Tyler Mark Pierson
10PUBLICATIONS
32CO-AUTHORS
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Publications (10)
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|May 03, 2025
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.Maria Gabriela Otero, Christina Freeman, Ruchi Shah
|Feb 14, 2024
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia.Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha
|Nov 08, 2022
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.Morié Ishida, María G Otero, Christina Freeman
|Jul 09, 2021
International retrospective natural history study of LMNA-related congenital muscular dystrophy.Rabah Ben Yaou, Pomi Yun, Ivana Dabaj
|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni
|Feb 01, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Holger Hengel, Célia Bosso-Lefèvre, George Grady
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Frequent Collaborators
1 joint publications
Philip J Ostrowski
1 joint publications
Alison Foster
1 joint publications
Dragana Josifova
1 joint publications
Ivana Dabaj
1 joint publications
Hui Xiong
1 joint publications
Luisa Politano
1 joint publications
Gisèle Bonne
1 joint publications
Maria G Otero
1 joint publications
Holger Hengel
1 joint publications
Élise Lebigot
