Ignacio J Keller Sarmiento

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 12

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Top Venues

medRxiv : the preprint server for health sciences

Movement disorders : official journal of the Movement Disorder Society

NPJ Parkinson's disease

This page only lists publications with an associated author ORCID identifier.

Publications

Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)
Lara M Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore Raj Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew B Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, null null
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2). NPJ Parkinson's disease 9 (1) (2023)