Tyler Mark Pierson

Title(s)Associate Professor-in-Residence, Pediatrics
SchoolMedicine
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    1. Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. 2021 09 04; 144(8):e70. Wiessner M, Maroofian R, Ni MY, Pedroni A, M?ller 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 AT, 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, K?pper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman ?, Olgac Dundar N, Uyanik G, Sch?ls L, N?rnberg P, N?rnberg G, Catal?-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bou?anova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gl?ser D, H?ttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Z?chner S, Baets J, Synofzik M, Sch?le R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. PMID: 34480796; PMCID: PMC8418335.
      View in: PubMed   Mentions:    Fields:    
    2. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021 11; 185(11):3446-3458. Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Cinzia C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, DDD Study, Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM, Balasubramanian M. PMID: 34436830.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    3. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. 2021 06 22; 144(5):1422-1434. Wiessner M, Maroofian R, Ni MY, Pedroni A, M?ller 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, K?pper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman ?, D?ndar N, Uyanik G, Sch?ls L, N?rnberg P, N?rnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bou?anova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gl?ser D, H?ttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Z?chner S, Baets J, Synofzik M, Sch?le R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. PMID: 33970200; PMCID: PMC8219359.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    4. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Jul; 3(3):fcab075. Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, G?mez-Andr?s D, Reghan Foley A, Quijano-Roy S, B?nnemann CG, Bonne G. PMID: 34240052; PMCID: PMC8260964.
      View in: PubMed   Mentions: 2  
    5. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557. Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. PMID: 33381861.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    6. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome. Pediatr Neurol. 2020 11; 112:94-100. Lewis H, Samanta D, ?rsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fern?ndez-Ja?n A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. PMID: 32446642.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    7. 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, Undiagnosed Diseases Network, 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: 1     Fields:    
    8. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. Hengel H, Bosso-Lef?vre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot ?, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Sch?le R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Sch?ls L, Reversade B. PMID: 32001716; PMCID: PMC6992768.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    9. 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; PMCID: PMC7074892.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    10. 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, Undiagnosed Diseases Network, 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; PMCID: PMC7920571.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    11. 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: 8     Fields:    Translation:Humans
    12. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):557-564. Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. PMID: 31721432.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    13. Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy. Mol Brain. 2019 10 24; 12(1):86. Souza IA, Gandini MA, Zhang FX, Mitchell WG, Matsumoto J, Lerner J, Pierson TM, Zamponi GW. PMID: 31651342; PMCID: PMC6814130.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    14. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. 2019 09; 60(9):1881-1894. Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E. PMID: 31468518.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    15. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor � Signaling. Biol Psychiatry. 2020 01 15; 87(2):100-112. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gr?nborg S, Mercier S, K?ry S, B?zieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, D?sir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, L?pez-Ot?n C, Santiago-Fern?ndez O, Fern?ndez-Ja?n A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, P?rez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, G?cz J, Jolly LA. PMID: 31443933; PMCID: PMC6925349.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    16. 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; PMCID: PMC6661012.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    17. 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: 4     Fields:    Translation:Humans
    18. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. J Med Genet. 2019 08; 56(8):499-511. Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F. PMID: 30910913; PMCID: PMC6678042.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    19. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5. Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. PMID: 30449657; PMCID: PMC6436622.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    20. 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; PMCID: PMC6331954.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    21. 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; PMCID: PMC6144452.
      View in: PubMed   Mentions: 5     Fields:    
    22. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Hum Mol Genet. 2017 11 15; 26(22):4506-4518. Curiel J, Rodr?guez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A. PMID: 28973395; PMCID: PMC7462055.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    23. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. J Hum Genet. 2017 Jun; 62(6):589-597. Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, Tagliati M, Graham JM, Madan-Khetarpal S, Traynelis SF, Yuan H, Pierson TM. PMID: 28228639; PMCID: PMC5637523.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    24. 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: 35     Fields:    Translation:HumansCells
    25. 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; PMCID: PMC4811382.
      View in: PubMed   Mentions: 4  
    26. 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: 12     Fields:    Translation:Humans
    27. 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: 9     Fields:    Translation:Humans
    28. 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; PMCID: PMC4153852.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    29. 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; PMCID: PMC4189900.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    30. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 01; 1(6):379-389. Renvois? 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; PMCID: PMC4078876.
      View in: PubMed   Mentions: 55     Fields:    
    31. 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, PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA. PMID: 24839611; PMCID: PMC4019449.
      View in: PubMed   Mentions: 91     Fields:    
    32. 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; PMCID: PMC3934797.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    33. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct; 34(10):1357-60. Landour? G, Zhu PP, Louren?o CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangar? M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, D?rr A, Stevanin G, Biesecker LG, NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W, Z?chner S, Blackstone C, Fischbeck KH, Burnett BG. PMID: 23857908; PMCID: PMC3819934.
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    34. 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; PMCID: PMC3940074.
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    35. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain. 2013 Jan; 136(Pt 1):194-208. Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC. PMID: 23365097; PMCID: PMC3562077.
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    36. Juvenile-onset motor neuron disease caused by novel mutations in �-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; PMCID: PMC3601980.
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    37. 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; PMCID: PMC3390543.
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    38. Increased frequency of congenital heart defects in Menkes disease. Clin Dysmorphol. 2012 Apr; 21(2):59-63. Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG. PMID: 22134099; PMCID: PMC3385410.
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    39. 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; PMCID: PMC3959770.
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    40. VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Hum Mutat. 2012 Apr; 33(4):593-8. Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF. PMID: 22290570.
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    41. 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; PMCID: PMC3306865.
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    42. 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; PMCID: PMC3192828.
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    43. 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; PMCID: PMC4098846.
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    44. 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; PMCID: PMC3085694.
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    45. 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; PMCID: PMC3053057.
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    46. 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; PMCID: PMC2605197.
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    47. Inhibin A is an endocrine stimulator of bone mass and strength. Endocrinology. 2007 Apr; 148(4):1654-65. Perrien DS, Akel NS, Edwards PK, Carver AA, Bendre MS, Swain FL, Skinner RA, Hogue WR, Nicks KM, Pierson TM, Suva LJ, Gaddy D. PMID: 17194739.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansAnimalsCells
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