Citations 2
Translating AI research into reality: summary of the 2025 voice AI Symposium and Hackathon
Cruz, Samantha Salvi, Toghranegar, Jamie , MacDonald, Bob, Speights, Marisha, Noufi, Camille , Fagherrazi, Guy, Blatter, Alden, Arienzo, Arianna, Baur, Sebastien , Wetstone, Katie , Peller, Julian, Au, R., Botha, Hugo, Lahav, Amir, Hemmerling, Daria , Anibal, James, Coleman, Oita C, Gallois, Hortense , Martinez, Sophia Avila, Mahapatra, Nihar R. , Sara, Jaskanwal Deep Singh , Mathur, Aarush, Patel, Rupal , Zieliński, Konrad , Lerner-Ellis, Jordan, Cong, Yan , Ngo, Hoan, Talkar, Tanya , Hale, Greg, Comito, Keith, Ghosh, Satrajit, Watts, Stephanie, Powell, Maria, Bélisle-Pipon, Jean-Christophe, Krussel, Andrea, Mahapatra, Ishaan, Bahr, Ruth Huntley , Kostelnik, Cynthia, Dorsey, Katie, John, MyVan, Curp, Kathleen, Rameau, Anaïs, Bensoussan, Yaël , Singh Sara, Jaskanwal Deep, Hemmerling, Daria , Cruz, Samantha Salvi, Malin, Bradley , Mehra, Tarun , Speights, Marisha L., Fossat, Yan , Cummins, Nicholas , Elbeji, Abir , Gelbard, Alexander , Au, Rhoda , Botha, Hugo, Lahav, Amir, Catania, Fabio , Saha, Shumit , Kourtis, Lampros C , Lerner‐Ellis, Jordan P. , Watts, Stephanie, Bedrick, Steven , Belisle-Pipon, Jean-Christophe , Krussel, Andrea, Mahapatra, Ishaan , Hanna, Karim , Rameau, Anais
Frontiers in Digital Health | March 16, 2026 | Volume: 8 | Issue: No issue available | Pages: No page available
The 2025 Voice AI Symposium represented a transition from conceptual research to clinical implementation in vocal biomarker science. Hosted by the NIH-funded Bridge2AI-Voice consortium, the meeting convened global experts to address the methodological, ethical, and translational challenges of integrating voice-based artificial intelligence (AI) into healthcare. This mini-review synthesizes symposium insights across six domains: multimodal integration, FAIR (Findable, Accessible, Interoperable, Reusable) and CARE (Collective Benefit, Authority to Control, Responsibility, Ethics) data governance, clinical translation, interdisciplinary training, and cross-sector innovation. Research presented demonstrated voice as a latent, multimodal biomarker reflecting neurological, cardiopulmonary, and psychological states, while discussions emphasized ethical data practices and human-centered design. The implementation-focused panels underscored the importance of workflow alignment and usability for adoption in real-world care. Collectively, the symposium reflects a field advancing toward translational readiness and ethical accountability, positioning voice AI as a scalable, inclusive tool for next-generation healthcare.
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Blackburn, Patrick R. , Herkert, Johanna C. , Rinne, Tuula , Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia M. , Gérard, Bénédicte, Smol, Thomas , Vincent‐Delorme, Catherine , Isidor, Bertrand , Joset, Pascal , Husson, Thomas , Guerrot, Anne‐Marie , Bacino, Carlos A. , Macmurdo, Colleen, Thompson, Stephanie S., Faivre, Laurence , Deb, Wallid , Vignard, Virginie , Goldenberg, Alice, Lecoquierre, François , Zech, Michael , Necpál, Ján , Winkelmann, Juliane , Koprušáková, Monika Turčanová , Konstantopoulou, Vassiliki , Younce, John R. , Mighton, Chloe, Fung, Charlotte, Morel, Chantal F. , Barth, Magalie , Krapels, Ingrid P.C. , Schoot, Vyne van der , Bußmann, Cornelia, Wortmann, Saskia B. , Ravelli, Claudia , Keren, Boris , Ziegler, Alban , Hasadsri, Linda , Pichurin, Pavel N. , Klee, Eric W. , Grand, Katheryn , Sanchez‐Lara, Pedro A. , Krüger, Elke , Klinkhammer, Hannah , Tartaglia, Marco , Wang, Tianyun , Prokisch, Holger , Shinawi, Marwan , Brunet, Theresa , Tartaglia, Marco , Wang, Tianyun , Lecoquierre, Francois , Faivre, Laurence , Ebstein, Frédéric , Hsieh, Tzung‐Chien , Motta, Marialetizia , Radio, Francesca Clementina , Cogné, Benjamin , Vincent, Marie , Bachmann‐Gagescu, Ruxandra , Rauch, Anita , Ferrero, Giovanni Battista , Ciolfi, Andrea , Rosenfeld, Jill A. , Mau‐Them, Frédéric Tran , Agrawal, Pankaj B. , Madden, Jill A. , Goldenberg, Alice , Jech, Robert , Shinawi, Marwan , Lerner‐Ellis, Jordan P. , DiTroia, Stephanie P. , Bonneau, Dominique , Stegmann, Alexander P.A. , Mignot, Cyril , Zampino, Giuseppe , Mayr, Johannes A , Feichtinger, René G. , Courtin, Thomas , Bezieau, Stéphane , Krawitz, Peter Michael , Eichler, Evan E , Küry, Sébastien
Annals of Neurology | September 20, 2024 | Volume: 97 | Issue: 1 | Pages: 76-89
ObjectiveDe novo variants in cullin‐3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype–phenotype correlation, and investigate the underlying pathogenic mechanism.MethodsGenetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient‐derived T‐cells.ResultsWe assembled a cohort of 37 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 35 have loss‐of‐function (LoF) and 2 have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin‐protein conjugates in vitro. Notably, we show that 4E‐BP1 (EIF4EBP1), a prominent substrate of CUL3, fails to be targeted for proteasomal degradation in patient‐derived cells.InterpretationOur study further refines the clinical and mutational spectrum of CUL3‐associated NDDs, expands the spectrum of cullin RING E3 ligase‐associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2025;97:76–89