| The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in Medicine 14 (1), 51-59, 2012 | 326 | 2012 |
| GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine TM Pierson, H Yuan, ED Marsh, K Fuentes‐Fajardo, DR Adams, ... Annals of clinical and translational neurology 1 (3), 190-198, 2014 | 293 | 2014 |
| Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases TM Pierson, D Adams, F Bonn, P Martinelli, PF Cherukuri, JK Teer, ... PLoS genetics 7 (10), e1002325, 2011 | 227 | 2011 |
| Inhibin A is an endocrine stimulator of bone mass and strength DS Perrien, NS Akel, PK Edwards, AA Carver, MS Bendre, FL Swain, ... Endocrinology 148 (4), 1654-1665, 2007 | 157 | 2007 |
| Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy H Yuan, KB Hansen, J Zhang, T Mark Pierson, TC Markello, KVF Fajardo, ... Nature communications 5 (1), 1-12, 2014 | 156 | 2014 |
| Positive and negative regulation of gene expression in eukaryotic cells with an inducible transcriptional regulator Y Wang, J Xu, T Pierson, BW O'malley, SY Tsai Gene therapy 4 (5), 432-441, 1997 | 153 | 1997 |
| Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11 B Renvoisé, J Chang, R Singh, S Yonekawa, EJ FitzGibbon, A Mankodi, ... Annals of clinical and translational neurology 1 (6), 379-389, 2014 | 120 | 2014 |
| Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ... Acta neuropathologica 133, 517-533, 2017 | 118 | 2017 |
| Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 105 | 2013 |
| GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function W Chen, C Shieh, SA Swanger, A Tankovic, M Au, M McGuire, M Tagliati, ... Journal of human genetics 62 (6), 589-597, 2017 | 101 | 2017 |
| Regulable Expression of Inhibin A in Wild-Type and Inhibinα Null Mice TM Pierson, Y Wang, FJ DeMayo, MM Matzuk, SY Tsai, BW O’Malley Molecular Endocrinology 14 (7), 1075-1085, 2000 | 99 | 2000 |
| Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox … X Jiang, PK Raju, N D'Avanzo, M Lachance, J Pepin, F Dubeau, ... Epilepsia 60 (9), 1881-1894, 2019 | 86 | 2019 |
| TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes J Curiel, G Rodríguez Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, ... Human molecular genetics 26 (22), 4506-4518, 2017 | 70 | 2017 |
| Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A PP Zhu, KR Denton, TM Pierson, XJ Li, C Blackstone Human molecular genetics 23 (21), 5638-5648, 2014 | 68 | 2014 |
| SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals BG Ng, P Sosicka, S Agadi, M Almannai, CA Bacino, R Barone, LD Botto, ... Human mutation 40 (7), 908-925, 2019 | 67 | 2019 |
| TUBB4A de novo mutations cause isolated hypomyelination A Pizzino, TM Pierson, Y Guo, G Helman, S Fortini, K Guerrero, S Saitta, ... Neurology 83 (10), 898-902, 2014 | 66 | 2014 |
| Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration TM Pierson, DR Simeonov, M Sincan, DA Adams, T Markello, G Golas, ... European journal of human genetics 20 (4), 476-479, 2012 | 65 | 2012 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 57 | 2020 |
| Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration MB Totonchy, D Tamura, MS Pantell, C Zalewski, PT Bradford, ... Brain 136 (1), 194-208, 2013 | 57 | 2013 |
| The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients PJ Ostrowski, A Zachariou, C Loveday, A Beleza‐Meireles, M Bertoli, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 52 | 2019 |
