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C. Rieubland · SciRah

Researcher profile · Semantic Scholar

C. Rieubland

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C. Rieubland — researcher profile on SciRah

h-index: 18
Works: 38
Citations: 1,783

Most-cited papers

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.
A. Gimenez-Roqueplo, J. Favier, P. Rustin, C. Rieubland +6 more
2003Cancer Research562 citations
Semantic Scholar
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.
A. Gimenez-Roqueplo, J. Favier, P. Rustin, C. Rieubland +4 more
2002Journal of Clinical Endocrinology and Metabolism220 citations
Semantic Scholar
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
S. Jacquemont, A. Reymond, Flore Zufferey, Louise Harewood +177 more
2011Nature180 citations Open access
Semantic Scholar
Phenotypes and genotypes in individuals with SMC1A variants
S. Huisman, P. Mulder, E. Redeker, I. Bader +44 more
2017American Journal of Medical Genetics. Part A95 citations Open access
Semantic Scholar
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
D. Bruno, D. Ganesamoorthy, J. Schoumans, A. Bankier +23 more
2008Journal of Medical Genetics92 citations
Semantic Scholar
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M. Maas, A. Shaw, H. Bikker, Hermann-Josef Lüdecke +43 more
2015European Journal of Medical Genetics86 citations Open access
Semantic Scholar
Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach.
M. Wilhelm, S. Bolliger, Christine Bartsch, S. Fokstuen +13 more
2015Swiss medical weekly56 citations Open access
Semantic Scholar
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
V. Faundes, S. Goh, Rhoda Akilapa, H. Bezuidenhout +40 more
2021Genetics in Medicine50 citations Open access
Semantic Scholar
SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups
A. Baruteau, F. Kyndt, E. Behr, A. Vink +47 more
2018European Heart Journal49 citations Open access
Semantic Scholar
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
S. Fokstuen, A. Muñoz, P. Melacini, S. Iliceto +11 more
2011Journal of Medical Genetics44 citations Open access
Semantic Scholar
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
J. Hurst, D. Jenkins, P. Vasudevan, M. Kirchhoff +8 more
2011European Journal of Human Genetics39 citations Open access
Semantic Scholar
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Lianne C. Krab, Í. Marcos-Alcalde, Melissa Assaf, M. Balasubramanian +22 more
2020Human Genetics35 citations Open access
Semantic Scholar
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
S. Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans +21 more
2022Brain : a journal of neurology34 citations Open access
Semantic Scholar
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
C. Courage, G. Houge, S. Gallati, Jack Schjelderup +1 more
2014European Journal of Medical Genetics31 citations
Semantic Scholar
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy
B. Goeggel Simonetti, C. Rieubland, C. Courage, S. Strozzi +3 more
2012Epilepsia24 citations Open access
Semantic Scholar
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Carolina Gracia-Diaz, Yijing Zhou, Qian-Wen Yang, R. Maroofian +116 more
2023Nature Communications22 citations Open access
Semantic Scholar
Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature
A. Casini, Christiane Sokollik, S. Lukowski, Eberhard Lurz +3 more
2015Haemophilia21 citations Open access
Semantic Scholar
Molecular defects of the C7 gene in two patients with complement C7 deficiency
S. Barroso, C. Rieubland, Antonia JoséÁlvarez, M. López-Trascasa +3 more
2006Immunology19 citations Open access
Semantic Scholar
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
C. Rieubland, S. Jacquemont, L. Mittaz, M. Osterheld +4 more
2010European Journal of Medical Genetics17 citations
Semantic Scholar
Uncombable hair syndrome: a clinical report.
C. Rieubland, P. D. de Viragh, M. Addor
2007European Journal of Medical Genetics17 citations
Semantic Scholar
Two cases of trisomy 16 mosaicism ascertained postnatally
C. Rieubland, D. Francis, Leonie Houben, Sylvea Corrie +2 more
2009American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.
A. Medeiros Domingo, S. Bolliger, C. Gräni, C. Rieubland +13 more
2018Swiss medical weekly14 citations
Semantic Scholar
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia
A. Desmaison, A. Vigouroux, C. Rieubland, Christine Pérès +2 more
2010Molecular Vision14 citations
Semantic Scholar
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, H. Tajsharghi, E. G. Karimiani +97 more
2023Brain : a journal of neurology13 citations Open access
Semantic Scholar
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death
Jacqueline Neubauer, Zi-Zun Wang, J. Rougier, Hugues Abriel +4 more
2019Zeitschrift für Rechtsmedizin9 citations Open access
Semantic Scholar
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
Y. Kesim, F. Ceroni, Alejandra Damián, F. Blanco-Kelly +11 more
2023European Journal of Human Genetics8 citations Open access
Semantic Scholar
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results
Chow-Chua Han, H. Servatius, B. Asatryan, A. Schaller +11 more
2018Clinical Research in Cardiology7 citations Open access
Semantic Scholar
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
V. Strehlow, C. Rieubland, S. Gallati, Sukhan Kim +6 more
2022Epilepsia6 citations Open access
Semantic Scholar
Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome
A. Ferrario, Nijas Aliu, C. Rieubland, S. Vuilleumier +2 more
2023Genes2 citations Open access
Semantic Scholar
NF1 : l'analyse moléculaire dans la pratique clinique
C. Rieubland, D. Vidaud, S. Jacquemont
20071 citations
Semantic Scholar
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
Y. Kesim, F. Ceroni, Alejandra Damián, F. Blanco-Kelly +11 more
2023European Journal of Human Genetics0 citations Open access
Semantic Scholar
Arthrogryposis multiplex congenita: fetal sonographic, clinical and genetic findings in seven cases from a tertiary care center in Switzerland
A. Rădan, B. Mosimann, F. Trottmann, C. Rieubland +2 more
2020Geburtshilfe und Frauenheilkunde0 citations
Semantic Scholar
96-77: Phenotypic Spectrum of HCN4 Mutations: Further Evidence of involvement in Left Ventricular Non-Compaction, Sick Sinus Syndrome, and Mood- and Anxiety Disorder
H. Servatius, S. Pless, André Schaller, T. Lynagh +11 more
20160 citations
Semantic Scholar
Chronic pancreatitis in childhood – would you think about genetics?
T. Trachsel, J. Ambuehl, C. Rieubland, S. Schibli +3 more
20160 citations
Semantic Scholar
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?
C. Rieubland, Anthony D. Holmes, M. Caramins, T. Roscioli +1 more
2011American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
[NF1: Molecular testing in clinical practice].
C. Rieubland, D. Vidaud, S. Jacquemont
2007Annales de dermatologie et de vénéréologie0 citations
Semantic Scholar
When to refer for neurogenetic assessment
C. Rieubland, S. Jacquemont, M. Addor, V. Cina +2 more
20060 citations Open access
Semantic Scholar
Forthcoming papers
P. Beverley, J. Piercy, S. Petrova, E. Tchilian +8 more
20060 citations Open access
Semantic Scholar

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