis38 citations Open access
Semantic Scholar
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player
T. Celse, Caroline Cazin, F. Mietton, G. Martinez +39 more
2020Human Genetics35 citations Open access
Semantic Scholar
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clémence Jacquin, E. Landais, C. Poirsier, A. Afenjar +44 more
2022American Journal of Medical Genetics. Part A33 citations Open access
Semantic Scholar
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability
M. Vincent, C. Collet, A. Verloes, L. Lambert +9 more
2013European Journal of Human Genetics31 citations Open access
Semantic Scholar
Global analysis of DNA methylation and transcription of human repetitive sequences.
B. Horard, Angéline Eymery, G. Fourel, N. Vassetzky +11 more
2009Epigenetics29 citations Open access
Semantic Scholar
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
J. Mortreux, T. Busa, D. Germain, G. Nadeau +11 more
2017European Journal of Human Genetics28 citations Open access
Semantic Scholar
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
N. Marle, D. Martinet, A. Aboura, G. Joly-Hélas +38 more
2014Clinical Genetics28 citations
Semantic Scholar
Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21
N. Pironon, J. Puechberty, G. Roizes
2010BMC Genomics27 citations Open access
Semantic Scholar
Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.
K. Moradkhani, J. Puechberty, Samarth Bhatt, J. Lespinasse +5 more
2006Human Reproduction27 citations Open access
Semantic Scholar
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
L. Pinson, Linda Mannini, M. Willems, F. Cucco +10 more
2014American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Site-specific retrotransposition of L1 elements within human alphoid satellite sequences.
A. Laurent, J. Puechberty, Catherine Prades, Sylvie Gimenez +1 more
1997Genomics25 citations
Semantic Scholar
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions
S. Bhatt, K. Moradkhani, K. Mrasek, J. Puechberty +9 more
2009European Journal of Human Genetics24 citations Open access
Semantic Scholar
Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.
F. Pellestor, J. Puechberty, A. Weise, G. Lefort +3 more
2011Fertility and Sterility22 citations Open access
Semantic Scholar
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
C. Amouroux, M. Vincent, P. Blanchet, J. Puechberty +9 more
2012European Journal of Human Genetics21 citations Open access
Semantic Scholar
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure
J. Puechberty, C. Rittore, L. Philibert, G. Lefort +5 more
2009Clinical Genetics21 citations
Semantic Scholar
Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases.
K. Moradkhani, J. Puechberty, Samarth Bhatt, P. Vago +5 more
2006Human Reproduction21 citations Open access
Semantic Scholar
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
L. Cayrefourcq, M. Vincent, S. Pierredon, C. Moutou +23 more
2020Scientific Reports20 citations Open access
Semantic Scholar
Discordant sex in monozygotic XXY/XX twins: a case report.
G. Tachon, G. Lefort, J. Puechberty, A. Schneider +9 more
2014Human Reproduction19 citations
Semantic Scholar
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
A. Mosca, L. Pinson, J. Andrieux, Henri Copin +19 more
2011Prenatal Diagnosis19 citations
Semantic Scholar
Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm.
S. Bhatt, K. Moradkhani, K. Mrasek, J. Puechberty +6 more
2007Molecular human reproduction19 citations
Semantic Scholar
SINE and LINE within human centromeres
C. Prades, A. Laurent, J. Puechberty, Y. Yurov +1 more
2004Journal of Molecular Evolution18 citations
Semantic Scholar
Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms
K. Moradkhani, J. Puechberty, P. Blanchet, C. Coubes +4 more
2006Prenatal Diagnosis16 citations
Semantic Scholar
Hypothesis: For the Worst and for the Best, L1Hs Retrotransposons Actively Participate in the Evolution of the Human Centromeric Alphoid Sequences
A. Laurent, J. Puechberty, G. Roizes
2004Chromosome Research16 citations
Semantic Scholar
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.
C. Guissart, C. Dubucs, C. Raynal, A. Girardet +14 more
2017Journal of Cystic Fibrosis15 citations Open access
Semantic Scholar
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder
A. Schneider, J. Puechberty, B. Ng, C. Coubes +9 more
2015American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
K. Moradkhani, L. Cuisset, P. Boisseau, Olivier Pichon +37 more
2019Prenatal Diagnosis13 citations Open access
Semantic Scholar
Chromoanagenesis phenomena and their formation mechanisms
F. Pellestor, J. Gaillard, A. Schneider, J. Puechberty +1 more
202112 citations
Semantic Scholar
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
K. Yauy, A. Schneider, B. Ng, J. Gaillard +10 more
2019BMC Medical Genomics12 citations Open access
Semantic Scholar
A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1
C. Vaché, J. Puechberty, V. Faugère, Floriane Darmaisin +8 more
2020Frontiers in Genetics11 citations Open access
Semantic Scholar
Compared genomics of the strand switch region of Leishmania chromosome 1 reveal a novel genus-specific gene and conserved structural features and sequence motifs
J. Puechberty, C. Blaineau, Sabrina Meghamla, L. Crobu +2 more
2007BMC Genomics10 citations Open access
Semantic Scholar
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
Roseline Vibert, C. Mignot, B. Keren, S. Chantot-Bastaraud +30 more
2021Clinical Genetics9 citations
Semantic Scholar
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
C. Guissart, Frédéric Tran Mau Them, V. Debant, V. Viart +14 more
2018Fetal Diagnosis and Therapy9 citations
Semantic Scholar
Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis
S. Bhatt, M. Manvelyan, K. Moradkhani, F. Hunstig +7 more
2013Cytogenetic and Genome Research8 citations
Semantic Scholar
Long reads sequencing strategy to localize variants in TTN repeated domains.
A. Perrin, C. Van Goethem, C. Thèze, J. Puechberty +17 more
2022Journal of Molecular Diagnostics7 citations Open access
Semantic Scholar

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