• 18223 Citations
  • 74 h-Index
1977 …2020

Research output per year

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Research Output

2020

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

International 22q11.2 Brain and Behavior Consortium, Jan 2 2020, In : American Journal of Human Genetics. 106, 1, p. 26-40 15 p.

Research output: Contribution to journalArticle

2 Scopus citations

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome

Thurman, A. J., Potter, L. A., Kim, K., Tassone, F., Banasik, A., Potter, S. N., Bullard, L., Nguyen, V., McDuffie, A., Hagerman, R. & Abbeduto, L., Apr 22 2020, In : Journal of Neurodevelopmental Disorders. 12, 1, 12.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Developmental aspects of FXAND in a man with the FMR1 premutation

Santos, E., Emeka-Nwonovo, C., Wang, J. Y., Schneider, A., Tassone, F., Hagerman, P. & Hagerman, R., Feb 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 2, e1050.

Research output: Contribution to journalArticle

Open Access

Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations

Schneider, A., Winarni, T. I., Cabal-Herrera, A. M., Bacalman, S., Gane, L., Hagerman, P., Tassone, F. & Hagerman, R., Dec 1 2020, In : Translational psychiatry. 10, 1, 205.

Research output: Contribution to journalArticle

Open Access

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)

Zafarullah, M., Tang, H. T., Durbin-Johnson, B., Fourie, E., Hessl, D. R., Rivera, S. M. & Tassone, F., Dec 1 2020, In : Scientific reports. 10, 1, 11099.

Research output: Contribution to journalArticle

Open Access

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

International 22q11.2DS Brain and Behavior Consortium, Jan 1 2020, (Accepted/In press) In : Molecular Psychiatry.

Research output: Contribution to journalArticle

3 Scopus citations

Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder

Alolaby, R. R., Jiraanont, P., Durbin-Johnson, B., Jasoliya, M., Tang, H. T., Hagerman, R. & Tassone, F., Apr 15 2020, In : Frontiers in Genetics. 11, 308.

Research output: Contribution to journalArticle

Open Access

Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X–Associated Tremor/Ataxia Syndrome

Salcedo-Arellano, M. J., Wolf-Ochoa, M. W., Hong, T., Amina, S., Tassone, F., Lechpammer, M., Hagerman, R. & Martínez-Cerdeño, V., Jan 1 2020, (Accepted/In press) In : Movement Disorders Clinical Practice.

Research output: Contribution to journalArticle

Rapidly progressing neurocognitive disorder in a male with fxtas and alzheimer’s disease

Aydin, E. Y., Schneider, A., Protic, D., Wang, J. Y., Martínez-Cerdeño, V., Tassone, F., Tang, H. T., Perlman, S. & Hagerman, R. J., Jan 1 2020, In : Clinical Interventions in Aging. 15, p. 285-292 8 p.

Research output: Contribution to journalArticle

Open Access
2019

A Randomized Controlled Trial of Sertraline in Young Children With Autism Spectrum Disorder

Potter, L. A., Scholze, D. A., Biag, H. M. B., Schneider, A., Chen, Y., Nguyen, D. V., Rajaratnam, A., Rivera, S. M., Dwyer, P. S., Tassone, F., Al Olaby, R. R., Choudhary, N. S., Salcedo-Arellano, M. J. & Hagerman, R. J., Nov 6 2019, In : Frontiers in Psychiatry. 10, 810.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases

Protic, D., Aydin, E. Y., Tassone, F., Tan, M. M., Hagerman, R. J. & Schneider, A., Jul 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00745.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]

Gohel, D., Sripada, L., Prajapati, P., Singh, K., Roy, M., Kotadia, D., Tassone, F., Charlet-Berguerand, N. & Singh, R., Jan 1 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease.

Research output: Contribution to journalArticle

2 Scopus citations

Fragile X-Associated neuropsychiatric disorders: A case report

G Tan, M. M., S Dy, J. B., Salcedo-Arellano, M. J., Tassone, F. & Hagerman, R. J., Jan 1 2019, In : Future Neurology. 14, 2, FNL14.

Research output: Contribution to journalArticle

Open Access

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Zafarullah, M. & Tassone, F., Jan 1 2019, In : Methods in molecular biology (Clifton, N.J.). 1942, p. 173-189 17 p.

Research output: Contribution to journalArticle

Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia

Saldarriaga, W., Salcedo-Arellano, M. J., Rodriguez-Guerrero, T., Ríos, M., Fandiño-Losada, A., Ramirez-Cheyne, J., Lein, P. J., Tassone, F. & Hagerman, R. J., Feb 1 2019, In : International Journal of Developmental Neuroscience. 72, p. 1-5 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Metformin treatment in young children with fragile X syndrome

Biag, H. M. B., Potter, L. A., Wilkins, V., Afzal, S., Rosvall, A., Salcedo-Arellano, M. J., Rajaratnam, A., Manzano-Nunez, R., Schneider, A., Tassone, F., Rivera, S. M. & Hagerman, R. J., Nov 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 11, e956.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Molecular biomarkers in fragile x syndrome

Zafarullah, M. & Tassone, F., May 1 2019, In : Brain Sciences. 9, 5, 96.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Repeat instability in the fragile x-related disorders: Lessons from a mouse model

Zhao, X., Gazy, I., Hayward, B., Pintado, E., Hwang, Y. H., Tassone, F. & Usdin, K., Mar 1 2019, In : Brain Sciences. 9, 3, 52.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity

Manor, E., Gonen, R., Sarussi, B., Keidar-Friedman, D., Kumar, J., Tang, H. T. & Tassone, F., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e946.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Total and regional white matter lesions are correlated with motor and cognitive impairments in carriers of the FMR1 premutation

Hocking, D. R., Loesch, D. Z., Trost, N., Bui, M. Q., Hammersley, E., Francis, D., Tassone, F. & Storey, E., Jan 1 2019, In : Frontiers in Neurology. 10, JUL, 832.

Research output: Contribution to journalArticle

Open Access
2018

Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?

Shickman, R., Famula, J., Tassone, F., Leehey, M., Ferrer, E., Rivera, S. M. & Hessl, D. R., Apr 1 2018, In : Movement Disorders. 33, 4, p. 628-636 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

Jensen, M., Kooy, R. F., Simon, T. J., Reyniers, E., Girirajan, S. & Tassone, F., Apr 1 2018, In : European Journal of Medical Genetics. 61, 4, p. 209-212 4 p.

Research output: Contribution to journalArticle

4 Scopus citations
2 Scopus citations

Assessment of molecular measures in non-FXTAS male premutation carriers

Al Olaby, R. R., Tang, H. T., Durbin-Johnson, B., Schneider, A., Hessl, D. R., Rivera, S. M. & Tassone, F., Aug 22 2018, In : Frontiers in Genetics. 9, AUG, 302.

Research output: Contribution to journalArticle

1 Scopus citations

Autism phenotype in fragile X premutation males is not associated with FMR1 expression: A preliminary evaluation

Sumekar, T. A., Winarni, T. I., Mu, Y., Chonchaiya, W., Tassone, F., Iwahashi, C., Cheung, K., Faradz, S. M. H., Hagerman, P. J., Nguyen, D. V. & Hagerman, R. J., May 1 2018, In : Hiroshima Journal of Medical Sciences. 67, p. 166-173 8 p.

Research output: Contribution to journalArticle

Congnitive deficits and associated ERP N400 abnormalities in FXTAS with parkinsonism

Wang, X. H., Yang, J. C., Soohoo, R., Cotter, D., Yuan, M., Xia, J., Yaqub, S., Doty, J., Niu, Y. Q., Tassone, F., Hagerman, R. J., Zhang, L. & Olichney, J. M., Sep 18 2018, In : Frontiers in Genetics. 9, SEP, 327.

Research output: Contribution to journalArticle

Curvilinear association between language disfluency and FMR1 CGG repeat size across the normal, intermediate, and premutation range

Klusek, J., Porter, A., Abbeduto, L. J., Adayev, T., Tassone, F., Mailick, M. R., Glicksman, A., Tonnsen, B. L. & Roberts, J. E., Aug 24 2018, In : Frontiers in Genetics. 9, AUG, 344.

Research output: Contribution to journalArticle

2 Scopus citations

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries

Sun, J. H., Zhou, L., Emerson, D. J., Phyo, S. A., Titus, K. R., Gong, W., Gilgenast, T. G., Beagan, J. A., Davidson, B. L., Tassone, F. & Phillips-Cremins, J. E., Sep 20 2018, In : Cell. 175, 1, p. 224-238.e15

Research output: Contribution to journalArticle

37 Scopus citations

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

Loesch, D. Z., Tassone, F., Mellick, G. D., Horne, M., Rubio, J. P., Bui, M. Q., Francis, D. & Storey, E., Jul 1 2018, In : Movement Disorders. 33, 7, p. 1178-1181 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

Genetic cluster of fragile X syndrome in a Colombian district

Saldarriaga, W., Forero-Forero, J. V., González-Teshima, L. Y., Fandiño-Losada, A., Isaza, C., Tovar-Cuevas, J. R., Silva, M., Choudhary, N. S., Tang, H. T., Aguilar-Gaxiola, S., Hagerman, R. J. & Tassone, F., Jan 29 2018, (Accepted/In press) In : Journal of Human Genetics. p. 1-8 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Impact of FMR1 premutation on neurobehavior and bioenergetics in young monozygotic twins

Napoli, E., Schneider, A., Hagerman, R. J., Song, G., Wong, S., Tassone, F. & Giulivi, C. R., Aug 27 2018, In : Frontiers in Genetics. 9, AUG, 338.

Research output: Contribution to journalArticle

2 Scopus citations

Microglial cell activation and senescence are characteristic of the pathology FXTAS

Martinez-Cerdeno, V., Hong, T., Amina, S., Lechpammer, M., Ariza, J., Tassone, F., Noctor, S. C., Hagerman, P. J. & Hagerman, R. J., Dec 1 2018, In : Movement Disorders. 33, 12, p. 1887-1894 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Middle cerebellar peduncle width-A novel MRI biomarker for FXTAS?

Shelton, A. L., Wang, J. Y., Fourie, E., Tassone, F., Chen, A., Frizzi, L., Hagerman, R. J., Ferrer, E., Hessl, D. R. & Rivera, S. M., Jun 25 2018, In : Frontiers in Neuroscience. 12, JUN, 379.

Research output: Contribution to journalArticle

4 Scopus citations

Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia

Famula, J. L., McKenzie, F., McLennan, Y. A., Grigsby, J., Tassone, F., Hessl, D. R., Rivera, S. M., Martinez-Cerdeno, V. & Hagerman, R. J., Aug 22 2018, In : Frontiers in Neurology. 9, AUG, 695.

Research output: Contribution to journalArticle

5 Scopus citations

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Jacquemont, S., Pacini, L., Jønch, A. E., Cencelli, G., Rozenberg, I., He, Y., D'Andrea, L., Pedini, G., Eldeeb, M., Willemsen, R., Gasparini, F., Tassone, F., Hagerman, R. J., Gomez-Mancilla, B. & Bagni, C., Nov 1 2018, In : Human Molecular Genetics. 27, 21, 1 p.

Research output: Contribution to journalArticle

4 Scopus citations

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Jacquemont, S., Pacini, L., Jønch, A. E., Cencelli, G., Rozenberg, I., He, Y., D'Andrea, L., Pedini, G., Eldeeb, M., Willemsen, R., Gasparini, F., Tassone, F., Hagerman, R. J., Gomez-Mancilla, B. & Bagni, C., Jun 15 2018, In : Human Molecular Genetics. 27, 12, p. 2039-2051 13 p.

Research output: Contribution to journalArticle

11 Scopus citations

Rare FMR1 gene mutations causing fragile X syndrome: A review

Sitzmann, A. F., Hagelstrom, R. T., Tassone, F., Hagerman, R. J. & Butler, M. G., Jan 1 2018, In : American Journal of Medical Genetics, Part A. 176, 1, p. 11-18 8 p.

Research output: Contribution to journalArticle

13 Scopus citations

Sindrome X frágil en una Familia Colombiana

Translated title of the contribution: Fragile x syndrome in a Colombian familySaldarriaga-Gil, W., Hagerman, R. J., Salcedo, M. J., Tassone, F., Ramirez-Cheyne, J. & Silva, M., Jan 1 2018, In : Iatreia. 31, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

the International 22q11.2 Brain and Behavior Consortium, Oct 1 2018, In : American Journal of Medical Genetics, Part A. 176, 10, p. 2172-2181 10 p.

Research output: Contribution to journalArticle

1 Scopus citations
2017

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation

Wang, J. Y., Hessl, D. R., Hagerman, R. J., Simon, T. J., Tassone, F., Ferrer, E. & Rivera, S. M., Jul 1 2017, In : Neurobiology of Aging. 55, p. 11-19 9 p.

Research output: Contribution to journalArticle

18 Scopus citations

Altered expression of the FMR1 splicing variants landscape in premutation carriers

Tseng, E., Tang, H. T., AlOlaby, R. R., Hickey, L. & Tassone, F., Nov 1 2017, In : Biochimica et Biophysica Acta - Gene Regulatory Mechanisms. 1860, 11, p. 1117-1126 10 p.

Research output: Contribution to journalArticle

13 Scopus citations

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

Ligsay, A., Van Dijck, A., Nguyen, D. V., Lozano, R., Chen, Y., Bickel, E. S., Hessl, D. R., Schneider, A., Angkustsiri, K., Tassone, F., Ceulemans, B., Kooy, R. F. & Hagerman, R. J., Aug 2 2017, In : Journal of Neurodevelopmental Disorders. 9, 1, 26.

Research output: Contribution to journalArticle

19 Scopus citations

Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion

Burris, J. L., Barry-Anwar, R. A., Sims, R. N., Hagerman, R. J., Tassone, F. & Rivera, S. M., 2017, (Accepted/In press) In : Biological Psychiatry: Cognitive Neuroscience and Neuroimaging.

Research output: Contribution to journalArticle

6 Scopus citations

Clinical and molecular correlates in fragile X premutation females

Jiraanont, P., Sweha, S. R., AlOlaby, R. R., Silva, M., Tang, H. T., Durbin-Johnson, B., Schneider, A., Espinal, G. M., Hagerman, P. J., Rivera, S. M., Hessl, D. R., Hagerman, R. J., Chutabhakdikul, N. & Tassone, F., Jun 1 2017, In : eNeurologicalSci. 7, p. 49-56 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: Report of two cases

Lechpammer, M., Cerdeno, V. M., Hunsaker, R., Hah, M., Gonzales, H., Tisch, S., Joffe, R., Pamphlett, R., Tassone, F., Hagerman, P. J., Bolitho, S. J. & Hagerman, R. J., Aug 1 2017, In : Croatian Medical Journal. 58, 4, p. 310-315 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Fragile X newborn screening: Lessons learned from a multisite screening study

Bailey, D. B., Berry-Kravis, E., Gane, L. W., Guarda, S., Hagerman, R. J., Powell, C. M., Tassone, F. & Wheeler, A., Jun 1 2017, In : Pediatrics. 139, p. S216-S225

Research output: Contribution to journalArticle

12 Scopus citations

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L. & Hagerman, P. J., Sep 29 2017, In : Nature reviews. Disease primers. 3, 1 p.

Research output: Contribution to journalReview article

98 Scopus citations

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium, Oct 1 2017, In : Circulation: Cardiovascular Genetics. 10, 5, e001690.

Research output: Contribution to journalArticle

10 Scopus citations