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201. Test of protected silver coating on aluminum samples of ARIEL main telescope mirror substrate material

Author

Chioetto, Paolo, primary, Zupella, Paola, additional, Da Deppo, Vania, additional, Nordera, Simone, additional, Pace, Emanuele, additional, Tozzi, Andrea, additional, Morgante, Gianluca, additional, Terenzi, Luca, additional, Brienza, Daniele, additional, Missaglia, Nadia, additional, Bianucci, Giovanni, additional, Spinelli, Sebastiano, additional, Guerriero, Elisa, additional, Rossi, Massimiliano, additional, Grisoni, Gabriele, additional, Bondet, Colin, additional, Chauveau, Grégory, additional, Porta, Caroline, additional, Grezes-Besset, Catherine, additional, Malaguti, Giuseppe, additional, and Micela, Giuseppina, additional

Published
2021
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202. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Author

Bonardi, Claudia M, primary, Heyne, Henrike O, additional, Fiannacca, Martina, additional, Fitzgerald, Mark P, additional, Gardella, Elena, additional, Gunning, Boudewijn, additional, Olofsson, Kern, additional, Lesca, Gaétan, additional, Verbeek, Nienke, additional, Stamberger, Hannah, additional, Striano, Pasquale, additional, Zara, Federico, additional, Mancardi, Maria M, additional, Nava, Caroline, additional, Syrbe, Steffen, additional, Buono, Salvatore, additional, Baulac, Stephanie, additional, Coppola, Antonietta, additional, Weckhuysen, Sarah, additional, Schoonjans, An-Sofie, additional, Ceulemans, Berten, additional, Sarret, Catherine, additional, Baumgartner, Tobias, additional, Muhle, Hiltrud, additional, Portes, Vincent des, additional, Toulouse, Joseph, additional, Nougues, Marie-Christine, additional, Rossi, Massimiliano, additional, Demarquay, Geneviève, additional, Ville, Dorothée, additional, Hirsch, Edouard, additional, Maurey, Hélène, additional, Willems, Marjolaine, additional, de Bellescize, Julitta, additional, Altuzarra, Cecilia Desmettre, additional, Villeneuve, Nathalie, additional, Bartolomei, Fabrice, additional, Picard, Fabienne, additional, Hornemann, Frauke, additional, Koolen, David A, additional, Kroes, Hester Y, additional, Reale, Chiara, additional, Fenger, Christina D, additional, Tan, Wen-Hann, additional, Dibbens, Leanne, additional, Bearden, David R, additional, Møller, Rikke S, additional, and Rubboli, Guido, additional

Published
2021
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203. Flavonoids: A Myth or a Reality for Cancer Therapy?

Author

Forni, Cinzia, primary, Rossi, Massimiliano, additional, Borromeo, Ilaria, additional, Feriotto, Giordana, additional, Platamone, Giovambattista, additional, Tabolacci, Claudio, additional, Mischiati, Carlo, additional, and Beninati, Simone, additional

Published
2021
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205. Additional file 3 of Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

Author

GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, and DEMILY, Caroline

Subjects
genetic structures, digestive, oral, and skin physiology, sense organs, eye diseases
Abstract

Additional file 3: Proband. [A] and [B]: patient at 3 years of age, side and front photographs; [C] and [D]: patient at 10 years of age, side and front photographs. Note his highly arched eyebrows, hypertelorism, strabismus, proptosis and downslanted palpebral fissure, thick alae nasi, short philtrum and large central incisors, everted upper lip, narrow mouth, prominent and large ears with uptilted lobules, and retrognathia.

Published
2021
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206. Additional file 2 of 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Author

Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, and Faivre, Laurence

Abstract

Additional file 2: Figure S1. Access to care and referrals. A: Map of the network: RCRD (round)/CERD (triangles) of the network, with inactive centers for entering patients in the CEMARA database in yellow. B: Number of patients with a developmental disorder referred to an AnDDI-Rares RCRD/CERD varied according to the French departments. The map should be analyzed along with supplementary figure 1A. C: Distance necessary to access to an expert consultation in the total population, and for the four diseases of interest (Rubinstein-Taybi, Cornelia de Lange, 22q11 and Williams syndromes). A median of 25.1 km was found (Q1: 6.3 km – Q3: 64.2 km) for the total population

Published
2021
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208. Additional file 2 of Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

Author

GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, and DEMILY, Caroline

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, stomatognathic diseases, integumentary system, digestive, oral, and skin physiology, otorhinolaryngologic diseases
Abstract

Additional file 2: Aunt 1. [A] and [B]: front and side photographs. Note her heart-shaped face, soft fine hair, highly arched eyebrow, high broad forehead, bilateral ptosis, large front teeth and mild micrognathia.

Published
2021
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209. Additional file 1 of 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Author

Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, and Faivre, Laurence

Abstract

Additional file 1: Table S1. The minimum data set of the CEMARA database. Table S2. The twenty most frequent groups of diseases, with their ORPHA code, number seen in the AnDDI-Rares network, number in CEMARA (differential number seen by reference centers of other networks)

Published
2021
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211. Additional file 3 of 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Author

Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, and Faivre, Laurence

Abstract

Additional file 3: Data 1. Handling of duplicates. For the 4 diseases of interest, LinkPlus detected 247 potential pairs including 163 exact match pairs. For the remaining pairs (84), we conducted a manual review. The file with the last activity was kept. It resulted that most of them were not duplicates (58). Finally, we pooled all pairs of duplicates and observed triples (8). As a result, we excluded the 204 duplicate files from analysis

Published
2021
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212. DefocusTracker:A Modular Toolbox for Defocusing-based, Single-Camera, 3D Particle Tracking

Author

Barnkob, Rune and Rossi, Massimiliano

Subjects
MATLAB, velocimetry, Particle tracking, Fluid Dynamics (physics.flu-dyn), ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION, FOS: Physical sciences, particle tracking, PTV, general defocusing particle tracking, fluid dynamics, Python, Velocimetry, Physics - Fluid Dynamics, ptv, python, QA76.75-76.765, matlab, Fluid dynamics, particle tracking velocimetry, microfluidics, acoustofluidics, lab-on-a-chip, General defocusing particle tracking, Computer software
Abstract

The need for single-camera 3D particle tracking methods is growing, among others, due to the increasing focus in biomedical research often relying on single-plane microscopy imaging. Defocusing-based methods are ideal for a wide-spread use as they rely on basic microscopy imaging rather than requiring additional non-standard optics. However, a wide-spread use has been limited by the lack of accessible and easy-to-use software. DefocusTracker is an open-source toolbox based on the universal principles of General Defocusing Particle Tracking (GDPT) relying solely on a reference look-up table and image recognition to connect a particle's image and its respective out-of-plane depth coordinate. The toolbox is built in a modular fashion, allowing for easy addition of new image recognition methods, while maintaining the same workflow and external user interface. DefocusTracker is implemented in MATLAB, while a parallel implementation in Python is in the preparation., Comment: 11 pages, 3 figures, submitted for Journal of Open Research Software (JORS)

Published
2021

214. Introducing the COVID-19 crisis Special Education Needs Coping Survey

Author

Dukes, Daniel, Van Herwegen, Jo, Alessandri, Michael, Al Nemary, Faisal, Amani Rad, Jamal, Banta Lavenex, Pamela, Bolshakov, Nikita, Bölte, Sven, Buffle, Paulina, Ying Cai, Ru, Campos, Ruth, Chirita, Adela, Pinto Coelho da Costa, Andreia, Costanzo, Floriana, di Poi, Giona, Des Portes, Vincent, Faivre, Laurence, Famelart, Nawelle, Fisher, Marisa, Gamaiunova, Liudmila, Giannadou, Aikaterina, Gupta, Rashmi, Hanley, Mary T., Hardan, Antonio Y., Houdayer, Françoise, Hrnčířová, Lenka, Hugon, Anne, Klein-Tasman, Bonita P., Kovani, Panagiota, Lavenex, Pierre, Libove, Robin, Malik, Supriya, Mari, Francesca, Martínez-Castilla,, Pastora, Menghini, Deny, Meuleman, Ben, Nuske, Heather J., Palikara, Olympia, Papageorgiou, Athina, Papon, Anouk, Pegg, Robin, Poustka, Luise, Prosetzky, Ingolf, Renieri, Alessandra, Reza Pouretemad, Hamid, Rhodes, Sinead, Riby, Deborah, Rossi, Massimiliano, Sadeghi, Saeid, Stallmann, Lina, Squillaci, Myriam, Su, Xueyun, Tai, Hungtzu (Claire), Tran, Michel, Treichel, Noémie, Tynan, Fionnuala, Uljarević, Mirko, Van Hecke, Amy, Veiga, Guida, Verloes, Alain, Vicari, Stefano, Werneck-Rohrer, Sonja, Zander, Eric, Samson, Andrea C., Dukes, Daniel, Van Herwegen, Jo, Alessandri, Michael, Al Nemary, Faisal, Amani Rad, Jamal, Banta Lavenex, Pamela, Bolshakov, Nikita, Bölte, Sven, Buffle, Paulina, Ying Cai, Ru, Campos, Ruth, Chirita, Adela, Pinto Coelho da Costa, Andreia, Costanzo, Floriana, di Poi, Giona, Des Portes, Vincent, Faivre, Laurence, Famelart, Nawelle, Fisher, Marisa, Gamaiunova, Liudmila, Giannadou, Aikaterina, Gupta, Rashmi, Hanley, Mary T., Hardan, Antonio Y., Houdayer, Françoise, Hrnčířová, Lenka, Hugon, Anne, Klein-Tasman, Bonita P., Kovani, Panagiota, Lavenex, Pierre, Libove, Robin, Malik, Supriya, Mari, Francesca, Martínez-Castilla,, Pastora, Menghini, Deny, Meuleman, Ben, Nuske, Heather J., Palikara, Olympia, Papageorgiou, Athina, Papon, Anouk, Pegg, Robin, Poustka, Luise, Prosetzky, Ingolf, Renieri, Alessandra, Reza Pouretemad, Hamid, Rhodes, Sinead, Riby, Deborah, Rossi, Massimiliano, Sadeghi, Saeid, Stallmann, Lina, Squillaci, Myriam, Su, Xueyun, Tai, Hungtzu (Claire), Tran, Michel, Treichel, Noémie, Tynan, Fionnuala, Uljarević, Mirko, Van Hecke, Amy, Veiga, Guida, Verloes, Alain, Vicari, Stefano, Werneck-Rohrer, Sonja, Zander, Eric, and Samson, Andrea C.

Abstract

Individuals with special education needs have been particularly affected by the COVID-19 pandemic as they have been shown to be at high risk of losing medical and institutional support at a time when people are being asked to stay isolated, suffering increased anxiety and depression as a consequence. Their families have often found themselves under tremendous pressure to provide support, engendering financial hardship, and physical and emotional strains. In such times, it is vital that international collaborations assess the impact on the individuals and their families, affording the opportunity to make national and international comparisons of how people have coped and what needs to be done to optimize the measures taken by families, associations and governments. This paper introduces one such collaboration.

Published
2021

215. KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum

Author

Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido, Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., and Rubboli, Guido

Abstract

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy

Published
2021

216. Modeling and Observation of Nonlinear Damping in Dissipation-Diluted Nanomechanical Resonators

Author

Catalini, Letizia, Rossi, Massimiliano, Langman, Eric C., Schliesser, Albert, Catalini, Letizia, Rossi, Massimiliano, Langman, Eric C., and Schliesser, Albert

Abstract

Dissipation dilution enables extremely low linear loss in stressed, high aspect ratio nanomechanical resonators, such as strings or membranes. Here, we report on the observation and theoretical modeling of nonlinear dissipation in such structures. We introduce an analytical model based on von Karrnan theory, which can be numerically evaluated using finite-clement models for arbitrary geometries. We use this approach to predict nonlinear loss and (Duffing) frequency shift in ultracoherent phononic membrane resonators. A set of systematic measurements with silicon nitride membranes shows good agreement with the model for low-order soft-clamped modes. Our analysis also reveals quantitative connections between these nonlinearities and dissipation dilution. This is of interest for future device design and can provide important insight when diagnosing the performance of dissipation dilution in an experimental setting.

Published
2021

217. How Euglena gracilis swims:Flow field reconstruction and analysis

Author

Giuliani, Nicola, Rossi, Massimiliano, Noselli, Giovanni, Desimone, Antonio, Giuliani, Nicola, Rossi, Massimiliano, Noselli, Giovanni, and Desimone, Antonio

Abstract

Euglena gracilis is a unicellular organism that swims by beating a single anterior flagellum. We study the nonplanar waveforms spanned by the flagellum during a swimming stroke and the three-dimensional flows that they generate in the surrounding fluid. Starting from a small set of time-indexed images obtained by optical microscopy on a swimming Euglena cell, we construct a numerical interpolation of the stroke. We define an optimal interpolation (which we call synthetic stroke) by minimizing the discrepancy between experimentally measured velocities (of the swimmer) and those computed by solving numerically the equations of motion of the swimmer driven by the trial interpolated stroke. The good match we obtain between experimentally measured and numerically computed trajectories provides a first validation of our synthetic stroke. We further validate the procedure by studying the flow velocities induced in the surrounding fluid. We compare the experimentally measured flow fields with the corresponding quantities computed by solving numerically the Stokes equations for the fluid flow, in which the forcing is provided by the synthetic stroke, and find good matching. Finally, we use the synthetic stroke to derive a coarse-grained model of the flow field resolved in terms of a few dominant singularities. The far field is well approximated by a time-varying Stresslet, and we show that the average behavior of Euglena during one stroke is that of an off-axis puller. The reconstruction of the flow field closer to the swimmer body requires a more complex system of singularities. A system of two Stokeslets and one Rotlet, that can be loosely associated with the force exerted by the flagellum, the drag of the body, and a torque to guarantee rotational equilibrium, provides a good approximation.

Published
2021

218. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Author

Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido, Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, and Rubboli, Guido

Published
2021

221. ORIGINAL RESEARCH—ERECTILE DYSFUNCTION: Penile Doppler Ultrasound in Patients with Erectile Dysfunction (ED): Role of Peak Systolic Velocity Measured in the Flaccid State in Predicting Arteriogenic ED and Silent Coronary Artery Disease

Author

Corona, Giovanni, Fagioli, Giorgio, Mannucci, Edoardo, Romeo, Annadina, Rossi, Massimiliano, Lotti, Francesco, Sforza, Alessandra, Morittu, Stefano, Chiarini, Valerio, Casella, Gianni, Di Pasquale, Giuseppe, Bandini, Elisa, Forti, Gianni, and Maggi, Mario

Published
2008
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222. Impact of attenuation correction and gated acquisition in SPECT myocardial perfusion imaging: results of the multicentre SPAG (SPECT Attenuation Correction vs Gated) study

Author

Genovesi, Dario, Giorgetti, Assuero, Gimelli, Alessia, Kusch, Annette, D’Aragona Tagliavia, Irene, Casagranda, Mirta, Cannizzaro, Giorgio, Giubbini, Raffaele, Bertagna, Francesco, Fagioli, Giorgio, Rossi, Massimiliano, Romeo, Annadina, Bertolaccini, Pietro, Bonini, Rita, and Marzullo, Paolo

Published
2011
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224. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Author

Abi Habib, Walid, Azzi, Salah, Brioude, Frédéric, Steunou, Virginie, Thibaud, Nathalie, Neves, Cristina Das, Le Jule, Marilyne, Chantot-Bastaraud, Sandra, Keren, Boris, Lyonnet, Stanislas, Michot, Caroline, Rossi, Massimiliano, Pasquier, Laurent, Gicquel, Christine, Rossignol, Sylvie, Le Bouc, Yves, and Netchine, Irène

Published
2014
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225. Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes.

Author

Guilhem, Alexandre, Ruet, Severine, Edery, Patrick, Acquaviva, Cecile, and Rossi, Massimiliano

Subjects
ELASTIN, LIQUID chromatography-mass spectrometry, LYSYL oxidase
Abstract

The article discusses the role of elastin turnover in two genetic syndromes, Williams-Beuren syndrome (WBS) and 7q11.23 microduplication syndrome. Elastin is a protein found in tissues like blood vessels that require resilience to deformation. The study found that elastin turnover is higher in children, especially in the first year of life when elastin biosynthesis is active. The researchers suggest that urinary desmosines (uDES) may be a more sensitive marker of elastin turnover than plasma desmosines (pDES). The study also found that children with WBS have low elastin turnover, likely due to a defect in elastin biosynthesis caused by ELN haploinsufficiency. Further research is needed to better understand elastin metabolism in 7q11.23 chromosomal imbalance and the clinical relevance of uDES as a biomarker. [Extracted from the article]

Published
2024
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233. Efficiently Merging r-indexes

Author

Oliva, Marco, primary, Rossi, Massimiliano, additional, Siren, Jouni, additional, Manzini, Giovanni, additional, Kahveci, Tamer, additional, Gagie, Travis, additional, and Boucher, Christina, additional

Published
2021
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234. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Author

Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric, Fiala, Elise, Grange, Dorothy, Meschino, Wendy, Hiatt, Susan, Cooper, Gregory, Olivié, Hilde, Smith, Wendy, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan, Miramar, Dolores, van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna, Pajusalu, Sander, Õunap, Katrin, Filiano, James, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William, Hevner, Robert, Thauvin-Robinet, Christel, Couvet, Sandrine, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, FHU TRANSLAD (CHU de Dijon), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Department of Pediatrics [Seattle], University of Washington [Seattle], Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Service de Génétique [CHU Lyon] (Centre de pathologie de l'Est), Hospices civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Genetics of Neurodevelopment (GENDEV), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Service de Neurologie Pédiatrique [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Département de génétique (groupe hospitalier le Havre), Groupe Hospitalier du Havre, Centre Hospitalier Intercommunal de Créteil (CHIC), Department of Pediatrics [Philadelphia, PA, USA] (Division of Genetics), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics [Philadelphia, PA, USA], Mayo Clinic [Rochester], Department of Pediatrics [Saint Louis, MO, USA] (Division of Genetics and Genomic Medicine), Washington University in Saint Louis (WUSTL), Department of Genetics [Saint-Louis], HudsonAlpha Institute for Biotechnology [Huntsville, AL], University Hospitals Leuven [Leuven], Maine Medical Center, University of British Columbia [Vancouver], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), CHU Bordeaux [Bordeaux], Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), University Medical Center Groningen [Groningen] (UMCG), University of Tartu, Dartmouth Hitchcock Medical Center [Lebanon, NH, USA] (DHMC), Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau], Service de Génétique et Biologie Moléculaires [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), GeneDx [Gaithersburg, MD, USA], Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)

Subjects
Proband, Candidate gene, INTELLECTUAL DISABILITY, MESH: Hippocampus, [SDV]Life Sciences [q-bio], MESH: Cognition, MESH: Neocortex, MESH: Child, Intellectual disability, MESH: Craniofacial Abnormalities, MESH: Animals, MESH: Syndrome, Genetics (clinical), Genetics, PROGENITORS, biology, Phenotype, NEOCORTEX, [SDV] Life Sciences [q-bio], EXPRESSION, GENES, MESH: Mutation, MESH: T-Box Domain Proteins, MESH: Autistic Disorder, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Article, REGION, MESH: Intellectual Disability, NEUROGENESIS, Dysgenesis, FEZF2, medicine, MESH: Mice, MESH: Adolescent, MESH: Humans, MUTATIONS, business.industry, MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Autism, TBR1, business, Neurocognitive, MESH: Female
Abstract

International audience; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.

Published
2020

235. Algorithms and Data Structures for Coding, Indexing, and Mining of Sequential Data

Author

Rossi, Massimiliano

Subjects
coding theory, indexing, data compression, prefix normal words, Lempel-Ziv decompression, colored strings, Ulam-Rényi game, minimum entropy coupling, colored strings, Settore INF/01 - Informatica, Lempel-Ziv decompression, Ulam-Rényi game, prefix normal words, coding theory, minimum entropy coupling, data compression, indexing
Published
2020

236. Fast and Efficient Rmap Assembly Using the Bi-Labelled de Bruijn Graph

Author

Mukherjee, Kingshuk, Rossi, Massimiliano, Salmela, Leena, Boucher, Christina, Mukherjee, Kingshuk, Rossi, Massimiliano, Salmela, Leena, and Boucher, Christina

Abstract

Genome wide optical maps are high resolution restriction maps that give a unique numeric representation to a genome. They are produced by assembling hundreds of thousands of single molecule optical maps, which are called Rmaps. Unfortunately, there exists very few choices for assembling Rmap data. There exists only one publicly-available non-proprietary method for assembly and one proprietary method that is available via an executable. Furthermore, the publicly-available method, by Valouev et al. (2006), follows the overlap-layout-consensus (OLC) paradigm, and therefore, is unable to scale for relatively large genomes. The algorithm behind the proprietary method, Bionano Genomics' Solve, is largely unknown. In this paper, we extend the definition of bi-labels in the paired de Bruijn graph to the context of optical mapping data, and present the first de Bruijn graph based method for Rmap assembly. We implement our approach, which we refer to as rmapper, and compare its performance against the assembler of Valouev et al. (2006) and Solve by Bionano Genomics on data from three genomes - E. coli, human, and climbing perch fish (Anabas Testudineus). Our method was the only one able to successfully run on all three genomes. The method of Valouev et al. (2006) only successfully ran on E. coli and Bionano Solve successfully ran on E. coli and human but not on the fish genome. Moreover, on the human genome rmapper was at least 130 times faster than Bionano Solve, used five times less memory and produced the highest genome fraction with zero mis-assemblies.

Published
2020
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238. Fast and Efficient Rmap Assembly Using the Bi-Labelled de Bruijn Graph

Author

Kingshuk Mukherjee and Massimiliano Rossi and Leena Salmela and Christina Boucher, Mukherjee, Kingshuk, Rossi, Massimiliano, Salmela, Leena, Boucher, Christina, Kingshuk Mukherjee and Massimiliano Rossi and Leena Salmela and Christina Boucher, Mukherjee, Kingshuk, Rossi, Massimiliano, Salmela, Leena, and Boucher, Christina

Abstract

Genome wide optical maps are high resolution restriction maps that give a unique numeric representation to a genome. They are produced by assembling hundreds of thousands of single molecule optical maps, which are called Rmaps. Unfortunately, there exists very few choices for assembling Rmap data. There exists only one publicly-available non-proprietary method for assembly and one proprietary method that is available via an executable. Furthermore, the publicly-available method, by Valouev et al. (2006), follows the overlap-layout-consensus (OLC) paradigm, and therefore, is unable to scale for relatively large genomes. The algorithm behind the proprietary method, Bionano Genomics' Solve, is largely unknown. In this paper, we extend the definition of bi-labels in the paired de Bruijn graph to the context of optical mapping data, and present the first de Bruijn graph based method for Rmap assembly. We implement our approach, which we refer to as rmapper, and compare its performance against the assembler of Valouev et al. (2006) and Solve by Bionano Genomics on data from three genomes - E. coli, human, and climbing perch fish (Anabas Testudineus). Our method was the only one able to successfully run on all three genomes. The method of Valouev et al. (2006) only successfully ran on E. coli and Bionano Solve successfully ran on E. coli and human but not on the fish genome. Moreover, on the human genome rmapper was at least 130 times faster than Bionano Solve, used five times less memory and produced the highest genome fraction with zero mis-assemblies.

Published
2020
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239. A fast and robust algorithm for general defocusing particle tracking:Paper

Author

Rossi, Massimiliano, Barnkob, Rune, Rossi, Massimiliano, and Barnkob, Rune

Abstract

The increasing use of microfluidics in industrial, biomedical, and clinical applications requires a more and more precise control of the microfluidic flows and suspended particles or cells. This leads to higher demands in three-dimensional and automated particle tracking methods, e.g. for use in feedback-control systems. General defocusing particle tracking (GDPT) is a 3D particle tracking method based on defocused particle images which is easy to use and requires standard laboratory equipment. In this work, we describe in detail a fast and robust algorithm for performing GDPT, which is suitable for automatized and real-time applications. Its key feature is a fast, segmentation-free approach to identify particles and estimate their 3D position. This detection step is followed by a refinement and iteration step to improve accuracy and identification of overlapping particles. We show that the algorithm is versatile and can be applied to different types of images (darkfield and brightfield). We use synthetic image sets of varying particle concentration to evaluate the performance of the algorithm in terms of detected depth coordinate uncertainty, particle detection rate, and processing time. The algorithm is applied and validated on experimental images showing that it is robust towards background or illumination fluctuations. Finally, to test the algorithm on real-time applications, we use synthetic images to set up a simulation framework with experimentally-relevant parameters and where the true particle positions are known.

Published
2020

240. Mechanically Mediated Entanglement of Propagating Optical Modes

Author

Chen, Junxin, Rossi, Massimiliano, Mason, David, Schliesser, Albert, Chen, Junxin, Rossi, Massimiliano, Mason, David, and Schliesser, Albert

Abstract

We demonstrate stationary entanglement between two non-degenerate propagating optical modes, via interaction with the same soft-clamped mechanical mode. We detect, without any corrections, correlations corresponding to a logarithmic negativity of E-N = 0.35. (C) 2020 The Author(s)

Published
2020

241. Quantum Measurement and Control of a Mechanical Resonator

Author

Rossi, Massimiliano and Rossi, Massimiliano

Abstract

Displacement measurements are found everywhere, both in scientific applications and in the everyday life. Classical physics and experience suggest that one can perform these measurements with unlimited precision upon technological improvements, without perturbing the measured system. Quantum physics, instead, changes this picture, predicting that the more precise a displacement measurement is done, the larger the disturbance, or quantum backaction, affecting the momentum of the measured system. As of today, the most precise displacement measurements are done by reflecting a laser field off a mechanical resonator and interferometrically measuring the phase of that field. This interaction, stemming from radiation pressure forces, is at the heart of the field of optomechanics. In such a displacement measurement, the imprecision and the quantum backaction arise from the quantum fluctuations of the optical phase and amplitude quadratures, respectively. In addition, mechanical systems unavoidably couple to a thermal environment, which introduces more disturbance and hinders the observation of quantum effects of the measurement. Nevertheless, an efficient quantum measurement can be realized whenever the information about the displacement is gathered at a rate close to the one at which the mechanical resonator is perturbed, due to both thermal forces and the quantum backaction. When available, the result of this measure-ment can be used to purify the state-of-knowledge held by an observer about the mechanics, that is, the conditional state. Based on this knowledge, the observer can exert a measurement-based quantum control to convert this conditional state into an unconditional one. In this thesis, we report experiments achieving quantum displacement measurements of a soft-clamped membrane resonator, inserted in the middle of an optical cavity. The cornerstones of the experiments are the extremely low dissipation rate of the mechanical energy and the high total detection ef

Published
2020

242. Size-dependent particle migration and trapping in three-dimensional microbubble streaming flows

Author

Volk, Andreas, Rossi, Massimiliano, Rallabandi, Bhargav, Kähler, Christian J., Hilgenfeldt, Sascha, Marin, Alvaro, Volk, Andreas, Rossi, Massimiliano, Rallabandi, Bhargav, Kähler, Christian J., Hilgenfeldt, Sascha, and Marin, Alvaro

Abstract

Acoustically actuated sessile bubbles can be used as a tool to manipulate microparticles, vesicles, and cells. In this work, using acoustically actuated sessile semicylindrical microbubbles, we demonstrate experimentally that finite-sized microparticles undergo size-sensitive migration and trapping toward specific spatial positions in three dimensions with high reproducibility. The particle trajectories are successfully reproduced by passive advection of the particles in a steady three-dimensional streaming flow field augmented with volume exclusion from the confining boundaries. For different particle sizes, this volume exclusion mechanism leads to three regimes of qualitatively different migratory behavior, suggesting applications for separating, trapping, and sorting of particles in three dimensions.

Published
2020

243. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Author

Alonso, Cárdenas-de-la-Parra, Sandra, Martin-Brevet, Clara, Moreau, Borja, Rodriguez-Herreros, Vladimir, S Fonov, Anne, M Maillard, Nicole, R Zürcher, 2 European Consortium, 16p11., Nouchine Hadjikhani 48, Jacques, S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1, Marie-Claude Addor, 7, Joris Andrieux, 8, Benoît Arveiler, 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco, Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Brusco, Alfredo, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca, Forzano, David Genevieve 29, Marion Gérard 30, Giachino, Daniela Francesca, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe, 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Rossi, Massimiliano, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Ecophysiologie Végétale, Agronomie et Nutritions (EVA), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Recherche Agronomique (INRA), Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Human Genetics, Université de Lausanne (UNIL), Service de génétique médicale, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, EHESP-Irset (EHESP-Irset), École des Hautes Études en Santé Publique [EHESP] (EHESP), CHU Pontchaillou [Rennes], National Institute of Child Health and Human Development, National Institute on Drug Abuse, 3388, MIRI Brain Canada, 201803PJT 400528 BSB, IVADO fund: a Canadian Institute of Health Research, Fonds de Recherche Nature et technologies du Québec, Roger De Spoelberch, Partridge Foundations, National Institute of Mental Health, N01-MH9-0002, National Institute of Neurological Disorders and Stroke, 33CS30-148401, National Science Foundation, MOP-111169, Canadian Institutes of Health Research, 31003A_160203, Schweizerischer Nationalfonds zur F&#x00F6, rderung der Wissenschaftlichen Forschung, Horizon 2020, Fondation Leenaards, and McGill University-McGill University

Subjects
Adult, Adolescent, DNA Copy Number Variations, Cognitive Neuroscience, Biology, computer.software_genre, 050105 experimental psychology, Imaging, White matter, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Voxel, Chromosome Duplication, Gene duplication, medicine, Genetics, Humans, 0501 psychology and cognitive sciences, Copy-number variation, Child, ComputingMilieux_MISCELLANEOUS, 16p11.2 Copy number variants, Brain development, Neurodevelopmental disorders, Normative growth trajectories, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Brain, medicine.anatomical_structure, Neurology, Evolutionary biology, Child, Preschool, Endophenotype, Human genome, Chromosome Deletion, Insula, computer, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
Abstract

Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4–5) confer high risk for neurodevelopmental disorders and are associated with structural brain alterations of large effect-size. Methods used in previous studies were unable to investigate the onset of these alterations and whether they evolve with age. In this study, we aim at characterizing age-related effects of 16p11.2 copy number variants by analyzing a group with a broad age range including younger individuals. A large normative developmental dataset was used to accurately adjust for effects of age. We normalized volumes of segmented brain regions as well as volumes of each voxel defined by tensor-based morphometry. Results show that the total intracranial volumes, the global gray and white matter volumes are respectively higher and lower in deletion and duplication carriers compared to control subjects at 4.5 years of age. These differences remain stable through childhood, adolescence and adulthood until 23 years of age (range: 0.5 to 1.0 Z-score). Voxel-based results are consistent with previous findings in 16p11.2 copy number variant carriers, including increased volume in the calcarine cortex and insula in deletions, compared to controls, with an inverse effect in duplication carriers (1.0 Z-score). All large effect-size voxel-based differences are present at 4.5 years and seem to remain stable until the age of 23. Our results highlight the stability of a neuroimaging endophenotype over 2 decades during which neurodevelopmental symptoms evolve at a rapid pace.

Published
2019

244. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Author

Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, and Rossi, Massimiliano

Subjects
17q duplication, specific language impairment, chromosomal microarray, developmental coordination disorder, specific learning disorder, Case Report, Case Reports, 21q deletion, dyspraxia, humanities, health care economics and organizations
Abstract

Key Clinical Message Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15–20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.

Published
2018

246. Introducing the COVID-19 crisis Special Education Needs Coping Survey

Author

Dukes, Daniel, primary, Van Herwegen, Jo, additional, Alessandri, Michael, additional, Alnemary, Faisal, additional, Rad, Jamal Amani, additional, Lavenex, Pamela Banta, additional, Bolshakov, Nikita, additional, Bölte, Sven, additional, Buffle, Paulina, additional, Cai, Ru Ying, additional, García, Ruth Campos, additional, Chirita, Adela, additional, Costa, Andreia P., additional, Costanzo, Floriana, additional, di Poi, Giona, additional, Portes, Vincent Des, additional, Faivre, Laurence, additional, Famelart, Nawelle, additional, Fisher, Marisa, additional, Gamaiunova, Liudmila, additional, Giannadou, Aikaterini, additional, Gupta, Rashmi, additional, Hanley, Mary, additional, Hardan, Antonio, additional, Houdayer, Françoise, additional, Hrncirova, Lenka, additional, Hugon, Anne, additional, Klein-Tasman, Bonnie, additional, Kovani, Panagiota, additional, Lavenex, Pierre, additional, Libove, Robin, additional, Malik, Supriya, additional, Mari, Francesca, additional, Martinez-Castilla, Pastora, additional, Menghini, Deny, additional, Meuleman, Ben, additional, Nuske, Heather, additional, Palikara, Olympia, additional, Papageorgiou, Athina, additional, Papon, Anouk, additional, Pegg, Robin, additional, Poustka, Luise, additional, Prosetzsky, Ingolf, additional, Renieri, Alessandra, additional, Pouretemad, Hamid Reza, additional, Rhodes, Sinead, additional, Riby, Deborah, additional, Rossi, Massimiliano, additional, Sadeghi, Saeid, additional, Stallmann, Lina, additional, Squillaci, Myriam, additional, Su, Xueyun, additional, Tai, Hungtzu, additional, Tran, Michel, additional, Treichel, Noémie, additional, Tynan, Fionnuala, additional, Uljarevic, Mirko, additional, Van Hecke, Amy, additional, Veiga, Guida, additional, Verloes, Alain, additional, Vicari, Stefano, additional, Werneck-Rohrer, Sonja, additional, Zander, Eric, additional, and Samson, Andrea C., additional

Published
2021
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250. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Author

Garde, Aurore, primary, Guibaud, Laurent, additional, Goldenberg, Alice, additional, Petit, Florence, additional, Dard, Rodolphe, additional, Roume, Joelle, additional, Mazereeuw‐Hautier, Juliette, additional, Chassaing, Nicolas, additional, Lacombe, Didier, additional, Morice‐Picard, Fanny, additional, Toutain, Annick, additional, Arpin, Stéphanie, additional, Boccara, Olivia, additional, Touraine, Renaud, additional, Blanchet, Patricia, additional, Coubes, Christine, additional, Willems, Marjolaine, additional, Pinson, Lucile, additional, Van Kien, Philippe Khau, additional, Chiaverini, Christine, additional, Giuliano, Fabienne, additional, Alessandri, Jean‐Luc, additional, Mathieu‐Dramard, Michèle, additional, Morin, Gilles, additional, Bursztejn, Anne‐Claire, additional, Mignot, Cyril, additional, Doummar, Diane, additional, Di Rocco, Frederico, additional, Cornaton, Jenny, additional, Nicolas, Claire, additional, Gautier, Elodie, additional, Luu, Maxime, additional, Bardou, Marc, additional, Sorlin, Arthur, additional, Philippe, Christophe, additional, Edery, Patrick, additional, Rossi, Massimiliano, additional, Carmignac, Virginie, additional, Thauvin‐Robinet, Christel, additional, Vabres, Pierre, additional, and Faivre, Laurence, additional

Published
2021
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