Publications by authors named "Tyler M Pierson"

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Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Tyler Mark Pierson

Ann Clin Transl Neurol· May 2025

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Tyler Mark Pierson

Am J Hum Genet· January 2025

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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Tyler Mark Pierson

Cell Mol Life Sci· March 2024

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Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Clemer Abad, Maria C Robayo, Maria Del Mar Muñiz-Moreno, Maria T Bernardi, Maria G Otero, Tyler Mark Pierson

Transl Psychiatry· January 2024

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Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia.
Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, Alex Rajewski, Fabian David Nonis, Tyler Mark Pierson

bioRxiv· January 2024

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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Ellen F Macnamara, Amelia Loydpierson, Yvonne L Latour, Precilla D'Souza, Jennifer Murphy, Tyler Mark Pierson

Mol Genet Metab· November 2023

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variants in in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Elizabeth A Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Tyler Mark Pierson

HGG Adv· July 2023

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A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Morié Ishida, María G Otero, Christina Freeman, Pedro A Sánchez-Lara, Carlos M Guardia, Tyler Mark Pierson

Hum Mol Genet· March 2023

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Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Lingling Xie, Miranda J McDaniel, Riley E Perszyk, Sukhan Kim, Gerarda Cappuccio, Tyler Mark Pierson

Cell Mol Life Sci· March 2023

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Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Schaida Schirwani, Emily Woods, David A Koolen, Charlotte W Ockeloen, Sally Ann Lynch, Tyler Mark Pierson

Am J Med Genet A· January 2023

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J Guillen Sacoto, Francisca Milan Zamora, Tyler Mark Pierson

Am J Med Genet A· November 2021

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Tyler Mark Pierson

Brain· September 2021

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International retrospective natural history study of -related congenital muscular dystrophy.
Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Tyler M Pierson

Brain Commun· July 2021

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Tyler Mark Pierson

Brain· June 2021

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, David T Miller, Kristina Cusmano-Ozog, Tyler Mark Pierson

Clin Genet· April 2021

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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, Katherine A Bosanko, Amy Rowell, Tyler M Pierson

Pediatr Neurol· November 2020

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Tyler Mark Pierson

Genet Med· May 2020

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Tyler Mark Pierson

Genet Med· April 2020

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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel Variants.
Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler M Pierson, Xiao Hui Liao

Thyroid· March 2020

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Brett V Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Tyler Mark Pierson

Biol Psychiatry· January 2020

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Tyler Mark Pierson

Nat Commun· January 2020

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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Philip J Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza-Meireles, Marta Bertoli, Tyler M Pierson

Am J Med Genet C Semin Med Genet· December 2019

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The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Tyler Mark Pierson, Maria G Otero, Katheryn Grand, Andrew Choi, John M Graham

Am J Med Genet C Semin Med Genet· December 2019

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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.
Ivana A Souza, Maria A Gandini, Fang-Xiong Zhang, Wendy G Mitchell, Joyce Matsumoto, Tyler Mark Pierson

Mol Brain· October 2019

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Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Xiao Jiang, Praveen K Raju, Nazzareno D'Avanzo, Mathieu Lachance, Julie Pepin, Tyler M Pierson

Epilepsia· September 2019

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