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A. Moncla · SciRah

Researcher profile · Semantic Scholar

A. Moncla

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A. Moncla — researcher profile on SciRah

h-index: 40
Works: 106
Citations: 5,456

Most-cited papers

Angelman syndrome 2005: Updated consensus for diagnostic criteria
Charles A. Williams, A. L. Beaudet, J. Clayton-Smith, J. H. Knoll +7 more
2006American Journal of Medical Genetics. Part A606 citations
Semantic Scholar
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
V. Belin, V. Cusin, G. Viot, D. Girlich +6 more
1998Nature Genetics352 citations
Semantic Scholar
Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice
J. Viemari, J. Roux, A. Tryba, Véronique Saywell +11 more
2005Journal of Neuroscience277 citations Open access
Semantic Scholar
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
P. Jay, Claire Rougeulle, A. Massacrier, A. Moncla +9 more
1997Nature Genetics253 citations
Semantic Scholar
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
Judith J. Luciani, D. Depetris, Yves Usson, Catherine Metzler-Guillemain +8 more
2006Journal of Cell Science144 citations
Semantic Scholar
Mutation analysis of UBE3A in Angelman syndrome patients.
P. Malzac, Hayley A. Webber, A. Moncla, J. M. Graham +6 more
1998American Journal of Human Genetics144 citations Open access
Semantic Scholar
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome
J. Roux, Emmanuelle Dura, A. Moncla, J. Mancini +1 more
2007European Journal of Neuroscience142 citations
Semantic Scholar
Cortical myoclonus in angelman syndrome
R. Guerrini, P. Bonanni, T. Delorey, J. Serratosa +10 more
1996Annals of Neurology139 citations
Semantic Scholar
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
Carlos Cardoso, A. Boys, Ellena Parrini, C. Mignon‐Ravix +14 more
2009Neurology129 citations
Semantic Scholar
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
YL Jiang, M. Rigolet, D. Bourc'his, F. Nigon +8 more
2005Human Mutation128 citations Open access
Semantic Scholar
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M. Mencarelli, A. Spanhol-Rosseto, R. Artuso, D. Rondinella +16 more
2009Journal of Medical Genetics127 citations
Semantic Scholar
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Jean-Benoît Courcet, L. Faivre, P. Malzac, A. Masurel‐Paulet +14 more
2012Journal of Medical Genetics120 citations
Semantic Scholar
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.
S. Knight, M. Voelckel, M. Hirst, A. Flannery +2 more
1994American Journal of Human Genetics119 citations
Semantic Scholar
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
E. Colin, E. Huynh Cong, G. Mollet, A. Guichet +20 more
2014American Journal of Human Genetics118 citations Open access
Semantic Scholar
Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
A. Moncla, P. Malzac, M. Voelckel, P. Auquier +6 more
1999European Journal of Human Genetics116 citations
Semantic Scholar
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.
N. Philip, P. Meinecke, A. David, J. Dean +12 more
1992Clinical Dysmorphology107 citations
Semantic Scholar
Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children
M. Tauber, C. Barbeau, B. Jouret, C. Pienkowski +3 more
2000Hormone Research in Paediatrics90 citations
Semantic Scholar
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
A. Moncla, C. Missirian, Pierre Cacciagli, E. Balzamo +7 more
2007Human Mutation87 citations Open access
Semantic Scholar
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
C. Philippe, Laurent Villard, N. de Roux, M. Raynaud +8 more
2006European Journal of Medical Genetics86 citations
Semantic Scholar
Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.
C. Blanco-Betancourt, A. Moncla, M. Milili, Yun-Liang Jiang +4 more
2004Blood81 citations
Semantic Scholar
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Essam Al Ageeli, S. Drunat, C. Delanöe, L. Perrin +11 more
2014European Journal of Medical Genetics79 citations
Semantic Scholar
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
Pierre Cacciagli, M. Haddad, C. Mignon‐Ravix, Bilal El-Waly +4 more
2010European Journal of Human Genetics75 citations Open access
Semantic Scholar
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
A. Moncla, P. Malzac, M. Livet, M. Voelckel +4 more
1999Journal of Medical Genetics75 citations Open access
Semantic Scholar
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
Hélène Sebban-Benin, Alessandra Pescatore, F. Fusco, Valérie Pascuale +5 more
2007Human Molecular Genetics71 citations Open access
Semantic Scholar
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
G. Karadima, M. Bugge, P. Nicolaidis, D. Vassilopoulos +25 more
1998European Journal of Human Genetics71 citations
Semantic Scholar
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Laïla Allach El Khattabi, S. Heide, J. Caberg, J. Andrieux +40 more
2018Journal of Medical Genetics70 citations
Semantic Scholar
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
M. Jouet, A. Moncla, J. Paterson, C. McKeown +5 more
1995American Journal of Human Genetics69 citations
Semantic Scholar
Clinical Heterogeneity in 16 Patients with inv dup 15 Chromosome: Cytogenetic and Molecular Studies, Search for an Imprinting Effect
Charlotte Mignon, P. Malzac, A. Moncla, D. Depetris +3 more
1996European Journal of Human Genetics68 citations
Semantic Scholar
TCF4 Deletions in Pitt‐Hopkins Syndrome
I. Giurgea, C. Missirian, Pierre Cacciagli, S. Whalen +16 more
2008Human Mutation65 citations Open access
Semantic Scholar
Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships
N. Bahi-buisson, N. Villeneuve, E. Caietta, A. Jacquette +9 more
2012American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
M. Miguet, L. Faivre, J. Amiel, M. Nizon +83 more
2018Journal of Medical Genetics58 citations Open access
Semantic Scholar
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
J. Besseau-Ayasse, C. Violle-Poirsier, A. Bazin, N. Gruchy +38 more
2014Prenatal Diagnosis57 citations
Semantic Scholar
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
C. Dubourg, D. Sanlaville, M. Doco-Fenzy, C. Le Caignec +20 more
2011European Journal of Medical Genetics56 citations Open access
Semantic Scholar
The incidence of Rett syndrome in France.
T. Bienvenu, C. Philippe, N. de Roux, M. Raynaud +9 more
2006Pediatric Neurology52 citations
Semantic Scholar
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
C. Bénéteau, H. Cavé, A. Moncla, N. Dorison +3 more
2009European Journal of Human Genetics50 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
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations
C. Mignon‐Ravix, D. Depetris, Judith J. Luciani, C. Cuoco +8 more
2007European Journal of Human Genetics47 citations
Semantic Scholar
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
C. Mignon‐Ravix, Pierre Cacciagli, Bilal El-Waly, A. Moncla +5 more
2009Journal of Medical Genetics45 citations
Semantic Scholar
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
S. Sigaudy, A. Toutain, A. Moncla, C. Fredouille +3 more
1998American journal of medical genetics42 citations
Semantic Scholar
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
S. El Chehadeh-Djebbar, E. Blair, M. Holder-Espinasse, A. Moncla +12 more
2012European Journal of Human Genetics39 citations Open access
Semantic Scholar
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
S. El Chehadeh, B. Aral, N. Gigot, C. Thauvin-Robinet +27 more
2010Journal of Medical Genetics39 citations Open access
Semantic Scholar
Extended spectrum of MBD5 mutations in neurodevelopmental disorders
C. Bonnet, A. A. Khan, E. Bresso, C. Vigouroux +10 more
2013European Journal of Human Genetics38 citations Open access
Semantic Scholar
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
L. El Khattabi, F. Guimiot, E. Pipiras, J. Andrieux +33 more
2014European Journal of Human Genetics37 citations Open access
Semantic Scholar
Subcellular distribution of HP1 proteins is altered in ICF syndrome
Judith J. Luciani, D. Depetris, C. Missirian, C. Mignon‐Ravix +4 more
2005European Journal of Human Genetics37 citations
Semantic Scholar
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome
N. Philip, L. Andrac, A. Moncla, S. Sigaudy +3 more
1995Clinical Dysmorphology36 citations
Semantic Scholar
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
A. Quénard, S. Yilmaz, Hervé Fontaine, T. Bienvenu +7 more
2006European Journal of Medical Genetics35 citations
Semantic Scholar
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling
A. Moncla, Arlette Kpebe, C. Missirian, J. Mancini +1 more
2002European Journal of Human Genetics35 citations
Semantic Scholar
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma
S. Sigaudy, G. Vittu, A. David, J. Vigneron +4 more
2000European Journal of Pediatrics34 citations
Semantic Scholar
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.
F. Mochel, C. Missirian, R. Reynaud, A. Moncla
2008European Journal of Medical Genetics33 citations
Semantic Scholar
Truncation of NHEJ1 in a patient with polymicrogyria
Vincent Cantagrel, A. Lossi, S. Lisgo, C. Missirian +9 more
2007Human Mutation33 citations Open access
Semantic Scholar

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C. Missirian×14
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C. Missirian — researcher profile on SciRah
N. Philip×13
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L. Villard×11
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P. Malzac×8
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C. Mignon‐Ravix×6

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L. Faivre — researcher profile on SciRah

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