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S. Sigaudy · SciRah

Researcher profile · Semantic Scholar

S. Sigaudy

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S. Sigaudy — researcher profile on SciRah

h-index: 36
Works: 129
Citations: 4,612

Most-cited papers

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C. Stoetzel, V. Laurier, E. Davis, J. Muller +31 more
2006Nature Genetics312 citations Open access
Semantic Scholar
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
C. Nava, N. Hanna, C. Michot, S. Pereira +17 more
2007Journal of Medical Genetics258 citations Open access
Semantic Scholar
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
J. Muller, C. Stoetzel, M. Vincent, C. Leitch +26 more
2010Human Genetics137 citations Open access
Semantic Scholar
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
O. Imhoff, V. Marion, C. Stoetzel, M. Durand +7 more
2011American Society of Nephrology. Clinical Journal125 citations Open access
Semantic Scholar
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye +23 more
2014Clinical Genetics121 citations Open access
Semantic Scholar
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
C. Bonnet, M. Grati, S. Marlin, J. Levilliers +37 more
2011Orphanet Journal of Rare Diseases119 citations Open access
Semantic Scholar
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
C. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali +47 more
2017Nature Genetics116 citations Open access
Semantic Scholar
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
A. Laquérriere, J. Maluenda, Adrien Camus, Laura Fontenas +56 more
2014Human Molecular Genetics113 citations
Semantic Scholar
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
E. Cottereau, I. Mortemousque, M. Moizard, L. Bürglen +34 more
2013American Journal of Medical Genetics. Part C, Seminars in Medical Genetics93 citations
Semantic Scholar
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
G. Baujat, C. Huber, J. El Hokayem, R. Caumes +17 more
2013Journal of Medical Genetics92 citations Open access
Semantic Scholar
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
V. Grampa, M. Delous, M. Zaidan, Gweltas Odye +23 more
2016PLoS Genetics86 citations Open access
Semantic Scholar
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
C. Huber, Sulin Wu, Ashley Kim, S. Sigaudy +9 more
2013American Journal of Human Genetics81 citations Open access
Semantic Scholar
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
M. Legendre, V. Abadie, T. Attié-Bitach, N. Philip +43 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics75 citations Open access
Semantic Scholar
Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
P. Cau, C. Navarro, K. Harhouri, P. Roll +5 more
2014Seminars in Cell and Developmental Biology72 citations Open access
Semantic Scholar
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
F. Brioude, I. Netchine, F. Praz, Marilyne Le Jule +27 more
2015Human Mutation71 citations Open access
Semantic Scholar
Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard, S. Drunat, Y. Vial, Sarah Duerinckx +44 more
2018Human Mutation68 citations Open access
Semantic Scholar
Schimke immunoosseous dysplasia: suggestions of genetic diversity
J. Marietta Clewing, H. Fryssira, David Goodman, S. Smithson +57 more
2007Human Mutation65 citations Open access
Semantic Scholar
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Estève, Ludmila Francescatto, P. L. Tan, A. Bourchany +33 more
2018American Journal of Human Genetics61 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
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
J. Plaisancié, I. Bailleul‐Forestier, V. Gaston, F. Vaysse +18 more
2013American Journal of Medical Genetics. Part A58 citations
Semantic Scholar
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.
F. Bretelle, L. Beyer, M. Pellissier, C. Missirian +4 more
2010European Journal of Medical Genetics53 citations
Semantic Scholar
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort
C. Tlemsani, A. Luscan, N. Leulliot, E. Bieth +20 more
2016Journal of Medical Genetics52 citations
Semantic Scholar
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
M. Barat-Houari, B. Dumont, A. Fabre, Frédéric TM Them +51 more
2015European Journal of Human Genetics52 citations Open access
Semantic Scholar
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
A. Laquérriere, Dana Jaber, E. Abiusi, J. Maluenda +87 more
2021Journal of Medical Genetics51 citations Open access
Semantic Scholar
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
E. Schaefer, M. Durand, C. Stoetzel, B. Doray +17 more
2011European Journal of Medical Genetics49 citations
Semantic Scholar
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
E. Morava, V. Tiemes, C. Thiel, N. Seta +27 more
2016Journal of Inherited Metabolic Disease44 citations Open access
Semantic Scholar
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Clea Bárcena, V. Quesada, A. De Sandre-Giovannoli, D. Puente +6 more
2014BMC Medical Genetics41 citations Open access
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Severe Phenotype in Patients with Large Deletions of NF1
Laurence Pacot, D. Vidaud, A. Sabbagh, I. Laurendeau +46 more
2021Cancers34 citations Open access
Semantic Scholar
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
T. Busa, M. Milh, N. Degardin, Nadine Girard +6 more
2015European journal of paediatric neurology34 citations
Semantic Scholar
Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
C. Mignon‐Ravix, Pierre Cacciagli, Nancy Choucair, C. Popovici +10 more
2014American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Truncated prelamin A expression in HGPS-like patients: a transcriptional study
F. Barthélémy, C. Navarro, Racha Fayek, Nathalie da Silva +14 more
2015European Journal of Human Genetics33 citations Open access
Semantic Scholar
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, F. Lecoquierre, G. Nicolas, A. Richard +94 more
2023European Journal of Human Genetics29 citations Open access
Semantic Scholar
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
D. Bessis, J. Miquel, E. Bourrat, C. Chiaverini +29 more
2019British Journal of Dermatology29 citations
Semantic Scholar
Whole body perinatal postmortem CT angiography.
L. Sarda-Quarello, C. Bartoli, Pierre-Eloi Laurent, J. Torrents +4 more
2016Diagnostic and Interventional Imaging29 citations Open access
Semantic Scholar
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome
T. Busa, M. Legendre, M. Bauge, Edwin Quarello +5 more
2016Prenatal Diagnosis28 citations
Semantic Scholar
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
Marie Cognet, A. Nougayrede, V. Malan, P. Callier +16 more
2011European Journal of Human Genetics28 citations Open access
Semantic Scholar
Antenatal prognostic factor of fetal echogenic bowel.
C. Ronin, P. Macé, F. Stenard, A. Loundou +12 more
2017European Journal of Obstetrics, Gynecology, and Reproductive Biology27 citations
Semantic Scholar
BBS10 mutations are common in ‘Meckel’-type cystic kidneys
A. Putoux, S. Mougou-Zerelli, S. Thomas, Nadia Elkhartoufi +14 more
2010Journal of Medical Genetics27 citations
Semantic Scholar
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies
L. Mouthon, T. Busa, F. Bretelle, H. Karmous‐Benailly +3 more
2019American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Fetal skeletal computed tomography: when? How? Why?
G. Gorincour, K. Chaumoître, B. Bourlière-Najean, F. Bretelle +6 more
2014Diagnostic and Interventional Imaging26 citations Open access
Semantic Scholar
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
F. Tran Mau-Them, J. Delanne, A. Denommé-Pichon, H. Safraou +63 more
2023Frontiers in Genetics25 citations Open access
Semantic Scholar
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, A. Guerrot, Michelle Morrow, C. Schramm +66 more
2021Human Genetics25 citations Open access
Semantic Scholar
Behavioral and temperamental features of children with Costello syndrome
C. Galéra, M. Delrue, C. Goizet, Kattalin Etchegoyhen +6 more
2006American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
C. Billon, A. Molin, C. Poirsier, A. Clémenson +29 more
2020Clinical Genetics21 citations
Semantic Scholar
Schimke immunoosseous dysplasia: defining skeletal features
K. Hunter, T. Lücke, J. Spranger, S. Smithson +26 more
2009European Journal of Pediatrics21 citations Open access
Semantic Scholar
Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France
Cornélie Suard, A. Flori, F. Paoli, A. Loundou +8 more
2020PLoS ONE20 citations Open access
Semantic Scholar
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
D. Bessis, F. Morice-Picard, E. Bourrat, C. Abadie +27 more
2018British Journal of Dermatology20 citations Open access
Semantic Scholar
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
A. Laquérriere, Camille Maillard, M. Cavallin, F. Chapon +10 more
2017Journal of Neuropathology and Experimental Neurology20 citations
Semantic Scholar
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
A. Denommé-Pichon, A. Vitobello, R. Olaso, A. Ziegler +44 more
2021European Journal of Human Genetics19 citations Open access
Semantic Scholar

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