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Tyler Mark Pierson

Title(s)Assistant Professor-in-Residence, Pediatrics
SchoolMedicine
Address760 Westwood Plaza 12-311
Los Angeles CA 90024
Phone(310)423-4441
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    1. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. 2021 May 10. Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T, Genomics England Research Consortium, PREPARE network , Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. PMID: 33970200.
      View in: PubMed   Mentions:    Fields:    
    2. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Apr; 22(4):822. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 32047287.
      View in: PubMed   Mentions:    Fields:    
    3. Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465. Fu J, Korwutthikulrangsri M, Ramos-Platt L, Pierson TM, Liao XH, Refetoff S, Weiss RE, Dumitrescu AM. PMID: 31856685.
      View in: PubMed   Mentions:    Fields:    
    4. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 05; 22(5):878-888. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 31949314.
      View in: PubMed   Mentions:    Fields:    
    5. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):548-556. Pierson TM, Otero MG, Grand K, Choi A, Graham JM, Young JI, Mackay JP. PMID: 31737996.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    7. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genet Med. 2019 09; 21(9):2059-2069. Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. PMID: 30923367.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. Ann Clin Transl Neurol. 2019 01; 6(1):154-160. Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM. PMID: 30656193.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    9. FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. Ann Clin Transl Neurol. 2018 Sep; 5(9):1128-1133. Sahai SK, Steiner RE, Au MG, Graham JM, Salamon N, Ibba M, Pierson TM. PMID: 30250868.
      View in: PubMed   Mentions: 1     Fields:    
    10. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. 2017 04; 133(4):517-533. Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. PMID: 28012042.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    11. Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies. Neurol Genet. 2015 Dec; 1(4):e34. Shieh C, Moser F, Graham JM, Watiker V, Pierson TM. PMID: 27066571.
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    12. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord. 2015 Dec; 25(12):959-63. Gan JJ, Garcia V, Tian J, Tagliati M, Parisi JE, Chung JM, Lewis R, Baloh R, Levade T, Pierson TM. PMID: 26526000.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    13. Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules. Neurogenetics. 2015 Oct; 16(4):325-8. Pierson TM, Nezhad M, Tremblay MA, Lewis R, Wong D, Salamon N, Sicotte N. PMID: 26316201.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    14. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 02; 83(10):898-902. Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. PMID: 25085639.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    15. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. Hum Mol Genet. 2014 Nov 01; 23(21):5638-48. Zhu PP, Denton KR, Pierson TM, Li XJ, Blackstone C. PMID: 24908668.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    16. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 01; 1(6):379-389. Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. PMID: 24999486.
      View in: PubMed   Mentions: 27     Fields:    
    17. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol. 2014 Mar 01; 1(3):190-198. Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, , Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA. PMID: 24839611.
      View in: PubMed   Mentions: 54     Fields:    
    18. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun. 2014; 5:3251. Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. PMID: 24504326.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    19. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct; 34(10):1357-60. Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG, , Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. PMID: 23857908.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    20. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscul Disord. 2013 Jun; 23(6):483-8. Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. PMID: 23453856.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    21. Juvenile-onset motor neuron disease caused by novel mutations in ß-hexosaminidase. Mol Genet Metab. 2013 Jan; 108(1):65-9. Pierson TM, Torres PA, Zeng BJ, Glanzman AM, Adams D, Finkel RS, Mahuran DJ, Pastores GM, Tennekoon GI, Kolodny EH. PMID: 23158871.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    22. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 2012 Jul 10; 79(2):123-6. Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, NISC Comparative Sequencing Program , Boerkoel CF, Gahl WA, Tifft CJ. PMID: 22675082.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    23. Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat. 2012 Apr; 33(4):599-608. Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. PMID: 22290882.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    24. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet. 2012 Apr; 20(4):476-9. Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA, NISC Comparative Sequencing Program . PMID: 22146942.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    25. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct; 7(10):e1002325. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. PMID: 22022284.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansAnimalsCells
    26. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med. 2012 Jan; 14(1):51-9. Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. PMID: 22237431.
      View in: PubMed   Mentions: 103     Fields:    Translation:Humans
    27. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscul Disord. 2011 May; 21(5):353-5. Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W. PMID: 21353777.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    28. Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings. Mol Genet Metab. 2011 Feb; 102(2):207-9. Cable C, Finkel RS, Lehky TJ, Biassou NM, Wiggs EA, Bunin N, Pierson TM. PMID: 21035368.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    29. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 2008 Nov; 64(5):583-7. Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. PMID: 19067349.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans