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N. Chassaing · SciRah

Researcher profile · Semantic Scholar

N. Chassaing

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N. Chassaing — researcher profile on SciRah

h-index: 42
Works: 146
Citations: 5,938

Most-cited papers

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Y. Nitschke, G. Baujat, Ulrike Botschen, Tanja Wittkampf +27 more
2012American Journal of Human Genetics332 citations Open access
Semantic Scholar
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
J. Rivière, B. V. van Bon, A. Hoischen, Stanislav S. Kholmanskikh +29 more
2012Nature Genetics294 citations Open access
Semantic Scholar
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
A. Verloes, N. Di Donato, J. Masliah-Planchon, M. Jongmans +48 more
2014European Journal of Human Genetics150 citations Open access
Semantic Scholar
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
O. Patat, A. Pagin, A. Siegfried, V. Mitchell +11 more
2016American Journal of Human Genetics129 citations Open access
Semantic Scholar
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
S. Thomas, K. J. Wright, S. L. Le Corre, A. Micalizzi +24 more
2014Human Mutation124 citations Open access
Semantic Scholar
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
S. Faguer, N. Chassaing, F. Bandin, Cathie Prouheze +7 more
2014Kidney International121 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
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
J. Karolak, M. Vincent, G. Deutsch, T. Gambin +68 more
2019American Journal of Human Genetics111 citations Open access
Semantic Scholar
Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
P. Sen, Ya-Ping Yang, Colby Navarro, Iris Silva +78 more
2013Human Mutation105 citations Open access
Semantic Scholar
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
L. Fares-Taie, S. Gerber, N. Chassaing, J. Clayton-Smith +17 more
2013American Journal of Human Genetics104 citations Open access
Semantic Scholar
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
M. Srour, D. Chitayat, V. Caron, N. Chassaing +12 more
2013American Journal of Human Genetics101 citations Open access
Semantic Scholar
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A. Knaus, J. Pantel, M. Pendziwiat, Nurulhuda Hajjir +32 more
2017Genome Medicine81 citations Open access
Semantic Scholar
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
C. Dubourg, W. Carré, Houda Hamdi-Rozé, C. Mouden +22 more
2016Human Mutation68 citations Open access
Semantic Scholar
OTX2 mutations contribute to the otocephaly-dysgnathia complex
N. Chassaing, Susanna Sorrentino, E. Davis, D. Martin-Coignard +20 more
2012Journal of Medical Genetics63 citations
Semantic Scholar
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
S. El Chehadeh, W. Kerstjens-Frederikse, J. Thevenon, P. Kuentz +26 more
2016European Journal of Human Genetics59 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
Lessons learned from 40 novel PIGA subjects and a review of the literature.
A. Bayat, A. Knaus, M. Pendziwiat, A. Afenjar +50 more
2020Epilepsia54 citations Open access
Semantic Scholar
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
N. Ragge, B. Isidor, P. Bitoun, S. Odent +25 more
2018Human Genetics53 citations Open access
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
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
A. Bruel, S. Nambot, Virginie Quéré, A. Vitobello +55 more
2019European Journal of Human Genetics51 citations Open access
Semantic Scholar
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
F. Ceroni, Domingo Aguilera-Garcia, N. Chassaing, D. Bax +27 more
2018Human Genetics51 citations Open access
Semantic Scholar
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
R. Holt, R. Young, B. Crespo, F. Ceroni +30 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
N. Chassaing, E. Davis, Kelly L. McKnight, Adrienne R Niederriter +16 more
2016Genome Research46 citations Open access
Semantic Scholar
Implication of non-coding PAX6 mutations in aniridia
J. Plaisancié, M. Tarilonte, P. Ramos, C. Jeanton-Scaramouche +15 more
2018Human Genetics44 citations
Semantic Scholar
Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
M. Srour, V. Caron, Toni S. Pearson, Sarah B. Nielsen +19 more
2016Human Mutation44 citations Open access
Semantic Scholar
Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells.
Audrey Casemayou, Audren Fournel, A. Bagattin, J. Schanstra +11 more
2017Journal of the American Society of Nephrology40 citations Open access
Semantic Scholar
Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia
N. Chassaing, N. Ragge, A. Kariminejad, A. Buffet +3 more
2013Clinical Genetics40 citations
Semantic Scholar
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
N. Chassaing, N. Ragge, J. Plaisancié, O. Patat +6 more
2016American Journal of Medical Genetics. Part A37 citations Open access
Semantic Scholar
FOXE3 mutations: genotype‐phenotype correlations
J. Plaisancié, N. Ragge, H. Dollfus, J. Kaplan +6 more
2018Clinical Genetics32 citations Open access
Semantic Scholar
Genetic Advances in Microphthalmia
J. Plaisancié, P. Calvas, N. Chassaing
2016Journal of Pediatric Genetics32 citations Open access
Semantic Scholar
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
Hui Liu, A. Giguet-Valard, T. Simonet, E. Szenker-Ravi +45 more
2020Human Mutation30 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
Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study
C. Tardieu, S. Jung, K. Niederreither, M. Prasad +11 more
2017Clinical Genetics28 citations
Semantic Scholar
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
S. Moutton, P. Fergelot, Sophie Naudion, M. Cordier +30 more
2016Journal of Human Genetics27 citations
Semantic Scholar
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Bertrand Chesneau, M. Aubert-Mucca, F. Fremont, J. Pechméja +41 more
2022Clinical Genetics24 citations Open access
Semantic Scholar
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Michael E. Coulter, D. Musaev, Ellen M. DeGennaro, Xiao-Chang Zhang +20 more
2020Genetics in Medicine23 citations Open access
Semantic Scholar
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
A. Scott, David W. Mohr, L. Kasch, J. Barton +11 more
2014JAMA ophthalmology22 citations
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
Identification of PITX3 mutations in individuals with various ocular developmental defects
Celia Zazo Seco, J. Plaisancié, Tatiana Lupasco, C. Michot +8 more
2018Ophthalmic Genetics19 citations Open access
Semantic Scholar
Incomplete penetrance of biallelic ALDH1A3 mutations.
J. Plaisancié, D. Bremond-Gignac, B. Demeer, V. Gaston +6 more
2016European Journal of Medical Genetics19 citations
Semantic Scholar
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
A. Garde, L. Guibaud, A. Goldenberg, F. Petit +37 more
2021Clinical Genetics18 citations Open access
Semantic Scholar
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Bertrand Chesneau, T. Edouard, Y. Dulac, H. Colineaux +10 more
2020Molecular Genetics & Genomic Medicine18 citations Open access
Semantic Scholar
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
R. Mieusset, I. Fauquet, D. Chauveau, L. Monteil +9 more
2017JN. Journal of Nephrology (Milano. 1992)18 citations
Semantic Scholar
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
L. Fares-Taie, S. Gerber, A. Tawara, A. Ramirez-Miranda +25 more
2015American Journal of Human Genetics18 citations Open access
Semantic Scholar
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
M. Aubert-Mucca, J. Pernin-Grandjean, Sébastien Marchasson, V. Gaston +12 more
2020European Journal of Human Genetics17 citations Open access
Semantic Scholar
Expanding the KIF4A ‐associated phenotype
Silvia Kalantari, C. Carlston, N. Alsaleh, G. Abdel-Salam +21 more
2021American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Searching for secondary findings: considering actionability and preserving the right not to know
B. Isidor, S. Julia, P. Saugier-Veber, P.-L. Weil-Dubuc +22 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L. Faivre, J. Crépin, M. Réda, S. Nambot +59 more
2023Clinical Genetics13 citations Open access
Semantic Scholar
Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey
M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet +63 more
2016Clinical Genetics13 citations Open access
Semantic Scholar
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes
Linda M. Reis, N. Chassaing, T. Bardakjian, Samuel Thompson +2 more
2022European Journal of Human Genetics12 citations Open access
Semantic Scholar

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