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]

  • Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Branco Fonseca T, Abramova T, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell-Sampol L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Otaify GA, Al-Thihli K, Al-Maawali A, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP and Krainc D.

    Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction

    JOURNAL OF CLINICAL INVESTIGATION . 136(11): . Nº de citas: 1

    [doi:10.1172/JCI195336]

  • 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: 6

    [doi:10.1097/ALN.0000000000006029]