Fragile X Syndrome

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., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works

Fragile X syndrome

Garber, K. B., Visootsak, J., & Warren, S. T. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.61 · Cited by 477 · see citing works

Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors

Kaufmann, W. E., Cortell, R., Kau, A. S. M., Bukelis, I., Tierney, E., Gray, R. M., Cox, C., Capone, G. T., & Stanard, P. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30229 · Cited by 397 · see citing works

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

Clifford, S. M., Dissanayake, C., Bui, M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0205-z · Cited by 380 · see citing works

Altered anxiety‐related and social behaviors in the <i>Fmr1</i> knockout mouse model of fragile X syndrome

Spencer, C. M., Alekseyenko, O., Serysheva, E., Yuva‐Paylor, L. A., & Paylor, R. (2005) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2005.00123.x · Cited by 349 · see citing works

Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Berry‐Kravis, E., Abrams, L. J., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B. M., Jacquemont, S., et al. (2007) · Movement Disorders · doi:10.1002/mds.21493 · Cited by 331 · see citing works

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Dichter, G. S., Damiano, C. A., & Allen, J. A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-19 · Cited by 299 · see citing works

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice.

Frankland, P. W., Wang, Y., Rosner, B., Shimizu, T., Balleine, B. W., Dykens, E. M., Ornitz, E. M., & Silva, A. J. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001432 · Cited by 275 · see citing works

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

Dölen, G., & Bear, M. F. (2008) · The Journal of Physiology · doi:10.1113/jphysiol.2008.150722 · Cited by 278 · see citing works

Fragile X syndrome: Diagnostic and carrier testing

Sherman, S. L., Pletcher, B. A., & Driscoll, D. A. (2005) · Genetics in Medicine · doi:10.1097/01.gim.0000182468.22666.dd · Cited by 277 · see citing works

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Berry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aab4109 · Cited by 270 · see citing works

Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment

Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., et al. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159f · Cited by 268 · see citing works

Fragile X syndrome: a review of associated medical problems

Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., & Berry-Kravis, E. (2014) · Pediatrics · doi:10.1542/peds.2013-4301 · Cited by 255 · see citing works

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

Cox, D., & Butler, M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16024068 · Cited by 243 · see citing works

Open-label add-on treatment trial of minocycline in fragile X syndrome.

Paribello, C., Tao, L., Folino, A., Berry-Kravis, E., Tranfaglia, M., Ethell, I. M., & Ethell, D. W. (2010) · BMC Neurology · doi:10.1186/1471-2377-10-91 · Cited by 223 · see citing works

Language development and fragile X syndrome: Profiles, syndrome‐specificity, and within‐syndrome differences

Abbeduto, L., Brady, N. C., & Kover, S. T. (2007) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20142 · Cited by 218 · see citing works

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic‐like responses

Spencer, C. M., Alekseyenko, O. V., Hamilton, S. M., Thomas, A. M., Serysheva, E., Yuva‐Paylor, L. A., & Paylor, R. E. (2011) · Autism Research · doi:10.1002/aur.168 · Cited by 215 · see citing works

Experience effects on brain development: possible contributions to psychopathology

Grossman, A. W., Churchill, J. D., McKinney, B. C., Kodish, I. M., Otte, S. L., & Greenough, W. T. (2002) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.t01-1-00102 · Cited by 186 · see citing works

Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation

Hernandez, R. N., Feinberg, R. L., Vaurio, R., Passanante, N. M., Thompson, R. E., & Kaufmann, W. E. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32848 · Cited by 178 · see citing works

Fragile X–associated tremor/ataxia syndrome

Hagerman, P. J., & Hagerman, R. J. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12693 · Cited by 172 · see citing works

Altered Neocortical Rhythmic Activity States inFmr1KO Mice Are Due to Enhanced mGluR5 Signaling and Involve Changes in Excitatory Circuitry

Hays, S. A., Huber, K. M., & Gibson, J. R. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.3157-11.2011 · Cited by 167 · see citing works

Fragile X syndrome: a review of clinical and molecular diagnoses

Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017) · Italian Journal of Pediatrics · doi:10.1186/s13052-017-0355-y · Cited by 160 · see citing works

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

McConkie‐Rosell, A., Finucane, B. M., Cronister, A., Abrams, L. J., Bennett, R. L., & Pettersen, B. J. (2005) · Journal of Genetic Counseling · doi:10.1007/s10508-005-0002-3 · Cited by 161 · see citing works

Dendritic spine abnormalities in the occipital cortex of C57BL/6Fmr1 knockout mice

McKinney, B. C., Grossman, A. W., Elisseou, N. M., & Greenough, W. T. (2005) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30183 · Cited by 184 · see citing works

Lithium ameliorates phenotypic deficits in a mouse model of fragile X syndrome

Liu, Z., Chuang, D., & Smith, C. B. (2010) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145710000520 · Cited by 159 · see citing works

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Budimirovic, D. B., Berry‐Kravis, E., Erickson, C. A., Hall, S. S., Hessl, D. R., Reiss, A. L., King, M. K., Abbeduto, L., & Kaufmann, W. E. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9193-x · Cited by 157 · see citing works

Discourse Skills of Boys With Fragile X Syndrome in Comparison to Boys With Down Syndrome

Roberts, J. E., Martin, G. E., Moskowitz, L. J., Harris, A., Foreman, J., & Nelson, L. (2007) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2007/033 · Cited by 150 · see citing works

Autism, Alzheimer disease, and fragile X

Sokol, D. K., Maloney, B., Long, J. M., Ray, B., & Lahiri, D. K. (2011) · Neurology · doi:10.1212/wnl.0b013e3182166dc7 · Cited by 141 · see citing works

Therapeutic implications of the mGluR theory of fragile X mental retardation

Bear, M. F. (2005) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2005.00135.x · Cited by 137 · see citing works

Attention and language in fragile X

Cornish, K. M., Sudhalter, V., & Turk, J. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20003 · Cited by 136 · see citing works

Syntactic Complexity During Conversation of Boys With Fragile X Syndrome and Down Syndrome

Price, J. R., Roberts, J. E., Hennon, E. A., Berni, M. C., Anderson, K. L., & Sideris, J. H. (2008) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2008/001 · Cited by 135 · see citing works

Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome

Martin, G. E., Losh, M. C., Estigarribia, B., Sideris, J. H., & Roberts, J. E. (2013) · International Journal of Language & Communication Disorders · doi:10.1111/1460-6984.12019 · Cited by 133 · see citing works

Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome

Tucker, B., Richards, R. I., & Lardelli, M. T. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl422 · Cited by 133 · see citing works

Health Supervision for Children With Fragile X Syndrome

Hersh, J. H., & Saul, R. A. (2011) · PEDIATRICS · doi:10.1542/peds.2010-3500 · Cited by 122 · see citing works

Síndrome de X Frágil

Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala‐Zapata, S., & Hagerman, R. J. (2014) · Colombia medica · doi:10.25100/cm.v45i4.1810 · Cited by 122 · see citing works

Understanding of facial expressions of emotion by children with intellectual disabilities of differing aetiology

Wishart, J. G., Cebula, K. R., Willis, D. S., & Pitcairn, T. K. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00947.x · Cited by 122 · see citing works

The behavioral phenotype of FMR1 mutations

Boyle, L., & Kaufmann, W. E. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30277 · Cited by 118 · see citing works

Language comprehension in boys with fragile X syndrome and boys with Down syndrome

Price, J. R., Roberts, J. E., Vandergrift, N., & Martin, G. E. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00881.x · Cited by 116 · see citing works

Developmental Trajectories and Correlates of Sensory Processing in Young Boys with Fragile X Syndrome

Baranek, G. T., Roberts, J. E., David, F. J., Sideris, J. H., Mirrett, P., Hatton, D. D., & Bailey, D. B. (2008) · Physical & Occupational Therapy In Pediatrics · doi:10.1300/j006v28n01_06 · Cited by 113 · see citing works

Clinical and molecular implications of mosaicism in FMR1 full mutations

Pretto, D. I., Yrigollen, C. M., Tang, H.-T., Williamson, J., Espinal, G. M., Iwahashi, C. K., Durbin-Johnson, B. P., Hagerman, R. J., Hagerman, P. J., & Tassone, F. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00318 · Cited by 111 · see citing works

Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal

Budimirovic, D. B., Bukelis, I., Cox, C., Gray, R. M., Tierney, E., & Kaufmann, W. E. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31405 · Cited by 109 · see citing works

Fragile X-associated disorders: a clinical overview

Gallagher, A. T., & Hallahan, B. P. (2011) · Journal of Neurology · doi:10.1007/s00415-011-6161-3 · Cited by 108 · see citing works

Autism spectrum disorders: The quest for genetic syndromes

Zafeiriou, D., Ververi, A., Dafoulis, V., Kalyva, E., & Vargiami, E. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32152 · Cited by 104 · see citing works

A Comparison of Pragmatic Language in Boys With Autism and Fragile X Syndrome

Klusek, J., Martin, G. E., & Losh, M. C. (2014) · Journal of Speech Language and Hearing Research · doi:10.1044/2014_jslhr-l-13-0064 · Cited by 107 · see citing works

Social Approach and Autistic Behavior in Children with Fragile X Syndrome

Roberts, J. E., Weisenfeld, L. A. H., Hatton, D. D., Heath, M., & Kaufmann, W. E. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0305-9 · Cited by 107 · see citing works

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

Brady, N. C., Skinner, D., Roberts, J. E., & Hennon, E. A. (2006) · American Journal of Speech-Language Pathology · doi:10.1044/1058-0360(2006/033 · Cited by 105 · see citing works

Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder

Hessl, D. R., Tassone, F., Cordeiro, L., Koldewyn, K., McCormick, C. E. B., Green, C. C., Wegelin, J. A., Yuhas, J. M., & Hagerman, R. J. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-007-0365-5 · Cited by 105 · see citing works

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

Groß, C., Berry‐Kravis, E., & Bassell, G. J. (2011) · Neuropsychopharmacology · doi:10.1038/npp.2011.137 · Cited by 103 · see citing works

Fragile X syndrome: From protein function to therapy

Bagni, C., & Oostra, B. A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36241 · Cited by 104 · see citing works

PresynapticFmr1Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome

Hanson, J. E., & Madison, D. V. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.4717-06.2007 · Cited by 103 · see citing works

Phonological Accuracy and Intelligibility in Connected Speech of Boys With Fragile X Syndrome or Down Syndrome

Barnes, E., Roberts, J. E., Long, S. H., Martin, G. E., Berni, M. C., Mandulak, K. C., & Sideris, J. H. (2009) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2009/08-0001 · Cited by 105 · see citing works

A double‐blind, parallel, multicenter comparison of <scp>L</scp>‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

Torrioli, M. G., Vernacotola, S., Peruzzi, L., Tabolacci, E., Mila, M., Militerni, R., Musumeci, S., Ramos, F. J., Frontera, M., Sorge, G., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32268 · Cited by 100 · see citing works

Consistency between research and clinical diagnoses of autism among boys and girls with fragile <scp>X</scp> syndrome

Klusek, J., Martin, G. E., & Losh, M. (2014) · Journal of Intellectual Disability Research · doi:10.1111/jir.12121 · Cited by 99 · see citing works

Group I metabotropic glutamate receptor antagonists alter select behaviors in a mouse model for fragile X syndrome

Thomas, A. M., Bui, N., Perkins, J. R., Yuva‐Paylor, L. A., & Paylor, R. E. (2011) · Psychopharmacology · doi:10.1007/s00213-011-2375-4 · Cited by 99 · see citing works

Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice

Aloisi, E., Corf, K. L., Dupuis, J. P., Zhang, P., Ginger, M. R., Labrousse, V. F., Spatuzza, M., Haberl, M. G., Costa, L., Shigemoto, R., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01191-2 · Cited by 98 · see citing works

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders

The BEE-PRI Study Group, Marschik, P. B., Pokorny, F. B., Peharz, R., Zhang, D., O’Muircheartaigh, J., Roeyers, H., Bölte, S., Spittle, A. J., Urlesberger, B., et al. (2017) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-017-0748-8 · Cited by 96 · see citing works

Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

McDuffie, A. S., Thurman, A. J., Hagerman, R. J., & Abbeduto, L. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-013-2013-6 · Cited by 97 · see citing works

Rare FMR1 gene mutations causing fragile X syndrome: A review

Sitzmann, A. F., Hagelstrom, R. T., Tassone, F., Hagerman, R. J., & Butler, M. G. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38504 · Cited by 91 · see citing works

Autistic‐spectrum disorders in down syndrome: Further delineation and distinction from other behavioral abnormalities

Carter, J. C., Capone, G. T., Gray, R. M., Cox, C., & Kaufmann, W. E. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30407 · Cited by 91 · see citing works

FMR1 premutation and full mutation molecular mechanisms related to autism

Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85 · see citing works

Fragile X syndrome—From genes to cognition

Schneider, A., Hagerman, R. J., & Hessl, D. R. (2009) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.80 · Cited by 87 · see citing works

Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach

Cornish, K. M., Turk, J., Wilding, J. P. H., Sudhalter, V., Munir, F., Kooy, R. F., & Hagerman, R. J. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2004.t01-1-00297.x · Cited by 85 · see citing works

Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

Symons, F. J., Byiers, B. J., Raspa, M., Bishop, E. E., & Bailey, D. B. (2010) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-115.6.473 · Cited by 86 · see citing works

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

García‐Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., Marvin, E., Tassone, F., & Hagerman, R. J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32290 · Cited by 76 · see citing works

Modulation of actin dynamics by Rac1 to target cognitive function

Tejada‐Simon, M. V. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13100 · Cited by 76 · see citing works

Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

McConkie‐Rosell, A., Abrams, L. J., Finucane, B. M., Cronister, A., Gane, L. W., Coffey, S. M., Sherman, S. L., Nelson, L. M., Berry‐Kravis, E., Hessl, D. R., et al. (2007) · Journal of Genetic Counseling · doi:10.1007/s10897-007-9099-y · Cited by 76 · see citing works

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Finucane, B. M., Abrams, L. J., Cronister, A., Archibald, A. D., Bennett, R. L., & McConkie‐Rosell, A. (2012) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9524-8 · Cited by 73 · see citing works

Aging in fragile X syndrome

Utari, A., Adams, E., Berry‐Kravis, E., Chavez, A. D., Huang, F. S., Ngotran, L., Boyd, A., Hessl, D. R., Gane, L. W., Tassone, F., et al. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9047-2 · Cited by 73 · see citing works

Correlates of maternal behaviours in mothers of children with fragile X syndrome

Wheeler, A., Hatton, D. D., Reichardt, A., & Bailey, D. B. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00896.x · Cited by 73 · see citing works

Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?

Lang, S., Bartl-Pokorny, K. D., Pokorny, F. B., Garrido, D., Mani, N., Fox-Boyer, A. V., Zhang, D., & Marschik, P. B. (2019) · Current Developmental Disorders Reports · doi:10.1007/s40474-019-00166-w · Cited by 72 · see citing works

Early‐phase ERK activation as a biomarker for metabolic status in fragile X syndrome

Weng, N., Weiler, I. J., Sumis, A. M., Berry‐Kravis, E., & Greenough, W. T. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30765 · Cited by 72 · see citing works

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre‐mutation: FXTAS and beyond

Loesch, D. Z., Churchyard, A., Brotchie, P., Marot, M., & Tassone, F. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00425.x · Cited by 72 · see citing works

Characterising repetitive behaviours in young boys with fragile X syndrome

Oakes, A., Thurman, A. J., McDuffie, A. S., Bullard, L., Hagerman, R. J., & Abbeduto, L. (2015) · Journal of Intellectual Disability Research · doi:10.1111/jir.12234 · Cited by 71 · see citing works

Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome

Farzin, F., Huang, F. S., Hervey, C. M., Berry‐Kravis, E., & Hessl, D. R. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1176-2 · Cited by 69 · see citing works

Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome

Scerif, G., Longhi, E., Cole, V., Karmiloff‐Smith, A., & Cornish, K. (2012) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02515.x · Cited by 65 · see citing works

Unstable Mutations in the FMR1 Gene and the Phenotypes

Loesch, D. Z., & Hagerman, R. J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5434-2_6 · Cited by 68 · see citing works

Modeling Fragile X Syndrome in Drosophila

Drozd, M. M., Bardoni, B., & Capovilla, M. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00124 · Cited by 67 · see citing works

Effect of Sustained Maternal Responsivity on Later Vocabulary Development in Children With Fragile X Syndrome

Brady, N. C., Warren, S. F., Fleming, K., Keller, J. P., & Sterling, A. M. (2013) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2013/12-0341 · Cited by 64 · see citing works

Motor abilities of children diagnosed with fragile X syndrome with and without autism

Zingerevich, C., Hess, L. G., Chitwood, K. L., Harris, S. W., Hessl, D. R., Cook, K., & Hagerman, R. J. (2008) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2008.01107.x · Cited by 64 · see citing works

Expressive language in male adolescents with fragile X syndrome with and without comorbid autism

Kover, S. T., & Abbeduto, L. (2010) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2010.01255.x · Cited by 63 · see citing works

Age-dependent cognitive impairment in a Drosophila Fragile X model and its pharmacological rescue

Choi, C. H., McBride, S. M. J., Schoenfeld, B. P., Liebelt, D. A., Ferreiro, D., Ferrick, N. J., Hinchey, P., Kollaros, M., Ascunce, R. R., Terlizzi, A. M., et al. (2009) · Biogerontology · doi:10.1007/s10522-009-9259-6 · Cited by 62 · see citing works

Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links With Pragmatic Language

Klusek, J., Martin, G. E., & Losh, M. C. (2013) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944.7558-118.6.475 · Cited by 63 · see citing works

Public Health Literature Review of Fragile X Syndrome

Raspa, M., Wheeler, A., & Riley, C. M. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159c · Cited by 61 · see citing works

Size and methylation mosaicism in males with Fragile X syndrome

Jiraanont, P., Kumar, M., Tang, H.-T., Espinal, G. M., Hagerman, P. J., Hagerman, R. J., Chutabhakdikul, N., & Tassone, F. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1377612 · Cited by 62 · see citing works

Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome

Hartley, S. L., Seltzer, M. M., Hong, J., Greenberg, J. S., DaWalt, L. S., Almeida, D. M., Coe, C., & Abbeduto, L. (2011) · International Journal of Behavioral Development · doi:10.1177/0165025411406857 · Cited by 60 · see citing works

Chromosomal disorders associated with epilepsy

Battaglia, A., & Guerrini, R. (2005) · Epileptic Disorders · doi:10.1684/j.1950-6945.2005.tb00120.x · Cited by 60 · see citing works

Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis

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Dementia With Mood Symptoms in a Fragile X Premutation Carrier With the Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Intervention With Donepezil and Venlafaxine

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