Publications


  1. Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. PMID: 37759552 Free PMC article. Review.
  2. Aishworiya R, Tak YE, Ponzini MD, Biag HMB, Salcedo-Arellano MJ, Kim K, Tassone F, Schneider A, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Lippe S, Hagerman P, Hagerman R. Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity. Int J Dev Neurosci. 2023 Sep 19. doi: 10.1002/jdn.10299. Online ahead of print. PMID: 37724826
  3. Hessl D, Rojas KM, Ferrer E, Espinal G, Famula J, Schneider A, Hagerman R, Tassone F, Rivera SM. A Longitudinal Study of Executive Function in Daily Life in Male Fragile X Premutation Carriers and Association with FXTAS Conversion. medRxiv. 2023 Sep 2:2023.08.31.23294855. doi: 10.1101/2023.08.31.23294855. Preprint. PMID: 37693384 Free PMC article.
  4. Zafarullah M, Li J, Salemi MR, Phinney BS, Durbin-Johnson BP, Hagerman R, Hessl D, Rivera SM, Tassone F. Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS. Int J Mol Sci. 2023 Aug 30;24(17):13477. doi: 10.3390/ijms241713477.
  5. Salcedo-Arellano MJ, Johnson MD, McLennan YA, Hwang YH, Juarez P, McBride EL, Pantoja AP, Durbin-Johnson B, Tassone F, Hagerman RJ, Martínez-Cerdeño V. Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cells. 2023 Aug 23;12(17):2132. doi: 10.3390/cells12172132. PMID: 37681866 Free PMC article.
  6. Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge LE, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long JD, Fedler J, Klingner E, Ecklund DJ, Costigan M, Huff T, Pearson B. Effects of AFQ056 on language learning in fragile X syndrome. J Clin Invest. 2023 Aug 31:e171723. doi: 10.1172/JCI171723. Online ahead of print. PMID: 37651202 Free article.
  7. Aishworiya R, Biag HMB, Salcedo-Arellano MJ, Musa Z, Schneider A, Clark C, Santos E, Tassone F, Hagerman R. Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets. J Dev Behav Pediatr. 2023 Sep 1;44(7):e470-e475. doi: 10.1097/DBP.0000000000001204. Epub 2023 Aug 8. PMID: 37556593
  8. Aishworiya R, Chi MH, Zafarullah M, Mendoza G, Ponzini MD, Kim K, Biag HMB, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Jacquemont S, Lippé S, Hagerman P, Hagerman R, Schneider A, Tassone F. Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome. Cells. 2023 Jul 24;12(14):1920. doi: 10.3390/cells12141920.
  9. Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells. 2023 Jun 24;12(13):1711. doi: 10.3390/cells12131711. PMID: 37443745 Free PMC article.
  10. Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, Hagerman R, Tassone F. Clinical implications of somatic allele expansion in female FMR1 premutation carriers. Sci Rep. 2023 Apr 29;13(1):7050. doi: 10.1038/s41598-023-33528-x. PMID: 37120588
  11. Palumbo JM, Thomas BF, Budimirovic D, Siegel S, Tassone F, Hagerman R, Faulk C, O'Quinn S, Sebree T. J. Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment. Neurodev Disord. 2023 Jan 9;15(1):1. doi: 10.1186/s11689-023-09475-z. PMID: 36624400 Review.
  12. Zafarullah M, Li J, Tseng E, Tassone F. Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene. Mol Neurobiol. 2023 Jan 4. doi: 10.1007/s12035-022-03176-9. Online ahead of print. PMID: 36598648.
  13. Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R. Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers. Genes (Basel). 2022 Dec 17;13(12):2399. doi: 10.3390/genes13122399. PMID: 36553666 Free PMC article.
  14. Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 Nov 25;14(1):56. doi: 10.1186/s11689-022-09466-6. PMID: 36434514 Free PMC article. Clinical Trial.
  15. Hocking DR, Loesch DZ, Stimpson P, Tassone F, Atkinson A, Storey E. Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome. Brain Sci. 2022 Nov 15;12(11):1549. doi: 10.3390/brainsci12111549. PMID: 36421873
  16. Jasoliya M, Gu J, AlOlaby RR, Durbin-Johnson B, Chedin F, Tassone F. Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome. Genes (Basel). 2022 Oct 4;13(10):1795. doi: 10.3390/genes13101795. PMID: 36292679
  17. Varian BJ, Weber KT, Kim LJ, Chavarria T, Carrasco S, Muthupalani S, Zafarullah M, Poutahidis T, AlOlaby RR, Gardner BM, Solakyildirim K, Lebrilla C, Tassone F, Eric WJ, Alm WF, Erdman SE*. Maternal microbiota modulate a Fragile X-like syndrome in offspring mice. Genes (Basel). 2022 Jul 22.
  18. AlOlabi RR, Zafarullah M, Barboza M, Peng G, Varian BJ, Erdman SE, Lebrilla C, Tassone F. Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri. Genes (Basel). 2022 Jul 22;13(8):1300. doi: 10.3390/genes13081300.
  19. Tassanakijpanich N, Wright R, Tassone F, Shankar SP, Hagerman R. Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome. BMJ Case Rep. 2022 Jul 26;15(7):e247901. doi: 10.1136/bcr-2021-247901. PMID: 35882436.
  20. Hwang YH, Hayward BE, Zafarullah M, Kumar J, Durbin Johnson B, Holmans P, Usdin K, Tassone F. Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Sci Rep. 2022 Jun 21;12(1):10419. doi: 10.1038/s41598-022-14183-0. PMID: 35729184
  21. Jiraanont P, Manor E, Tabatadze N, Zafarullah M, Mendoza G, Melikishvili G, Tassone F. De Novo Large Deletion Leading to Fragile X Syndrome. Front Genet. 2022 May 11;13:884424. doi: 10.3389/fgene.2022.884424. PMID: 35646065; PMCID: PMC9130735.
  22. McLennan YA, Mosconi MW, McKenzie FJ, Famula J, Krawchuk B, Kim K, Clark CJ, Hessl D, Rivera SM, Simon TJ, Tassone F, Hagerman RJ. Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression. Mov Disord Clin Pract. 2022 Apr 28;9(4):473-478. doi: 10.1002/mdc3.13449. PMID: 35586536; PMCID: PMC9092736.
  23. Famula, J., Ferrer, E., Hagerman, R. J., Tassone, F., Schneider, A., Rivera, S. M., and Hessl, D. (2022). Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome. Journal of neurodevelopmental disorders, 14(1), 23.
  24. Johnson, D., Santos, E., Kim, K., Ponzini, M. D., McLennan, Y. A., Schneider, A., Tassone, F., and Hagerman, R. J. (2022). Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome. Frontiers in psychiatry, 12, 762915.
  25. Wang JY, Grigsby J, Placido D, Wei H, Tassone F, Kim K, Hessl D, Rivera SM, Hagerman RJ. Front Neurol. Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation. 2022 Feb 8;13:797649. doi: 10.3389/fneur.2022.797649. eCollection 2022. PMID: 35211082
  26. Hocking DR, Loesch DZ, Stimpson P, Tassone F, Atkinson A, Storey E. Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers. Front Psychiatry. 2021 Dec 3;12:742929. doi: 10.3389/fpsyt.2021.742929. eCollection 2021. PMID: 34925088
  27. Loesch DZ, Kemp BE, Bui MQ, Fisher PR, Allan CY, Sanislav O, Ngoei KRW, Atkinson A, Tassone F, Annesley SJ, Storey E. Cellular Bioenergetics and AMPK and TORC1 Signaling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers. Front Psychiatry. 2021 Nov 22;12:747268. doi: 10.3389/fpsyt.2021.747268. eCollection 2021. PMID: 34880790
  28. Proteau-Lemieux M, Knoth IS, Agbogba K, Côté V, Barlahan Biag HM, Thurman AJ, Martin CO, Bélanger AM, Rosenfelt C, Tassone F, Abbeduto LJ, Jacquemont S, Hagerman R, Bolduc F, Hessl D, Schneider A, Lippé S. EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome. Front Psychiatry. 2021 Nov 11;12:716707. doi: 10.3389/fpsyt.2021.716707. eCollection 2021. PMID: 34858220
  29. Roth M, Ronco L, Cadavid D, Durbin-Johnson B, Hagerman RJ, Tassone F. FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability. Diagnostics (Basel). 2021 Sep 28;11(10):1780. doi: 10.3390/diagnostics11101780. PMID: 34679478
  30. Salcedo-Arellano MJ, Wang JY, McLennan YA, Doan M, Cabal-Herrera AM, Jimenez S, Wolf-Ochoa MW, Sanchez D, Juarez P, Tassone F, Durbin-Johnson B, Hagerman RJ, Martínez-Cerdeño V. Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome. Mov Disord. 2021 Mar 24. doi: 10.1002/mds.28559. Online ahead of print. PMID: 33760253
  31. Zafarullah M, Durbin-Johnson B, Fourie ES, Hessl DR, Rivera SM, Tassone F. Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. Front Psychiatry. 2021 Aug 16;12:691717. doi: 10.3389/fpsyt.2021.691717. eCollection 2021. PMID: 34483988
  32. Tassanakijpanich N, McKenzie FJ, McLennan YA, Makhoul E, Tassone F, Jasoliya MJ, Romney C, Petrasic IC, Napalinga K, Buchanan CB, Hagerman P, Hagerman R, Casanova EL. Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. J Med Genet. 2021 Jun 30:jmedgenet-2020-107609. doi: 10.1136/jmedgenet-2020-107609. Online ahead of print. PMID: 34193467
  33. Storey E, Bui MQ, Stimpson P, Tassone F, Atkinson A, Loesch DZ. Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways. Cerebellum Ataxias. 2021 Jun 11;8(1):15. doi: 10.1186/s40673-021-00138-0. PMID: 34116720.
  34. Saldarriaga W, González-Teshima LY, Forero-Forero JV, Tang HT, Tassone F. Mosaicism in Fragile X syndrome: A family case series. J Intellect Disabil. 2021 May 17:1744629521995346. doi: 10.1177/1744629521995346.
  35. Berry-Kravis E, Zhou L, Jackson J, Tassone F. Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021 Mar 29:1-13. doi: 10.1080/14737159.2021.1899812. Online ahead of print. PMID: 33666525
  36. Loesch DZ, Tassone F, Atkinson A, Stimpson P, Trost N, Pountney DL, Storey E. Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement. Front Mol Biosci. 2021 Jan 12;7:577246. doi: 10.3389/fmolb.2020.577246. PMID: 33511153; PMCID: PMC7835843.
  37. Loesch DZ, Duffy DL, Martin NG, Tassone F, Atkinson A, Storey E. 'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers. Twin Res Hum Genet. 2021 Mar 24:1-8. doi: 10.1017/thg.2021.10. Online ahead of print. PMID: 33757613
  38. Saldarriaga-Gil W, Cabal-Herrera AM, Fandiño-Losada A, Vásquez A, Hagerman R, Tassone F. Inequities in diagnosis of Fragile X syndrome in Colombia. J Appl Res Intellect Disabil. 2021 Feb 4. doi: 10.1111/jar.12863. Online ahead of print. PMID: 33538083
  39. Gohel D, Sripada L, Prajapati P, Currim F, Roy M, Singh K, Shinde A, Mane M, Kotadia D, Tassone F, Charlet-Berguerand N, Singh R. Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS. Free Radic Biol Med. 2021 Jan 23:S0891-5849(21)00055-1. doi: 10.1016/j.freeradbiomed.2021.01.038. Epub ahead of print. PMID: 33497798.
  40. Schneider A, Summers S, Tassone F, Seritan A, Hessl D, Hagerman P, Hagerman R. Women with Fragile X-associated Tremor/Ataxia Syndrome. Mov Disord Clin Pract. 2020 Sep 23;7(8):910-919. doi: 10.1002/mdc3.13084. eCollection 2020 Nov. PMID: 33163562
  41. Zafarullah M, Jasoliya M, Tassone F. Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS). Cells. 2020 Oct 5;9(10):E2240. doi: 10.3390/cells9102240. PMID: 33027907
  42. Zafarullah M, Palczewski G, Rivera SM, Hessl DR, Tassone F. Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). FASEB J. 2020 Nov 1. doi: 10.1096/fj.202001880R. Online ahead of print. PMID: 33131090
  43. Wang JY, Danial M, Soleymanzadeh C, Kim B, Xia Y, Kim K, Tassone F, Hagerman RJ, Rivera SM. Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation. Sci Rep. 2020 Sep 29;10(1):16059. doi: 10.1038/s41598-020-73040-0. PMID: 32994518.
  44. Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. J Dev Behav Pediatr. 2020 Sep 15. PMID: 32947579
  45. Gohel D, Berguerand NC, Tassone F, Singh R. The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS. Biochim Biophys Acta Mol Basis Dis. 2020 Dec 1;1866(12):165918. doi: 10.1016/j.bbadis.2020.165918. Epub 2020 Aug 12. PMID: 32800941.
  46. Zafarullah M, Tang HT, Durbin-Johnson B, Fourie E, Hessl D, Rivera SM, Tassone F. FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS). Sci Rep. 2020 Jul 6;10(1):11099. doi: 10.1038/s41598-020-67946-y. PMID: 32632326
  47. Schneider A, Winarni TI, Cabal-Herrera AM, Bacalman S, Gane L, Hagerman P, Tassone F, Hagerman R. Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations. Transl Psychiatry. 2020 Jun 23;10(1):205. doi: 10.1038/s41398-020-00863-w. PMID: 32576818
  48. Jasoliya M, Bowling H, Petrasic IC, Durbin-Johnson B, Klann E, Bhattacharya A, Hagerman R, Tassone F. Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome. Brain Sci. 2020 Jun 10;10(6):361. doi: 10.3390/brainsci10060361. PMID: 32531912
  49. Salcedo-Arellano MJ, Wolf-Ochoa MW, Hong T, Amina S, Tassone F, Lechpammer M, Hagerman R, Martínez-Cerdeño V. Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome. Mov Disord Clin Pract. 2020 Apr 9;7(4):413-418. doi: 10.1002/mdc3.12942.
  50. AlOlaby RR, Jiraanont P, Durbin-Johnson B, Jasoliya M, Tang HT, Hagerman R, Tassone F. Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder. Front Genet. 2020 Apr 15;11:308. doi: 10.3389/fgene.2020.00308. eCollection 2020. PMID: 32346385
  51. Thurman AJ, Potter LA, Kim K, Tassone F, Banasik A, Potter SN, Bullard L, Nguyen V, McDuffie A, Hagerman R, Abbeduto L. Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. J Neurodev Disord. 2020 Apr 22;12(1):12. doi: 10.1186/s11689-020-09315-4. PMID: 32316911
  52. Aydin EY, Schneider A, Protic D, Wang JY, Martínez-Cerdeño V, Tassone F, Tang HT, Perlman S, Hagerman RJ. Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. Clin Interv Aging. 2020 Feb 26; 15:285-292. doi: 10.2147/CIA.S240314. eCollection 2020. PMID: 32161452
  53. Santos E, Emeka-Nwonovo C, Wang JY, Schneider A, Tassone F, Hagerman P, Hagerman R. Developmental aspects of FXAND in a man with the FMR1 premutation. Mol Genet Genomic Med. 2020 Jan 3:e1050. doi: 10.1002/mgg3.1050. PMID: 31899609
  54. Wang JY, Hessl D, Tassone F, Kim K, Hagerman RJ, Rivera SM. Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles. Neurobiol Aging. 2020 Feb;86:27-38. doi: 10.1016/j.neurobiolaging.2019.09.009. Epub 2019 Sep 24. PMID: 31733943; PMCID: PMC6995416.
  55. Potter LA, Scholze DA, Biag HMB, Schneider A, Chen Y, Nguyen DV, Rajaratnam A, Rivera SM, Dwyer PS, Tassone F, Al Olaby RR, Choudhary NS, Salcedo-Arellano MJ, Hagerman RJ. A Randomized Controlled Trial of Sertraline in Young Children with Autism Spectrum Disorder. Front Psychiatry. 2019 Nov 6; 10:810. doi: 10.3389/fpsyt.2019.00810. eCollection 2019. PMID: 31780970.
  56. Biag HMB, Potter LA, Wilkins V, Afzal S, Rosvall A, Salcedo-Arellano MJ, Rajaratnam A, Manzano-Nunez R, Schneider A, Tassone F, Rivera SM, Hagerman RJ. Metformin treatment in young children with fragile X syndrome. Mol Genet Genomic Med. 2019 Sep 14: e956. doi: 10.1002/mgg3.956. PMID: 31520524.
  57. Hocking DR, Loesch DZ, Trost N, Bui MQ, Hammersley E, Francis D, Tassone F, Storey E. Total and Regional White Matter Lesions are Correlated with Motor and Cognitive Impairments in Carriers of the FMR1 Premutation. Front Neurol. 2019 Aug 13;10:832. doi: 10.3389/fneur.2019.00832. eCollection 2019. PMID: 31456732
  58. Manor E, Gonen R, Sarussi B, Keidar-Friedman D, Kumar J, Tang HT, Tassone F. The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity. Mol Genet Genomic Med. 2019 Oct;7(10):e00946. doi: 10.1002/mgg3.946. Epub 2019 Aug 27. PMID: 31453660; PMCID: PMC6785435.
  59. Protic D, Aydin EY, Tassone F, Tan MM, Hagerman RJ, Schneider A. Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases. Mol Genet Genomic Med. 2019 Jul;7(7):e00745. doi: 10.1002/mgg3.745. Epub 2019 May 18. PMID: 31104364; PMCID: PMC6625129.
  60. Sachdeva A, Jain P, Gunasekaran V, Mahay SB, Mukherjee S, Hagerman R, Shankar S, Kapoor S, Kedia SN. Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India. Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee; Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee. Indian Pediatr. 2019 Mar 15;56(3):221-228.
  61. Tan MM, Dy JB, Salcedo-Arellano MJ, Tassone F, Hagerman RJ. Fragile X- associated Neuropsychiatric Disorders: A Case Report. Future Neurol. 2019 May;14(2):10.2217/fnl-2018-0040. doi: 10.2217/fnl-2018-0040. Epub 2019 May 24. PMID: 32089651; PMCID: PMC7034938.
  62. Napoli E, Schneider A, Wang JY, Trivedi A, Carrillo NR, Tassone F, Rogawski M, Hagerman RJ, Giulivi C. Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study. Mol Neurobiol. 2019 May;56(5):3702-3713. doi: 10.1007/s12035-018-1330-3. Epub 2018 Sep 5. PMID: 30187385; PMCID: PMC6401336.
  63. Zafarullah M, Tassone F. Molecular Biomarkers in Fragile X Syndrome. Brain Sci. 2019 Apr 27;9(5). pii: E96. doi: 10.3390/brainsci9050096. Review. PMID: 31035599
  64. Zhao X, Gazy I, Hayward B, Pintado E, Hwang YH, Tassone F, Usdin K. Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model. Brain Sci. 2019 Mar 1;9(3). pii: E52. doi: 10.3390/brainsci9030052. PMID: 30832215
  65. Gohel D, Sripada L, Prajapati P, Singh K, Roy M, Kotadia D, Tassone F, Charlet-Berguerand N, Singh R. FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. Biochim Biophys Acta Mol Basis Dis. 2019 Feb 13. PMID: 30771487.
  66. Saldarriaga W, Salcedo-Arellano MJ, Rodriguez-Guerrero T, Ríos M, Fandiño-Losada A, Ramirez-Cheyne J, Lein PJ, Tassone F, Hagerman RJ. Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia. Int J Dev Neurosci. 2019 Feb;72:1-5. doi: 10.1016/j.ijdevneu.2018.10.002. Epub 2018 Oct 29. PMID: 30385191; PMCID: PMC6354926.
  67. El-Deeb M, Adams P, Schneider A, Salcedo-Arellano MJ, Tassone F, Hagerman R. Fentanyl overdose in a female with the FMR1 premutation and FXTAS. J Mol Genet (Isleworth). 2018 Nov;1(1). pii: 101. doi: 10.31038/JMG.1000101. Epub 2018 Apr 1. PMID: 31032490
  68. Loesch DZ, Trost N, Bui MQ, Hammersley E, Lay ST, Annesley SJ, Sanislav O, Allan CY, Tassone F, Chen ZP, Ngoei KRW, Kemp BE, Francis D, Fisher PR, Storey E. The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers. Front Genet. 2018 Nov 12;9:531. doi: 10.3389/fgene.2018.00531. PMID: 30483310; PMCID: PMC6241173.
  69. Martínez Cerdeño V, Hong T, Amina S, Lechpammer M, Ariza J, Tassone F, Noctor SC, Hagerman P, Hagerman R. Microglial cell activation and senescence are characteristic of the pathology FXTAS. Mov Disord. 2018 Dec;33(12):1887-1894. doi: 10.1002/mds.27553. Epub 2018 Dec 10. PMID: 30537011.
  70. Wang HX, Yang JC, Soohoo R, Cotter D, Yuan M, Xia J, Yaqub S, Doty J, Niu YQ, Tassone F, Hagerman R, Zhang L, Olichney J. Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism. Front Genet. 2018 Sep 18; 9:327. doi: 10.3389/fgene.2018.00327. eCollection 2018. PMID: 30279697. PMCID: PMC6153313
  71. Napoli E, Schneider A, Hagerman R, Song G, Wong S, Tassone F, Giulivi C. Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins. Front Genet. 2018 Aug 27;9:338. doi: 10.3389/fgene.2018.00338. eCollection 2018. PMID: 30210529 PMCID: PMC6119880
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  141. Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F. Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR. BMC Med Genet. 2014;15(1):106. PMID: 25312060; PMCID: PMC4258952.
  142. Pretto D, Yrigollen CM, Tang HT, Williamson J, Espinal G, Iwahashi CK, Durbin-Johnson B, Hagerman RJ, Hagerman PJ, Tassone F. Clinical and molecular implications of mosaicism in FMR1 full mutations. Front Genet. 2014;5:318. PMID: 25278957; PMCID: PMC4166380.
  143. Brick DJ, Nethercott HE, Montesano S, Banuelos MG, Stover AE, Schutte SS, O'Dowd DK, Hagerman RJ, Ono M, Hessl DR, Tassone F, Schwartz PH. The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery. Stem Cells Transl Med. 2014; 3(11): 1275-86. PMID: 25273538; PMCID: PMC4622400
  144. Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Genomic studies in fragile X premutation carriers. J Neurodev Disord. 2014;6(1):27. PMID: 25170347; PMCID: PMC4147387.
  145. Tassone F, Hagerman PJ, Hagerman RJ. Fragile x premutation. J Neurodev Disord. 2014;6(1):22. PMID: 25170346; PMCID: PMC4147873.
  146. Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014;6(1):23. PMID: 25161746; PMCID: PMC4144988.
  147. Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014;6(1):24. PMID: 25110527; PMCID: PMC4126815.
  148. Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F. Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome. PLoS One. 2014;9(8):e103884. PMID: 25084529; PMCID: PMC4118991.
  149. Shapiro HM, Tassone F, Choudhary NS, Simon TJ. The development of cognitive control in children with chromosome 22q11.2 deletion syndrome. Front Psychol. 2014;5:566. PMID: 24959159; PMCID: PMC4050531.
  150. Careaga M, Noyon T, Basuta K, Van de Water J, Tassone F, Hagerman RJ, Ashwood P. Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome. J Neuroinflammation. 2014;11(1):110. PMID: 24942544; PMCID: PMC4107617.
  151. Tassone F. Methylation analysis in newborn screening for fragile x syndrome-reply. JAMA Neurol. 2014;71(6):800-1. PMID: 24911127.
  152. Lozano R, Summers S, Lozano C, Mu Y, Hessl D, Nguyen D, Tassone F, Hagerman R. Association between macroorchidism and intelligence in FMR1 premutation carriers. Am J Med Genet A. 2014;164(9):2206-11. PMID: 24903624; PMCID: PMC4332881
  153. Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Zhang M, Rivera SM, Simon TJ. Eye movements reveal impaired inhibitory control in adult male fragile x premutation carriers asymptomatic for FXTAS. Neuropsychology. 2014;28(4):571-84. PMID: 24773414; PMCID: PMC4172343
  154. Careaga M, Rose D, Tassone F, Berman RF, Hagerman R, Ashwood P. Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses. PLoS One. 2014;9(4):e94475. PMID: 24718368; PMCID: PMC3981824.
  155. Pretto DI, Mendoza-Morales G, Lo J, Cao R, Hadd A, Latham GJ, Durbin-Johnson B, Hagerman R, Tassone F. CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. J Med Genet. 2014;51(5):309-18. PMID: 24591415; PMCID: PMC4010431.
  156. Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L. Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): Revisited. Parkinsonism Relat Disord. 2014;20(4):456-9. PMID: 24491663; PMCID: PMC4019503
  157. Ludwig AL, Espinal GM, Pretto DI, Jamal AL, Arque G, Tassone F, Berman RF, Hagerman PJ. CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Hum Mol Genet. 2014;23(12):3228-38. PMID: 24463622; PMCID: PMC4030777
  158. Kim SY, Tassone F, Simon TJ, Rivera SM. Altered neural activity in the 'when' pathway during temporal processing in fragile X premutation carriers. Behav Brain Res. 2014;261:240-8. PMID: 24398265; PMCID: PMC4867552 133.
  159. Tassone F. Newborn Screening for Fragile X Syndrome. JAMA Neurol. 2014;71(3):355-9. PMID: 24395328; PMCID: PMC4004956
  160. Kim SY, Burris J, Bassal F, Koldewyn K, Chattarji S, Tassone F, Hessl D, Rivera SM. Fear-Specific Amygdala Function in Children and Adolescents on the Fragile X Spectrum: A Dosage Response of the FMR1 Gene. Cereb Cortex. 2014;3:600-13. PMID: 23146966; PMCID: PMC3920763.
  161. Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell JB, Cook KR, Leehey MA, Grigsby J, Olichney JM, Adams PE, Legg W, Zhang L, Hagerman PJ, Hagerman RJ. Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. J Clin Psychiatry. 2014 Mar;75(3):264-71. doi: 10.4088/JCP.13m08546. PMID: 24345444; PMCID: PMC4296896.
  162. Pretto DI, Kumar M, Cao Z, Cunningham CL, Durbin-Johnson B, Qi L, Berman R, Noctor SC, Hagerman RJ, Pessah IN, Tassone F. Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome. Neurobiol Aging. 2014;35(5):1189-97. PMID: 24332449; PMCID: PMC4062976.
  163. Santa María L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Mendoza-Morales G, Hagerman R, Tassone F. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet. 2014 Oct;86(4):378-82. doi: 10.1111/cge.12278. Epub 2013 Oct 13. PMID: 24028275; PMCID: PMC4004716.
  164. Kim SY, Hashimoto RI, Tassone F, Simon TJ, Rivera SM. Altered neural activity of magnitude estimation processing in adults with the fragile X premutation. J Psychiatr Res. 2013;47(12):1909-16. PMID: 24045061; PMCID: PMC3880247.
  165. Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S. Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population. BMJ Open. 2013;3(9):e003660. PMID: 24022395; PMCID: PMC3773647.
  166. Schneider A, Seritan A, Tassone F, Rivera SM, Hagerman R, Hessl D. Psychiatric features in high-functioning adult brothers with fragile x spectrum disorders. Prim Care Companion CNS Disord. 2013;15(2). PMID: 23930232; PMCID: PMC3733525.
  167. Dziembowska M, Pretto DI, Janusz A, Kaczmarek L, Leigh MJ, Gabriel N, Durbin-Johnson B, Hagerman RJ, Tassone F. High activity levels of MMP-9 in Fragile X syndrome are lowered by Minocycline. Am J Med Genet A. 2013;161(8):1897-903. PMID: 23824974.
  168. Basuta K, Lozano R, Schneider A, Yrigollen CM, Hessl D, Hagerman RJ, Tassone F. A family with two female compound heterozygous for the FMR1 premutation alleles. Clin Genet. 2014;85(5):458-63. PMID: 23786467; PMCID: PMC3996450
  169. Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM. Fragile X-Associated Tremor/Ataxia Syndrome: Influence of the FMR1 Gene on Motor Fiber Tracts in Males with Normal and Premutation Alleles. JAMA Neurol. 2013;70(8):1022-9. PMID: 23753897; PMCID: PMC4028037.
  170. Yrigollen CM, Mendoza-Morales G, Hagerman R, Tassone F. Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions. J Hum Genet. 2013;58(8):553-9. PMID: 23739124; PMCID: PMC4003888
  171. Pretto DI, Hunsaker MR, Cunningham CL, Greco CM, Hagerman RJ, Noctor SC, Hall DA, Hagerman PJ, Tassone F. Intranuclear inclusions in a fragile X mosaic male. Transl Neurodegener. 2013;2(1):10. PMID: 23692864; PMCID: PMC3668897.
  172. Yang JC, Simon C, Niu YQ, Bogost M, Schneider A, Tassone F, Seritan A, Grigsby J, Hagerman PJ, Hagerman RJ, Olichney JM. Phenotypes of hypofrontality in older female fragile x premutation carriers. Ann Neurol. 2013;74(2):275-83. PMID: 23686745; PMCID: PMC3906211.
  173. Leigh MJ, Nguyen DV, Mu Y, Winarni TI, Schneider A, Chechi T, Polussa J, Doucet P, Tassone F, Rivera SM, Hessl D, Hagerman RJ. A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome. J Dev Behav Pediatr. 2013; 34(3):147-55. PMID: 23572165; PMCID: PMC3706260
  174. Cao Z, Hulsizer S, Cui Y, Pretto DL, Kim KH, Hagerman PJ, Tassone F, Pessah IN. Enhanced Asynchronous Ca2+ Oscillations Associated with Impaired Glutamate Transport In Cortical Astrocytes Expressing Fmr1 Premutation Expansion. J Biol Chem. 2013;288(19):13831-41. PMID: 23553633; PMCID: PMC3650419.
  175. Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB. Global increases in both common and rare copy number load associated with autism. Hum Mol Genet. 2013;22(14):2870-80. PMID: 23535821; PMCID: PMC3690969.
  176. Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome. Cell Rep. 2013;3(3):869-80. PMID: 23478018; PMCID: PMC3639429.
  177. Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013;161(4):771-8. PMID: 23444167; PMCID: PMC4396070.
  178. Au J, Akins R, Berkowitz-Sutherland L, Tang HT, Chen Y, Boyd A, Tassone F, Nguyen D, Hagerman R. Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clin Genet. 2013;84(6):546-51. PMID: 23373759; PMCID: PMC4991825
  179. Sorensen PL, Gane LW, Yarborough M, Hagerman RJ, Tassone F. Newborn screening and cascade testing for FMR1 mutations. Am J Med Genet A. 2013;161A(1):59-69. PMID: 23239591; PMCID: PMC3980469
  180. Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012;4(12):100. PMID: 23259642; PMCID: PMC4064316.
  181. Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012;122(12):4314-22. PMID: 23202739; PMCID: PMC3533539.
  182. Loesch DZ, Tassone F, Lo J, Slater HR, Hills LV, Bui MQ, Silburn PA, Mellick GD. New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clin Genet. 2013 Oct;84(4):382-5. doi: 10.1111/cge.12070. Epub 2012 Dec 25. PMID: 23198693.
  183. Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ. Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene. Genome Res. 2013;23(1):121-8. PMID: 23064752; PMCID: PMC3530672
  184. Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. Fragile X- associated Tremor/Ataxia Syndrome (FXTAS) in Grey Zone Carriers. Clin Genet. 2013;84(1):74-7. PMID: 23009394; PMCID: PMC4991824.
  185. Yang JC, Chan SH, Khan S, Schneider A, Nanakul R, Teichholtz S, Niu YQ, Seritan A, Tassone F, Grigsby J, Hagerman PJ, Hagerman RJ, Olichney JM. Neural Substrates of Executive Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): a Brain Potential Study. Cereb Cortex. 2013;23(11):2657-66. PMID: 22918986; PMCID: PMC3792740.
  186. Tassone F, Choudhary NS, Tassone F, Durbin-Johnson B, Hansen R, Hertz-Picciotto I, Pessah I. Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study. J Autism Dev Disord. 2013;43(3):530-9. PMID: 22767137; PMCID: PMC4596818.
  187. Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X. Pediatrics. 2012;130(6):1126-35. PMID: 23129072.
  188. Wang JM, Koldewyn K, Hashimoto R, Schneider A, Le L, Tassone F, Cheung K, Hagerman P, Hessl D, Rivera SM. Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding. Front Hum Neurosci. 2012;6:297. PMID: 23115550; PMCID: PMC3483622.
  189. Schmidt RJ, Tancredi DJ, Ozonoff S, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tassone F, Hertz-Picciotto I. Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr. 2012;96(1):80-9. PMID: 22648721; PMCID: PMC3374734.
  190. Kaplan ES, Cao Z, Hulsizer S, Tassone F, Berman RF, Hagerman PJ, Pessah IN. Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 premutation mouse model. J Neurochem. 2012;123(4):613-21. PMID: 22924671; PMCID: PMC3564636.
  191. Wong LM, Goodrich-Hunsaker NJ, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed. J Neurodev Disord. 2012;4(1):26. PMID: 23148490; PMCID: PMC3506571.
  192. Vengoechea J, Parikh AS, Zhang S, Tassone F. De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. Eur J Hum Genet. 2012;20(11):1197-200. PMID: 22549406; PMCID: PMC3476717.
  193. Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, Nguyen DV, Faradz SM, Van de Water J, Cook K, Hamlin A, Mu Y, Hagerman PJ, Hagerman RJ. Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012;158A(10):2473-81. PMID: 22903889; PMCID: PMC4105154.
  194. Hamlin AA, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A. 2012;158A(6):1304-9. PMID: 22528549; PMCID: PMC3983689.
  195. Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012;14(8):729-36. PMID: 22498846; PMCID: PMC3990283.
  196. Wang JY, Hessl DH, Hagerman RJ, Tassone F, Rivera SM. Age-dependent structural connectivity effects in fragile x premutation. Arch Neurol. 2012;69(4):482-9. PMID: 22491193; PMCID: PMC3979438
  197. Jenkins EC, Tassone F, Ye L, Hoogeveen AT, Brown WT, Hagerman RJ, Hagerman PJ. Reduced telomere length in individuals with FMR1 premutations and full mutations. Am J Med Genet A. 2012;158A(5):1060-5. PMID: 22489017; PMCID: PMC3402180.
  198. Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F. A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male. Am J Med Genet A. 2012;158A(5):1221-4. PMID: 22488807; PMCID: PMC3331966.
  199. Cao Z, Hulsizer S, Tassone F, Tang HT, Hagerman RJ, Rogawski MA, Hagerman PJ, Pessah IN. Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet. 2012;21(13):2923-35. PMID: 22466801; PMCID: PMC3373240.
  200. Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ, Hagerman RJ. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav. 2012;11(5):577-85. PMID: 22463693; PMCID: PMC3965773
  201. Hoeffer CA, Sanchez E, Hagerman RJ, Mu Y, Nguyen DV, Wong H, Whelan AM, Zukin RS, Klann E, Tassone F. Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav. 2012;11(3):332-41. PMID: 22268788; PMCID: PMC3319643.
  202. Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord. 2012;27(2):296-300. PMID: 22161987; PMCID: PMC4286243.
  203. Tassone F, Hagerman R. The fragile X-associated tremor ataxia syndrome. Results Probl Cell Differ. 2012;4(12):100. PMID: 22009361.
  204. Chonchaiya W, Au J, Schneider A, Hessl D, Harris SW, Laird M, Mu Y, Tassone F, Nguyen DV, Hagerman RJ. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet. 2012;131(4):581-9. PMID: 22001913; PMCID: PMC4105134.
  205. Winarni TI, Utari A, Mundhofir FE, Tong T, Durbin-Johnson B, Faradz SM, Tassone F. Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening. Genet Test Mol Biomarkers. 2012;16(3):162-6. PMID: 21988366; PMCID: PMC3306584.
  206. Schneider A, Ballinger E, Chavez A, Tassone F, Hagerman RJ, Hessl D. Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Neurobiol Aging. 2012;33(6):1045-53. PMID: 20961665; PMCID: PMC3044775.
  207. Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet. 2012;82(1):88-92. PMID: 21476992.
  208. McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile x syndrome. Curr Genomics. 2011;12(3):216-24. PMID: 22043169; PMCID: PMC3137006.
  209. Hamlin A, Liu Y, Nguyen DV, Tassone F, Zhang L, Hagerman RJ. Sleep apnea in fragile X premutation carriers with and without FXTAS. Am J Med Genet B Neuropsychiatr Genet. 2011;156B(8):923-8. PMID: 21932336; PMCID: PMC4109408.
  210. Leehey MA, Legg W, Tassone F, Hagerman R. Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. Rheumatology (Oxford). 2011;50(12):2233-6. PMID: 21926154; PMCID: PMC3222847.
  211. Stoger R, Genereux DP, Hagerman RJ, Hagerman PJ, Tassone F, Laird CD. Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome. PLoS One. 2011;6(8):e23648. PMID: 21909353; PMCID: PMC3166088.
  212. Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F. The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One. 2011;6(7):e21728. PMID: 21818263; PMCID: PMC3139575.
  213. Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. Enhanced Manual and Oral Motor Reaction Time in Young Adult Female Fragile X Premutation Carriers. J Int Neuropsychol Soc. 2011;17(4):746-50. PMID: 21554789; PMCID: PMC3210929.
  214. Selmeczy D, Koldewyn K, Wang JM, Lee A, Harvey D, Hessl DR, Tassone F, Adams P, Hagerman RJ, Hagerman PJ, Rivera SM. Investigation of amygdala volume in men with the fragile X premutation. Brain Imaging Behav. 2011;5(4):285-94. PMID: 21786216; PMCID: PMC3982607
  215. Hunsaker MR, Greco CM, Tassone F, Berman RF, Willemsen R, Hagerman RJ, Hagerman PJ. Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. J Neuropathol Exp Neurol. 2011;70(6):462-9. PMID: 21572337; PMCID: PMC3109086.
  216. Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM. Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry. 2011;70(9):859-65. PMID: 21783174; PMCID: PMC3191264.
  217. Schmidt RJ, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I. Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology. 2011;22(4):476-85. PMID: 21610500; PMCID: PMC3116691.
  218. Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011;122(4):467-79. PMID: 21785977; PMCID: PMC3222079.
  219. Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011;26(10):1900-6. PMID: 21567456; PMCID: PMC3934001.
  220. Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ. Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task. Front Hum Neurosci. 2011;5:63. PMID: 21808616; PMCID: PMC3139190.
  221. Tassone F, Qi L, Zhang W, Hansen RL, Pessah IN, Hertz-Picciotto I. MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders. Autism Res. 2011;4(4):250-61. PMID: 21538940; PMCID: PMC3151322.
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  324. Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet. 2004;13(5):543-9. PMID: 14722156.
  325. Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet. 2003;12(9):949-59. PMID: 12700164.
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  329. Chen LS, Tassone F, Sahota P, Hagerman PJ. The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet. 2003;12(23):3067-74. PMID: 14519687.
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  342. Tassone F, Villard L, Clancy K, Gardiner K. Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes. Gene. 1999;226(2):211-23. PMID: 9931491.
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  347. Miller LJ, McIntosh DN, McGrath J, Shyu V, Lampe M, Taylor AK, Tassone F, Neitzel K, Stackhouse T, Hagerman RJ. Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet. 1999;83(4):268-79. PMID: 10208160.
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  1. 2019. Jasoliya M and Tassone F: Understanding Diagnostic Testing of Fragile X syndrome, new advances, cascade testing and screening. Fragile X Syndrome and Premutation Disorders: New Developments and Treatments: A Primer for Clinicians and Families.
  2. 2019. M. Zafarullah and F. Tassone. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Methods in Molecular Biology (Springer Nature)
  3. 2018. R. Olaby and F. Tassone. Fragile X syndrome. "Genetic Syndromes: A Comprehensive Reference Guide. Reference Module in Neuroscience and Biobehavioral Psychology/ Fragile X Syndrome (Springer)
  4. 2016. Tassone F. and Mila' M. Diagnosis of Fragile X syndrome (Elsevier).
  5. 2016. Editors: Deborah Hall and Flora Tassone. FXTAS, FXPOI and FMR1 associated disorders (2016) Springer.
  6. 2012. Tassone F. and Hagerman RJ: Fragile X associated tremor ataxia syndromes. Modeling Fragile X    Syndrome. Results Probl Cell Differ. 2012;54:337-57.
  7. 2009. Editors: Elizabeth Berry-Kravis and Flora Tassone. Fragile X associated tremor ataxia syndromes. (2010) Springer.
  8. 2005. Tassone F., Coffey S, and Hagerman RJ: New Developments in Fragile X. Associated Tremor/Ataxia Syndrome (FXTAS), Arrieta I, Penagarikano O, Mercedes T, (ed), Fragile Sites, Nova Science Publishers, Inc, 321-343.
  9. 2006. Tassone F. and Hagerman PJ: Molecular Correlates of Fragile X. Syndrome and FXTAS, Usdin K and Fry M, (ed), Human Nucleotide. Expansion Disorders, Vol. 19, Springer, Heidelberg. pp. 57-74.
  10. 1994. Gardiner, K, Xu H, Bonds W, Tassone F, Parimoo S, Sivakamasundari R, Hisama F, Rynditch A, Weissman S: Towards a transcriptional map of human chromosome 21, U. Hochgeschwender and K. Gardiner, (ed), Identification of Transcribed Sequences, Plenum Press, 37-49.