Autistic Spectrum Disorders - Child & Adolescent

Publications | Phd and Masters theses

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41 publications

In press | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2016 |
In press
 
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F., Serpieri V., Taccagni C.M., Garau J., Cattaneo L., Boggioni M., Gana S., Battini R., Bertini E., Zanni G. et al. European journal of human genetics. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0FE1AE2BBAEE]
2024
 
Détection et prise en charge des patients avec états mentaux à risque de psychose [Detection and management of patients with clinical high risk for psychosis]
Piguet C., Decoro V., Paris V., De Lucia S., Curtis L., Armando M., 2024/09/18. Revue medicale suisse, 20 (887) pp. 1638-1644. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_B0EA4487E84A]
Sex-specific interactions between stress axis and redox balance are associated with internalizing symptoms and brain white matter microstructure in adolescents.
Schilliger Z., Alemán-Gómez Y., Magnus Smith M., Celen Z., Meuleman B., Binz P.A., Steullet P., Do K.Q., Conus P., Merglen A. et al., 2024/01/17. Translational psychiatry, 14 (1) p. 30. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CCCA37EE5321]
 
Catatonia is an outpatient reality. What do we do now?
Ferrafiat V., Wachtel L., Dhossche D., Hauptman A., 2024/01/05. Schizophrenia research, 264 pp. 233-235. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5FE5DAFCCF6B]
2023
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Kopal J., Kumar K., Saltoun K., Modenato C., Moreau C.A., Martin-Brevet S., Huguet G., Jean-Louis M., Martin C.O., Saci Z. et al., 2023/06. Nature human behaviour, 7 (6) pp. 1001-1017. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DDB4A3FF4DEE]
Brain network dynamics in the alpha band during a complex postural control task.
Aubonnet R., Hassan M., Mheich A., Di Lorenzo G., Petersen H., Gargiulo P., 2023/04/03. Journal of neural engineering, 20 (2). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4D5CC39AA080]
Sporadic fasting reduces attentional control without altering overall executive function in a binary classification task.
Ballestero-Arnau M., Rodríguez-Herreros B., Nuño-Bermúdez N., Cunillera T., 2023/03/01. Physiology & behavior, 260 p. 114065. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_2608F99389C9]
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
White L.K., Crowley T.B., Finucane B., McClellan E.J., Donoghue S., Garcia-Minaur S., Repetto G.M., Fischer M., Jacquemont S., Gur R.E. et al., 2023/01/07. Genes, 14 (1) p. 169. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F4192F47B167]
A multidimensional model of memory complaints in older individuals and the associated hub regions.
Paban V., Mheich A., Spieser L., Sacher M., 2023. Frontiers in aging neuroscience, 15 p. 1324309. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_01E70EA8CB49]
2022
 
Multi-site Normative Modeling of Diffusion Tensor Imaging Metrics Using Hierarchical Bayesian Regression.
Villalón-Reina J.E., Moreau C.A., Nir T.M., Jahanshad N., Simons Variation in Individuals Project Consortium, Maillard A., Romascano D., Draganski B., Lippé S., Bearden C.E. et al., 2022/09. Medical image computing and computer-assisted intervention, 13431 pp. 207-217. Peer-reviewed.
[DOI][Pmid][serval:BIB_7AADC82249D9]
Spatio-temporal dynamics of large-scale electrophysiological networks during cognitive action control in healthy controls and Parkinson's disease patients.
Duprez J., Tabbal J., Hassan M., Modolo J., Kabbara A., Mheich A., Drapier S., Vérin M., Sauleau P., Wendling F. et al., 2022/09. NeuroImage, 258 p. 119331. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_615A61115C80]
Autisme et séquelles de trouble réactionnel de l’attachement à l’âge adulte : chevauchement des symptômes [Autism and attachment difficulties in adulthood : Overlap of symptoms]
Klila H., Giuliani F., 2022/06/29. Revue medicale suisse, 18 (788) pp. 1330-1333. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_05ABE26529F6]
 
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
White L.K., Crowley T.B., Finucane B., Garcia-Minaur S., Repetto G.M., van den Bree M., Fischer M., Jacquemont S., Barzilay R., Maillard A.M. et al., 2022/04. Journal of intellectual disability research, 66 (4) pp. 313-322. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_82CB96D615E5]
Case Report: Opioid Use Disorder Associated With Low/Moderate Dose of Loperamide in an Intellectual Disability Patient With CYP3A and P-Glycoprotein Reduced Activity.
Guinchat V., Ansermot N., Ing Lorenzini K., Politis D., Daali Y., Eap C.B., Crettol S., 2022. Frontiers in psychiatry, 13 p. 910684. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8AD25DFBCE50]
Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders.
Guinchat V., Baeza-Velasco C., Bulbena A., Castori M., 2022. Frontiers in psychiatry, 13 p. 1109515. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_231C19005969]
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Sønderby I.E., Ching CRK, Thomopoulos S.I., van der Meer D., Sun D., Villalon-Reina J.E., Agartz I., Amunts K., Arango C., Armstrong N.J. et al., 2022/01. Human brain mapping, 43 (1) pp. 300-328. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5F029CA6DCDE]
2021
Sex differences in sensory processing in children with autism spectrum disorder.
Osório JMA, Rodríguez-Herreros B., Richetin S., Junod V., Romascano D., Pittet V., Chabane N., Jequier Gygax M., Maillard A.M., 2021/11. Autism research, 14 (11) pp. 2412-2423. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EB9B693703B8]
Uncovering the Mechanisms of Real‐World Attentional Control Over the Course of Primary Education
Turoman Nora, Tivadar Ruxandra I., Retsa Chrysa, Maillard Anne M., Scerif Gaia, Matusz Pawel J., 2021/11. Mind, Brain, and Education, 15 (4) pp. 344-353.
[URN][DOI][WoS][serval:BIB_4957A4E29E6D]
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B., Jequier Gygax M., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O'Heir E., Burrage L.C., Allen J., Emrick L.T. et al., 2021/10/26. Molecular autism, 12 (1) p. 69. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_665170C14526]
Situations complexes chez l’adulte avec déficience intellectuelle sévère - Un nouveau modèle d’accompagnement [Complex situations in adults with severe intellectual disabilities - A new support model]
Guinchat V., Brébant A.F., Chabane N., 2021/09/22. Revue medicale suisse, 17 (751) pp. 1611-1613. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_09F029791302]
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand B., Cisarova K., Niel Bütschi F., Foletti G., Guinchat V., Tran C., Superti-Furga A., Good J.M., 2021/08. American journal of medical genetics. Part A, 185 (8) pp. 2602-2606. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F533D2A35FEA]
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., Jean-Louis M., Martin C.O., Younis N., Tamer P. et al., 2021/07/20. Translational psychiatry, 11 (1) p. 399. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D6D73F89EAB9]
Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication.
Linden S.C., Watson C.J., Smith J., Chawner SJRA, Lancaster T.M., Evans F., Williams N., Skuse D., Raymond F.L., Hall J. et al., 2021/06/18. Translational psychiatry, 11 (1) p. 372. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8BDA2BB50C97]
Bayonet-shaped language development in autism with regression: a retrospective study.
Gagnon D., Zeribi A., Douard É., Courchesne V., Rodríguez-Herreros B., Huguet G., Jacquemont S., Loum M.A., Mottron L., 2021/05/13. Molecular autism, 12 (1) p. 35. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8F02B828037D]
Trouble du spectre de l’autisme chez l’adulte verbal sans déficience intellectuelle (syndrome d’Asperger) [Autism spectrum disorder in verbal adults without intellectual disabilities (Asperger syndrome)]
Klila H., Giuliani F., 2021/04/14. Revue medicale suisse, 17 (734) pp. 751-753. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_56542C5891CB]
The development of attentional control mechanisms in multisensory environments.
Turoman N., Tivadar R.I., Retsa C., Maillard A.M., Scerif G., Matusz P.J., 2021/04. Developmental cognitive neuroscience, 48 p. 100930. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D1C43572D614]
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby I.E., van der Meer D., Moreau C., Kaufmann T., Walters G.B., Ellegaard M., Abdellaoui A., Ames D., Amunts K., Andersson M. et al., 2021/03/22. Translational psychiatry, 11 (1) p. 182. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_89117CC8B7BA]
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.
Osório JMA, Rodríguez-Herreros B., Romascano D., Junod V., Habegger A., Pain A., Richetin S., Yu P., Isidor B., Van Maldergem L. et al., 2021/02/05. Molecular autism, 12 (1) p. 8. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8C260339EF96]
 
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Linden S.C., Watson C.J., Smith J., Chawner SJRA, Lancaster T.M., Evans F., Williams N., Skuse D., Raymond F.L., Hall J. et al., 2021/02/04. Translational psychiatry, 11 (1) p. 105. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FC04B9867C5C]
 
Behavioural and emotional profiles of children and adolescents with disorders of arousal.
Castelnovo A., Turner K., Rossi A., Galbiati A., Gagliardi A., Proserpio P., Nobili L., Terzaghi M., Manni R., Ferini Strambi L. et al., 2021/02. Journal of sleep research, 30 (1) pp. e13188. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5A8CF722B701]
Cancer Care of Children, Adolescents and Adults With Autism Spectrum Disorders: Key Information and Strategies for Oncology Teams
Vuattoux Delphine, Colomer-Lahiguera Sara, Fernandez Pierre-Alain, Jequier Gygax Marine, Choucair Marie-Louise, Beck-Popovic Maja, Diezi Manuel, Manificat Sabine, Latifyan Sofiya, Ramelet Anne-Sylvie et al., 2021/01/19. Frontiers in Oncology, 10.
[URN][DOI][serval:BIB_E72708EF0DF5]
 
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.
Chawner SJRA, Doherty J.L., Anney RJL, Antshel K.M., Bearden C.E., Bernier R., Chung W.K., Clements C.C., Curran S.R., Cuturilo G. et al., 2021/01/01. The American journal of psychiatry, 178 (1) pp. 77-86. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5ECDBFBED24E]
Apolipoprotein E allele 4 effects on Single-Subject Gray Matter Networks in Mild Cognitive Impairment.
Sanabria-Diaz G., Demonet J.F., Rodriguez-Herreros B., Draganski B., Kherif F., Melie-Garcia L., 2021. NeuroImage. Clinical, 32 p. 102799. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0DDB198CB88A]
Could Gait Biomechanics Become a Marker of Atypical Neuronal Circuitry in Human Development?-The Example of Autism Spectrum Disorder.
Jequier Gygax M., Maillard A.M., Favre J., 2021. Frontiers in bioengineering and biotechnology, 9 p. 624522. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DB8222940DBE]
2020
Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.
Chawner SJRA, Mihaljevic M., Morrison S., Eser H.Y., Maillard A.M., Nowakowska B., MINDDS Consortium, van den Bree MBM, Swillen A., 2020/12. European journal of medical genetics, 63 (12) p. 104093. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CAFE2CE91042]
Compressive Garments in Individuals with Autism and Severe Proprioceptive Dysfunction: A Retrospective Exploratory Case Series.
Guinchat V., Vlamynck E., Diaz L., Chambon C., Pouzenc J., Cravero C., Baeza-Velasco C., Hamonet C., Xavier J., Cohen D., 2020/07/13. Children, 7 (7). Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_D2C1807B480D]
 
Multidisciplinary treatment plan for challenging behaviors in neurodevelopmental disorders.
Guinchat V., Cravero C., Lefèvre-Utile J., Cohen D., 2020. Handbook of clinical neurology, 174 pp. 301-321. Peer-reviewed.
[DOI][Pmid][serval:BIB_1175C2E59384]
2019
 
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch A.E., Douard E., Moreau C., Van Dijck A., Passeggeri M., Kooy F., Puechberty J., Campbell C., Sanlaville D., Lefroy H. et al., 2019/10. Journal of medical genetics, 56 (10) pp. 701-710. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_93F6E212F4D0]
 
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M., Chawner SJRA, Doherty J.L., Maillard A.M., Jacquemont S., Chung W.K., Green-Snyder L., Bernier R.A., Goin-Kochel R.P., Hanson E. et al., 2019/03/05..
[DOI][WoS][Pmid][serval:BIB_F226247C7F6B]
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M., Chawner SJRA, Doherty J.L., Maillard A.M., Jacquemont S., Chung W.K., Green-Snyder L., Bernier R.A., Goin-Kochel R.P., Hanson E. et al., 2019/01/16. Translational psychiatry, 9 (1) p. 8. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7215F92283AE]
2016
Diagnostic des troubles du spectre autistique, un enjeu pour un meilleur accompagnement des personnes [Autism spectrum disorder : a diagnosis for a better support]
Chabane N., Manificat S., 2016/09/21. Revue medicale suisse, 12 (531) pp. 1566-1571. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_35E7A70C6DFE]
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