Personas / Equipo Humano

Juan Darío Ortigoza Escobar

Buscador de publicaciones

Publicaciones

  • Awamleh, Z, Chen, A, Choufani, S, Rots, D, Ko, JM, Armour, CM, Nowaczyk, MJM, Hurst, ACE, Gibson, WT, Misceo, D, Frengen, E, Stromme, P, Soliani, L, McNiven, V, Alkhunaizi, E, Invernizzi, F, Fernandes, S, Sousa, S, Amoros, I, Scherer, SW, Kwint, M, Bienvenu, T, Garavaglia, BM, Ortigoza-Escobar JD and Weksberg, R.

    KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders

    GENETICS IN MEDICINE . 28(10): .

    [doi:10.1016/j.gim.2026.102636]

  • Chen A, Jain M, Baribeau D, Gibson WT, Deardorff MA, Alkuraya FS, Ortigoza-Escobar JD, Nimmo G, Scherer SW, Choufani S, Goodman SJ and Weksberg R.

    Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation

    EUROPEAN JOURNAL OF HUMAN GENETICS . : .

    [doi:10.1038/s41431-026-02199-3]

  • Bernardi K, Rong J, Northam WT, Kaminska M, Hasegawa H, Domínguez-Carral J, Vogt LM, Dijk JM, Beudel M, Chauvet-Piat E, Seng EC, Poulen G, Mahant N, Garone G, Pauni M, Rodríguez J, Munoz-Chesta D, Jones HF, De la Casa-Fages B, Miranda-Herrero MC, Jennions E, Lim WK, Zea Vera A, Mohammad S, Schuurman R, van de Pol LA, Roubertie A, Ibrahim GM, Gorodetsky C, Thiel M, Koy A, Ortigoza-Escobar JD, Lin JP, Lumsden DE, Ebrahimi-Fakhari D and Yang K.

    Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78310]

  • Cif L, Demailly D, Horvàth GA, Ortigoza-Escobar JD, Dorison N, Castro Jiménez M, Hubsch CA, Wirth T, Hariz GM, Huby S, Dornadic M, Souei Z, Mushhood Ur Rehman M, Hemm S, Boulaymen M, Moraud EM, Bloch J and Vasques X.

    Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70474]

  • Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Cokolic Petrovic D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA and Ortigoza-Escobar JD.

    Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

    ANNALS OF NEUROLOGY . 100(1): 154-170. Nº de citas: 1

    [doi:10.1002/ana.78213]

  • Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L and Ortigoza-Escobar JD.

    Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders

    NEUROMODULATION . 29(5): 824-832. Nº de citas: 2

    [doi:10.1016/j.neurom.2025.05.005]

  • Dini M, Maida E, Lavorgna L, Buizer A, Fanciulli A, Medijainen K, Nonnekes J, Ortigoza-Escobar JD, Salamon A, Timmann D, Vinciguerra C, Zádori D and Leocani L.

    Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review

    JOURNAL OF NEUROLOGY . 273(7): .

    [doi:10.1007/s00415-026-13911-0]

  • Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S and Weksberg R.

    A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

    AMERICAN JOURNAL OF HUMAN GENETICS . 113(6): 1233-1252.

    [doi:10.1016/j.ajhg.2026.04.010]

  • Sanz-Pons, J, Aladrén-Herrer, C, Ortigoza-Escobar JD, López-Gallardo, E, Martín-Navarro, A, Lanz-Martínez, CA, Camacho-Medina, YA, Fernández-González, I, Urbano, J, Montoya, J, Hernández-Castillo, Y, Bayona-Bafaluy, P and Ruiz-Pesini, E.

    Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity

    ANESTHESIOLOGY . 144(6): 1286-1298. Nº de citas: 5

    [doi:10.1097/ALN.0000000000006029]

  • Ramón-Gómez JL, de Felipe M, Balsells S, Martínez-Segura A, Ruiz C and Ortigoza-Escobar JD.

    Management of Movement Disorders in Chronic Neurological Conditions and Palliative Care: A Retrospective Cohort Study

    PEDIATRIC NEUROLOGY . 179: 54-62.

    [doi:10.1016/j.pediatrneurol.2026.03.006]