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University Hospital of Geneva: Geneva, CH

staff (Pediatrics)
Employment
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Joel Fluss

Works (50 of 138)

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CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

Clinical Genetics
2024 | Journal article
Contributors: Al-Kateb, Hussam; Au, P. Y. Billie; Berland, Siren; Cogne, Benjamin; Demurger, Florence; Fluss, Joel; Isidor, Bertrand; Frank, L. Matthew; Varvagiannis, Konstantinos; Koolen, David A. et al.
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Expansion of the neurodevelopmental phenotype of individuals with <i>EEF1A2</i> variants and genotype-phenotype study

European Journal of Human Genetics
2024 | Journal article
Contributors: Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine et al.
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Fatal cervical myelopathy in a child with glutaric aciduria type 1

Journal of Inherited Metabolic Disease
2024 | Journal article
Contributors: Chauvet, Eline; Ribeiro, Diana; Kern, Ilse; Fluss, Joel
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Perinatal arterial ischemic stroke: how informative is the placenta?

Virchows Archiv
2024 | Journal article
Contributors: Hirschel, Jessica; Barcos-Munoz, Francisca; Chalard, Francois; Chiodini, Florence; Epiney, Manuella; Fluss, Joel; Rougemont, Anne-Laure
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Decompressive hemicraniectomy in pediatric malignant arterial ischemic stroke: a case-based review

Child's Nervous System
2023 | Journal article
Contributors: Carlhan-Ledermann, Audrey; Bartoli, Andrea; Gebistorf, Fabienne; Beghetti, Maurice; Sologashvili, Tornike; Polo, Monica Rebollo; Fluss, Joel
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Exome sequencing in prenatal diagnosis: results from 156 cases

European Journal of Human Genetics
2023 | Journal article
Contributors: Ranza, Emmanuelle; Blanc, Xavier; Santoni, Federico; Afshar, Katayoun; Frederic, Guerry; Conrad, Bernard; Eperon, Isabelle; Tissot, Cecile; Deluen, Cecile; Araud, Tanguy et al.
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Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children: a comparative cohort study

MedRxiv
2023 | Journal article
Contributors: Slavova, Nedelina; Muenger, Robin; Sanchez-Albisua, Iciar; Regenyi, Maria; Oesch, Gabriela; Fluss, Joel; Hackenberg, Annette; Lebon, Sebastien; Maier, Oliver; Datta, Alexandre et al.
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Long-term developmental condition following neonatal arterial ischemic stroke: A systematic review

Archives de Pediatrie
2023 | Journal article
Contributors: Giraud, Antoine; Stephens, Carol M.; Fluss, Joel; Kossorotoff, Manoeurolle; Walsh, Brian H.; Chabrier, Stephane
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Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (<i>TTN</i>) gene

Pediatric Transplantation
2023 | Journal article
Contributors: Wacker, Julie; Di Bernardo, Stefano; Lobrinus, Johannes Alexander; Jungbluth, Heinz; Gautel, Mathias; Beghetti, Maurice; Fluss, Joel
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The Swiss cohort of LAMA2-related muscular dystrophy patients

Neuromuscular Disorders
2023 | Journal article
Contributors: Enzmann, C.; Steiner, L.; Baumann, D.; Lotscher, N.; Jacquier, D.; Stettner, G.; Henzi, B.; Ripellino, P.; Fluss, J.; Klein, A.
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<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Journal of Medical Genetics
2022 | Journal article
Contributors: Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C.; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K. et al.
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Epilepsy & Behavior
2022 | Journal article
Contributors: Bar, Claire; Breuillard, Delphine; Kuchenbuch, Mathieu; Jennesson, Melanie; Le Guyader, Gwenael; Isnard, Herve; Rolland, Anne; Doummar, Diane; Fluss, Joel; Afenjar, Alexandra et al.
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Bi-allelic loss of <i>ERGIC1</i> in relatively mild arthrogryposis

European Journal of Human Genetics
2022 | Journal article
Contributors: Marconi, Caterina; Lemmens, Laure; Masclaux, Frederic; Mattioli, Francesca; Fluss, Joel; Extermann, Philippe; Mendez, Purificacion; Leuchter, Russia Ha-Vinh; Stathaki, Elisavet; Laurent, Sacha et al.
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Cerebral palsy in Switzerland - insights from a national clinical registry and cohort study

Schweizerische Medizinische Wochenschrift
2022 | Journal article
Contributors: Hunziker, S.; Dreher, T.; Fluss, J.; Grunt, S.; Juenemann, S.; Kuehni, C. E.; Kuenzle, C.; Meyer-Heim, A.; Newman, C. J.; Ramelli, G. et al.
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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms

Frontiers in Immunology
2022 | Journal article
Contributors: Blanchard-Rohner, Geraldine; Peirolo, Anna; Coulon, Ludivine; Korff, Christian; Horvath, Judit; Burkhard, Pierre R.; Gumy-Pause, Fabienne; Ranza, Emmanuelle; Jandus, Peter; Dibra, Harpreet et al.
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Cohort profile: the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) cohort study

Schweizerische Medizinische Wochenschrift
2022 | Journal article
Contributors: Belle, Fabien N.; Hunziker, Sandra; Fluss, Joel; Grunt, Sebastian; Juenemann, Stephanie; Kuenzle, Christoph; Meyer-Heim, Andreas; Newman, Christopher J.; Ramelli, Gian Paolo; Weber, Peter et al.
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Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the <i>RORB</i> gene

Epilepsia
2022 | Journal article
Contributors: Gokce-Samar, Z.; Vetro, A.; de Bellescize, J.; Sanlaville, D.; Pisano, T.; Korff, C.; Fluss, J.; Marini, C.; Alvarez, B. Mercedes; Chatron, N. et al.
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Exome sequencing in prenatal diagnosis: results from 88 cases

European Journal of Human Genetics
2022 | Journal article
Contributors: Ranza, Emmanuelle; Blanc, Xavier; Santoni, Federico; Guerry, Frederic; Conrad, Bernard; Eperon, Isabelle; Tissot, Cecile; Deluen, Cecile; Araud, Tanguy; Baerlocher, Loic et al.
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Gait stability in ambulant children with cerebral palsy during dual tasks

Plos One
2022 | Journal article
Contributors: Wist, Sophie; Carcreff, Lena J.; Bruijn, Sjoerd M.; Allali, Gilles; Newman, Christopher J.; Fluss, Joel; Armand, Stephane
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Gait stability in ambulant children with cerebral palsy during dual tasks

MedRxiv
2022 | Journal article
Contributors: Wist, S.; Carcreff, L.; Bruijn, S. M.; Allali, G.; Newman, C. J.; Fluss, J.; Armand, S.
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Movement disorders in valine metabolism diseases caused by <i>HIBCH</i> and <i>ECHS1</i> deficiencies

European Journal of Neurology
2022 | Journal article
Contributors: Francois-Heude, Marie-Celine; Lebigot, Elise; Roze, Emmanuel; Warde, Marie Therese Abi; Cances, Claude; Damaj, Lena; Espil, Caroline; Fluss, Joel; de Lonlay, Pascale; Kern, Ilse et al.
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Bi-allelic loss of <i>ERGIC1</i> causes relatively mild arthrogryposis

Clinical Genetics
2021 | Journal article
Contributors: Marconi, Caterina; Lemmens, Laure; Masclaux, Frederic; Mattioli, Francesca; Fluss, Joel; Extermann, Philippe; Mendez, Purificacion; Leuchter, Russia Ha-Vinh; Stathaki, Elissavet; Laurent, Sacha et al.
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Cohort profile: the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) cohort study

MedRxiv
2021 | Journal article
Contributors: Belle, F. N.; Hunziker, S. M.; Fluss, J.; Grunt, S.; Juenemann, S.; Kuenzle, C.; Meyer-Heim, A.; Newman, C. J.; Ramelli, G. Paolo; Weber, P. et al.
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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Genetics in Medicine
2021 | Journal article
Contributors: Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde et al.
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Making sense of missense variants in <i>TTN</i>-related congenital myopathies

Acta Neuropathologica
2021 | Journal article
Contributors: Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan et al.
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Perinatal stroke: Nosography, clinical presentation, mechanism, risk factors and genetics

Bulletin de l'Academie Nationale de Medecine
2021 | Journal article
Contributors: Chabrier, S.; Kossorotoff, M.; Chevin, M.; Fluss, J.
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Recognition, identification, and diagnosis announcement of neonatal arterial ischemic stroke: A combined exploratory quantitative and qualitative study on parents' lived experiences

Archives de Pediatrie
2021 | Journal article
Contributors: Martins, Cindy Leal; Chabrier, Stephane; Fluss, Joel
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Structural brain abnormalities in epilepsy with myoclonic atonic seizures

Epilepsy Research
2021 | Journal article
Contributors: Denervaud, Solange; Korff, Christian; Fluss, Joel; Kalser, Judith; Roulet-Perez, Eliane; Hagmann, Patric; Lebon, Sebastien
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Trigeminal nerve chronic motor denervation caused by cerebellar peduncle pilocytic astrocytoma

Child's Nervous System
2021 | Journal article
Contributors: Papangelopoulou, Danai; Ansari, Marc; Bartoli, Andrea; Fluss, Joel; von Bueren, Andre O.
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Truncating variants in the <i>SHANK1</i> gene are associated with a spectrum of neurodevelopmental disorders

Genetics in Medicine
2021 | Journal article
Contributors: May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Carminho A. Rodrigues, Maria Teresa et al.
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<i>MCF2</i> is linked to a complex perisylvian syndrome and affects cortical lamination

Annals of Clinical and Translational Neurology
2020 | Journal article
Contributors: Molinard-Chenu, Aude; Fluss, Joel; Laurent, Sacha; Laurent, Meryle; Guipponi, Michel; Dayer, Alexandre G.
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Cognitive and academic profiles in children with cerebral palsy: A narrative review

Annals of Physical and Rehabilitation Medicine
2020 | Journal article
Contributors: Fluss, Joel; Lidzba, Karen
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Deciphering the natural history of SCA7 in children

European Journal of Neurology
2020 | Journal article
Contributors: Bah, M. G.; Rodriguez, D.; Cazeneuve, C.; Mochel, F.; Devos, D.; Suppiej, A.; Roubertie, A.; Meunier, I; Gitiaux, C.; Curie, A. et al.
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From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand?

Annals of Physical and Rehabilitation Medicine
2020 | Journal article
Contributors: Chabrier, Stephane; Pouyfaucon, Margaux; Chatelin, Alain; Bleyenheuft, Yannick; Fluss, Joel; Gautheron, Vincent; Newman, Christopher J.; Sebire, Guillaume; Van Bogaert, Patrick; Vuillerot, Carole et al.
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Risk Factors for Postprocedural Arterial Ischemic Stroke in Children With Cardiac Disease

Stroke
2020 | Journal article
Contributors: Henzi, Bettina C.; Brotschi, Barbara; Balmer, Christian; Hennig, Bert; Rimensberger, Peter; Perez, Marie-Helene; Pfammatter, Jean-Pierre; Beghetti, Maurice; Sekarski, Nicole; Datta, Alexandre N. et al.
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Targeted prenatal exome sequencing in a series of fetal structural anomalies detected by ultrasonography: first experience of the University Hospitals of Geneva

European Journal of Human Genetics
2020 | Journal article
Contributors: Quteineh, L.; Pellegrinelli, J.; Billieux, M.; Guipponi, M.; Laurent, S.; Hammar, E.; Murphy, A.; Rodrigues, M. Carminho Amaro; Ait-Mouhoub, T.; Sloan-Bena, F. et al.
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Acute ptosis with controlateral hemiataxia: the rare occurrence of Claude syndrome related to a midbrain stroke in a young child

Schweizerische Medizinische Wochenschrift
2019 | Journal article
Contributors: Tavaglione, F.; Fluss, J.; Laurent, M.
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Craniocervical artery dissection in childhood - Results: from the Swiss Neuropaediatric Stroke Registry and a systematic review of the literature

Schweizerische Medizinische Wochenschrift
2019 | Journal article
Contributors: Heldner, S.; Regenyi, M.; Bigi, S.; Hackenberg, A.; Schmitt-Mechelke, T.; Datta, A.; Fluss, J.; Jung, S.; El-Koussy, M.; Arnold, M. et al.
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Disruptive recessive <i>TTN</i> missense mutations cause a wide range of clinico-pathological features

Neuromuscular Disorders
2019 | Journal article
Contributors: Rees, M.; Fukuzawa, A.; Nikoopour, R.; Kho, A.; Qi, J.; Fernandez-Garcia, M.; Wraige, E.; Cirak, S.; Pfuhl, M.; Fluss, J. et al.
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Health related quality of life and manual ability 5 years after neonatal ischemic stroke

European Journal of Paediatric Neurology
2019 | Journal article
Contributors: Caspar-Teuscher, Miriam; Studer, Martina; Regenyi, Maria; Steinlin, Maja; Grunt, Sebastian; Bigi, Sandra; Mori, Andrea Capone; Datta, Alexandre; Fluss, Joel; Hackenberg, Annette et al.
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Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study

European Journal of Paediatric Neurology
2019 | Journal article
Contributors: Cohen, Marjolaine; Zesiger, Pascal; Merlini, Laura; de Haller, Raoul; Fluss, Joel
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Perinatal stroke syndromes: Similarities and diversities in aetiology, outcome and management

European Journal of Paediatric Neurology
2019 | Journal article
Contributors: Fluss, Joel; Dinomais, Mickael; Chabrier, Stephane
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The effects of dual tasks on gait in children with cerebral palsy

Gait & Posture
2019 | Journal article
Contributors: Carcreff, Lena; Fluss, Joel; Allali, Gilles; Valenza, Nathalie; Aminian, Kamiar; Newman, Christopher J.; Armand, Stephane
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COGNITIVE REGRESSION IN A SOMALIAN ADOLESCENT CAUSED BY SUBACUTE SCLEROSING PANENCEPHALITIS: THE TRAGIC BURDEN OF ONGOING MEASLES EPIDEMICS IN DEVELOPING COUNTRIES

Schweizerische Medizinische Wochenschrift
2018 | Journal article
Contributors: Salamoni, M.; Wagner, N.; Zanella, M. -C.; Fluss, J.
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel <i>CTSD</i> Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

Neuropediatrics
2018 | Journal article
Contributors: Varvagiannis, K.; Hanquinet, S.; Billieux, M. H.; De Luca, R.; Rimensberger, P.; Lidgren, M.; Guipponi, M.; Makrythanasis, P.; Blouin, J. L.; Antonarakis, S. E. et al.
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Dexterity and Finger Sense: A Possible Dissociation in Children With Cerebral Palsy

Perceptual and Motor Skills
2018 | Journal article
Contributors: Guedin, Nolwenn; Fluss, Joel; Thevenot, Catherine
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Feasibility, safety, and outcome of recanalization treatment in childhood stroke

Annals of Neurology
2018 | Journal article
Contributors: Bigi, Sandra; Dulcey, Andrea; Gralla, Jan; Bernasconi, Corrado; Melliger, Amber; Datta, Alexandre N.; Arnold, Marcel; Kaesmacher, Johannes; Fluss, Joel; Hackenberg, Annette et al.
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HOW DO PEDIATRICIANS RULE OUT UNDERLYING ORGANIC ETIOLOGIES AMONG ADOLESCENTS WITH THE FIRST EPISODE OF PSYCHOTIC SYMPTOMS?

Schweizerische Medizinische Wochenschrift
2018 | Journal article
Contributors: Soroken, C.; Kern, I.; Fluss, J.; Korff, C.; Perin-Minisini, M. -J.; Lorillard, S.; Barbe, R.; Posfay-Barbe, K.; Merglen, A.; Caflisch, M.
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Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke

Developmental Medicine & Child Neurology
2018 | Journal article
Contributors: Thebault, Guillaume; Martin, Sophie; Brouillet, Denis; Brunel, Lionel; Dinomais, Mickael; Presles, Emilie; Fluss, Joel; Chabrier, Stephane
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MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein

Journal of Neurology
2018 | Journal article
Contributors: Baumann, Matthias; Grams, Astrid; Djurdjevic, Tanja; Wendel, Eva-Maria; Lechner, Christian; Behring, Bettina; Blaschek, Astrid; Diepold, Katharina; Eisenkoelbl, Astrid; Fluss, Joel et al.
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Peer review (3 reviews for 2 publications/grants)

Review activity for Pediatric neurology. (2)
Review activity for PloS one. (1)