Walter Kaufmann, MD - Publications

Affiliations: 
Pathology Johns Hopkins University, Baltimore, MD 
Area:
neurobiologic basis of mental retardation
Website:
http://pds17.pathology.jhmi.edu/N/n.web?EP=N&URL=/MCGI/SEND^WEBUTLTY(1058)/1543522402

132 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE. Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. Neurology. PMID 31053667 DOI: 10.1212/WNL.0000000000007560  0.36
2019 Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, et al. Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome. Clinical Genetics. PMID 30788845 DOI: 10.1111/cge.13521  0.36
2018 Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, et al. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30536762 DOI: 10.1002/ajmg.b.32707  0.36
2017 Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE. Updated report on tools to measure outcomes of clinical trials in fragile X syndrome. Journal of Neurodevelopmental Disorders. 9: 14. PMID 28616097 DOI: 10.1186/s11689-017-9193-x  0.96
2016 Chang L, Douet V, Bloss C, Lee K, Pritchett A, Jernigan TL, Akshoomoff N, Murray SS, Frazier J, Kennedy DN, Amaral DG, Gruen J, Kaufmann WE, Casey BJ, Sowell E, et al. Gray matter maturation and cognition in children with different APOE ε genotypes. Neurology. PMID 27412137 DOI: 10.1212/WNL.0000000000002939  1
2016 Killian JT, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatric Neurology. PMID 26995066 DOI: 10.1016/j.pediatrneurol.2015.12.021  1
2015 Barnes KV, Coughlin FR, O'Leary HM, Bruck N, Bazin GA, Beinecke EB, Walco AC, Cantwell NG, Kaufmann WE. Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales. Journal of Neurodevelopmental Disorders. 7: 30. PMID 26379794 DOI: 10.1186/s11689-015-9127-4  1
2015 LeBlanc JJ, DeGregorio G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, Fagiolini M, Nelson CA. Visual evoked potentials detect cortical processing deficits in Rett syndrome. Annals of Neurology. PMID 26332183 DOI: 10.1002/ana.24513  1
2015 Olischar M, Stavroudis T, Karp JK, Kaufmann WE, Theda C. Medical and ethical challenges in the case of a prenatally undiagnosed massive congenital brain tumor. Journal of Perinatology : Official Journal of the California Perinatal Association. 35: 773-5. PMID 26310316 DOI: 10.1038/jp.2015.80  1
2015 Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet Journal of Rare Diseases. 10: 105. PMID 26306707 DOI: 10.1186/s13023-015-0323-9  1
2015 Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatric Neurology. PMID 26278631 DOI: 10.1016/j.pediatrneurol.2015.06.003  1
2015 Newman E, Thompson WK, Bartsch H, Hagler DJ, Chen CH, Brown TT, Kuperman JM, McCabe C, Chung Y, Libiger O, Akshoomoff N, Bloss CS, Casey BJ, Chang L, Ernst TM, ... ... Kaufmann WE, et al. Anxiety is related to indices of cortical maturation in typically developing children and adolescents. Brain Structure & Function. PMID 26183468 DOI: 10.1007/s00429-015-1085-9  1
2015 O'Driscoll CM, Lima MP, Kaufmann WE, Bressler JP. Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-κB signaling in myeloid derived cells. Journal of Neuroimmunology. 283: 23-9. PMID 26004152 DOI: 10.1016/j.jneuroim.2015.04.005  1
2015 Eicher JD, Montgomery AM, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, Kenet T, et al. Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children. Brain Imaging and Behavior. PMID 25953057 DOI: 10.1007/s11682-015-9392-6  1
2015 Jernigan TL, Brown TT, Hagler DJ, Akshoomoff N, Bartsch H, Newman E, Thompson WK, Bloss CS, Murray SS, Schork N, Kennedy DN, Kuperman JM, McCabe C, Chung Y, Libiger O, ... ... Kaufmann WE, et al. The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository. Neuroimage. PMID 25937488 DOI: 10.1016/j.neuroimage.2015.04.057  1
2015 Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American Journal of Medical Genetics. Part A. PMID 25914188 DOI: 10.1002/ajmg.a.37132  1
2015 Noble KG, Houston SM, Brito NH, Bartsch H, Kan E, Kuperman JM, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Murray SS, Casey BJ, Chang L, Ernst TM, ... ... Kaufmann WE, et al. Family income, parental education and brain structure in children and adolescents. Nature Neuroscience. 18: 773-8. PMID 25821911 DOI: 10.1038/nn.3983  1
2015 Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, et al. Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatric Neurology. 52: 585-91.e2. PMID 25801175 DOI: 10.1016/j.pediatrneurol.2015.02.007  1
2015 Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL. Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Disease Models & Mechanisms. 8: 363-71. PMID 25713300 DOI: 10.1242/dmm.020131  1
2015 Logue DD, Logue RT, Kaufmann WE, Belcher HM. Psychiatric disorders and left-handedness in children living in an urban environment. Laterality. 20: 249-56. PMID 25280263 DOI: 10.1080/1357650X.2014.961927  1
2014 Marschik PB, Kaufmann WE, Bölte S, Sigafoos J, Einspieler C. En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome. The Behavioral and Brain Sciences. 37: 562-3; discussion 57. PMID 25514952 DOI: 10.1017/S0140525X1300410X  1
2014 Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK. Pubertal development in Rett syndrome deviates from typical females. Pediatric Neurology. 51: 769-75. PMID 25283752 DOI: 10.1016/j.pediatrneurol.2014.08.013  1
2014 Papazoglou A, Jacobson LA, McCabe M, Kaufmann W, Zabel TA. To ID or not to ID? Changes in classification rates of intellectual disability using DSM-5. Intellectual and Developmental Disabilities. 52: 165-74. PMID 24937742 DOI: 10.1352/1934-9556-52.3.165  1
2014 Douet V, Chang L, Pritchett A, Lee K, Keating B, Bartsch H, Jernigan TL, Dale A, Akshoomoff N, Murray S, Bloss C, Kennedy DN, Amaral D, Gruen J, Kaufmann WE, et al. Schizophrenia-risk variant rs6994992 in the neuregulin-1 gene on brain developmental trajectories in typically developing children. Translational Psychiatry. 4: e392. PMID 24865593 DOI: 10.1038/tp.2014.41  1
2014 Talisa VB, Boyle L, Crafa D, Kaufmann WE. Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey. American Journal of Medical Genetics. Part A. 164: 1198-203. PMID 24664669 DOI: 10.1002/ajmg.a.36468  1
2014 Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, ... ... Kaufmann WE, et al. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 111: 4596-601. PMID 24623853 DOI: 10.1073/pnas.1311141111  1
2014 Marschik PB, Bartl-Pokorny KD, Sigafoos J, Urlesberger L, Pokorny F, Didden R, Einspieler C, Kaufmann WE. Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome. Research in Developmental Disabilities. 35: 597-602. PMID 24480609 DOI: 10.1016/j.ridd.2014.01.004  1
2014 Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of Medical Genetics. 51: 152-8. PMID 24399845 DOI: 10.1136/jmedgenet-2013-102113  1
2014 Thomas AG, O'Driscoll CM, Bressler J, Kaufmann W, Rojas CJ, Slusher BS. Small molecule glutaminase inhibitors block glutamate release from stimulated microglia. Biochemical and Biophysical Research Communications. 443: 32-6. PMID 24269238 DOI: 10.1016/j.bbrc.2013.11.043  1
2014 Akshoomoff N, Newman E, Thompson WK, McCabe C, Bloss CS, Chang L, Amaral DG, Casey BJ, Ernst TM, Frazier JA, Gruen JR, Kaufmann WE, Kenet T, Kennedy DN, Libiger O, et al. The NIH Toolbox Cognition Battery: results from a large normative developmental sample (PING). Neuropsychology. 28: 1-10. PMID 24219608 DOI: 10.1037/neu0000001  1
2014 Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, Kaufmann WE, Pokorny F, Grossmann T, Windpassinger C, Petek E, Einspieler C. Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development. Developmental Neurorehabilitation. 17: 34-8. PMID 24088025 DOI: 10.3109/17518423.2013.837537  1
2014 Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP. Common DNA methylation alterations in multiple brain regions in autism. Molecular Psychiatry. 19: 862-71. PMID 23999529 DOI: 10.1038/mp.2013.114  1
2014 Ranta ME, Chen M, Crocetti D, Prince JL, Subramaniam K, Fischl B, Kaufmann WE, Mostofsky SH. Automated MRI parcellation of the frontal lobe. Human Brain Mapping. 35: 2009-26. PMID 23897577 DOI: 10.1002/hbm.22309  1
2013 O'Driscoll CM, Kaufmann WE, Bressler JP. MeCP2 deficiency enhances glutamate release through NF-κB signaling in myeloid derived cells. Journal of Neuroimmunology. 265: 61-7. PMID 24268627 DOI: 10.1016/j.jneuroim.2013.09.002  1
2013 Eicher JD, Powers NR, Miller LL, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, et al. Genome-wide association study of shared components of reading disability and language impairment. Genes, Brain, and Behavior. 12: 792-801. PMID 24024963 DOI: 10.1111/gbb.12085  1
2013 Montaño CM, Irizarry RA, Kaufmann WE, Talbot K, Gur RE, Feinberg AP, Taub MA. Measuring cell-type specific differential methylation in human brain tissue. Genome Biology. 14: R94. PMID 24000956 DOI: 10.1186/gb-2013-14-8-r94  1
2013 Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C. Early socio-communicative forms and functions in typical Rett syndrome. Research in Developmental Disabilities. 34: 3133-8. PMID 23891731 DOI: 10.1016/j.ridd.2013.06.040  1
2013 Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV. Changing the perspective on early development of Rett syndrome. Research in Developmental Disabilities. 34: 1236-9. PMID 23400005 DOI: 10.1016/j.ridd.2013.01.014  1
2013 O'Driscoll C, Kaufmann WE, Bressler J. Relationship between Mecp2 and NFκb signaling during neural differentiation of P19 cells. Brain Research. 1490: 35-42. PMID 23123205 DOI: 10.1016/j.brainres.2012.10.041  1
2012 Walhovd KB, Fjell AM, Brown TT, Kuperman JM, Chung Y, Hagler DJ, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, ... ... Kaufmann WE, et al. Long-term influence of normal variation in neonatal characteristics on human brain development. Proceedings of the National Academy of Sciences of the United States of America. 109: 20089-94. PMID 23169628 DOI: 10.1073/pnas.1208180109  1
2012 Fjell AM, Walhovd KB, Brown TT, Kuperman JM, Chung Y, Hagler DJ, Venkatraman V, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Darst BF, ... ... Kaufmann WE, et al. Multimodal imaging of the self-regulating developing brain. Proceedings of the National Academy of Sciences of the United States of America. 109: 19620-5. PMID 23150548 DOI: 10.1073/pnas.1208243109  1
2012 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. 130: 1126-35. PMID 23129072 DOI: 10.1542/peds.2012-0693  1
2012 Brown TT, Kuperman JM, Chung Y, Erhart M, McCabe C, Hagler DJ, Venkatraman VK, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, ... Kaufmann WE, et al. Neuroanatomical assessment of biological maturity. Current Biology : Cb. 22: 1693-8. PMID 22902750 DOI: 10.1016/j.cub.2012.07.002  1
2012 Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J. Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Research in Developmental Disabilities. 33: 1749-56. PMID 22699249 DOI: 10.1016/j.ridd.2012.04.012  1
2012 Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C. Peculiarities in the gestural repertoire: an early marker for Rett syndrome? Research in Developmental Disabilities. 33: 1715-21. PMID 22699245 DOI: 10.1016/j.ridd.2012.05.014  1
2012 Swedo SE, Baird G, Cook EH, Happé FG, Harris JC, Kaufmann WE, King BH, Lord CE, Piven J, Rogers SJ, Spence SJ, Wetherby A, Wright HH. Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders. Journal of the American Academy of Child and Adolescent Psychiatry. 51: 347-9. PMID 22449639 DOI: 10.1016/j.jaac.2012.02.013  1
2012 Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, ... ... Kaufmann W, et al. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proceedings of the National Academy of Sciences of the United States of America. 109: 3985-90. PMID 22343285 DOI: 10.1073/pnas.1105829109  1
2012 Sansone SM, Widaman KF, Hall SS, Reiss AL, Lightbody A, Kaufmann WE, Berry-Kravis E, Lachiewicz A, Brown EC, Hessl D. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. Journal of Autism and Developmental Disorders. 42: 1377-92. PMID 21972117 DOI: 10.1007/s10803-011-1370-2  1
2012 Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S. Social impairments in Rett syndrome: characteristics and relationship with clinical severity. Journal of Intellectual Disability Research : Jidr. 56: 233-47. PMID 21385260 DOI: 10.1111/j.1365-2788.2011.01404.x  1
2011 Mahone EM, Ranta ME, Crocetti D, O'Brien J, Kaufmann WE, Denckla MB, Mostofsky SH. Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder. Journal of the International Neuropsychological Society : Jins. 17: 1047-57. PMID 21923979 DOI: 10.1017/S1355617711001056  1
2011 Blue ME, Kaufmann WE, Bressler J, Eyring C, O'driscoll C, Naidu S, Johnston MV. Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice. Anatomical Record (Hoboken, N.J. : 2007). 294: 1624-34. PMID 21901842 DOI: 10.1002/ar.21380  1
2011 Budimirovic DB, Kaufmann WE. What can we learn about autism from studying fragile X syndrome? Developmental Neuroscience. 33: 379-94. PMID 21893949 DOI: 10.1159/000330213  1
2011 Ji NY, Capone GT, Kaufmann WE. Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis. Journal of Intellectual Disability Research : Jidr. 55: 1064-77. PMID 21883598 DOI: 10.1111/j.1365-2788.2011.01465.x  1
2011 Foley KR, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann WE, Leonard H. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. Journal of Child Neurology. 26: 1237-45. PMID 21636779 DOI: 10.1177/0883073811402688  1
2011 Peterson DJ, Ryan M, Rimrodt SL, Cutting LE, Denckla MB, Kaufmann WE, Mahone EM. Increased regional fractional anisotropy in highly screened attention-deficit hyperactivity disorder (ADHD). Journal of Child Neurology. 26: 1296-302. PMID 21628699 DOI: 10.1177/0883073811405662  1
2011 Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proceedings of the National Academy of Sciences of the United States of America. 108: 4920-5. PMID 21383172 DOI: 10.1073/pnas.1102233108  1
2011 Peters SU, Kaufmann WE, Bacino CA, Anderson AW, Adapa P, Chu Z, Yallampalli R, Traipe E, Hunter JV, Wilde EA. Alterations in white matter pathways in Angelman syndrome. Developmental Medicine and Child Neurology. 53: 361-7. PMID 21121904 DOI: 10.1111/j.1469-8749.2010.03838.x  1
2011 Downs J, Bebbington A, Kaufmann WE, Leonard H. Longitudinal hand function in Rett syndrome. Journal of Child Neurology. 26: 334-40. PMID 20921565 DOI: 10.1177/0883073810381920  1
2011 Barnett BP, Bressler J, Chen T, Hutchins GM, Crain BJ, Kaufmann WE. αB-crystallin negative astrocytic inclusions. Brain & Development. 33: 349-52. PMID 20621427 DOI: 10.1016/j.braindev.2010.06.013  1
2011 Daniels AM, Rosenberg RE, Law JK, Lord C, Kaufmann WE, Law PA. Stability of initial autism spectrum disorder diagnoses in community settings. Journal of Autism and Developmental Disorders. 41: 110-21. PMID 20473589 DOI: 10.1007/s10803-010-1031-x  1
2011 Makkonen I, Riikonen R, Kuikka JT, Kokki H, Bressler JP, Marshall C, Kaufmann WE. Brain derived neurotrophic factor and serotonin transporter binding as markers of clinical response to fluoxetine therapy in children with autism Journal of Pediatric Neurology. 9: 1-8. DOI: 10.3233/JPN-2010-0446  1
2011 Bressler J, O'Driscoll C, Marshall C, Kaufmann W. P19 embryonic carcinoma cell line: A model to study gene-environment interactions Neuromethods. 56: 223-240. DOI: 10.1007/978-1-61779-077-5_10  1
2010 Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK. Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology. 68: 944-50. PMID 21154482 DOI: 10.1002/ana.22124  1
2010 Boyle L, Kaufmann WE. The behavioral phenotype of FMR1 mutations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 154: 469-76. PMID 20981777 DOI: 10.1002/ajmg.c.30277  1
2010 Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 9929-38. PMID 20660275 DOI: 10.1523/JNEUROSCI.1714-10.2010  1
2010 Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Developmental Medicine and Child Neurology. 52: 817-23. PMID 20345957 DOI: 10.1111/j.1469-8749.2010.03636.x  1
2010 Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 282-8. PMID 19908321 DOI: 10.1002/mds.22851  1
2010 Rimrodt SL, Peterson DJ, Denckla MB, Kaufmann WE, Cutting LE. White matter microstructural differences linked to left perisylvian language network in children with dyslexia. Cortex; a Journal Devoted to the Study of the Nervous System and Behavior. 46: 739-49. PMID 19682675 DOI: 10.1016/j.cortex.2009.07.008  1
2009 Roberts JE, Clarke MA, Alcorn K, Carter JC, Long AC, Kaufmann WE. Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction. Journal of Neurodevelopmental Disorders. 1: 283-91. PMID 21547720 DOI: 10.1007/s11689-009-9028-5  1
2009 Rosenberg RE, Law JK, Yenokyan G, McGready J, Kaufmann WE, Law PA. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatrics & Adolescent Medicine. 163: 907-14. PMID 19805709 DOI: 10.1001/archpediatrics.2009.98  1
2009 Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. American Journal of Medical Genetics. Part A. 149: 1125-37. PMID 19441123 DOI: 10.1002/ajmg.a.32848  1
2009 Carter JC, Lanham DC, Cutting LE, Clements-Stephens AM, Chen X, Hadzipasic M, Kim J, Denckla MB, Kaufmann WE. A dual DTI approach to analyzing white matter in children with dyslexia. Psychiatry Research. 172: 215-9. PMID 19346108 DOI: 10.1016/j.pscychresns.2008.09.005  1
2009 Ranta ME, Crocetti D, Clauss JA, Kraut MA, Mostofsky SH, Kaufmann WE. Manual MRI parcellation of the frontal lobe. Psychiatry Research. 172: 147-54. PMID 19324532 DOI: 10.1016/j.pscychresns.2009.01.006  1
2009 Rosenberg RE, Daniels AM, Law JK, Law PA, Kaufmann WE. Trends in autism spectrum disorder diagnoses: 1994-2007. Journal of Autism and Developmental Disorders. 39: 1099-111. PMID 19294498 DOI: 10.1007/s10803-009-0723-6  1
2009 Horská A, Farage L, Bibat G, Nagae LM, Kaufmann WE, Barker PB, Naidu S. Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. Annals of Neurology. 65: 90-7. PMID 19194883 DOI: 10.1002/ana.21562  1
2009 Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics. 123: 378-90. PMID 19117905 DOI: 10.1542/peds.2008-0317  1
2008 Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics. 39: 205-10. PMID 19165708 DOI: 10.1055/s-0028-1104575  1
2008 Park S, Park JM, Kim S, Kim JA, Shepherd JD, Smith-Hicks CL, Chowdhury S, Kaufmann W, Kuhl D, Ryazanov AG, Huganir RL, Linden DJ, Worley PF. Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD. Neuron. 59: 70-83. PMID 18614030 DOI: 10.1016/j.neuron.2008.05.023  1
2008 Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. American Journal of Medical Genetics. Part A. 146: 1358-67. PMID 18412117 DOI: 10.1002/ajmg.a.32261  1
2008 Carter JC, Capone GT, Kaufmann WE. Neuroanatomic correlates of autism and stereotypy in children with Down syndrome. Neuroreport. 19: 653-6. PMID 18382280 DOI: 10.1097/WNR.0b013e3282faa8d8  1
2008 Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 70: 868-75. PMID 18332345 DOI: 10.1212/01.wnl.0000304752.50773.ec  1
2008 Carter JC, Lanham DC, Pham D, Bibat G, Naidu S, Kaufmann WE. Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. Ajnr. American Journal of Neuroradiology. 29: 436-41. PMID 18065507 DOI: 10.3174/ajnr.A0857  1
2008 Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics. 167: 661-9. PMID 17684768 DOI: 10.1007/s00431-007-0569-x  1
2007 Roberts JE, Weisenfeld LA, Hatton DD, Heath M, Kaufmann WE. Social approach and autistic behavior in children with fragile X syndrome. Journal of Autism and Developmental Disorders. 37: 1748-60. PMID 17180715 DOI: 10.1007/s10803-006-0305-9  1
2007 Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE, Ellaway C, Leonard H. Development of a video-based evaluation tool in Rett syndrome. Journal of Autism and Developmental Disorders. 37: 1636-46. PMID 17180458 DOI: 10.1007/s10803-006-0293-9  1
2007 Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 87-94. PMID 16958028 DOI: 10.1002/ajmg.b.30407  1
2007 Kaufmann WE, Carter JC, Bukelis I, Lieberman DN. Neurobiology of genetic mental retardation Neurobiology of Disease. 563-573. DOI: 10.1016/B978-012088592-3/50052-9  1
2006 Budimirovic DB, Bukelis I, Cox C, Gray RM, Tierney E, Kaufmann WE. Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal. American Journal of Medical Genetics. Part A. 140: 1814-26. PMID 16906564 DOI: 10.1002/ajmg.a.31405  1
2006 Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 67: 164-6. PMID 16832102 DOI: 10.1212/01.wnl.0000223318.28938.45  1
2006 Melnikova T, Savonenko A, Wang Q, Liang X, Hand T, Wu L, Kaufmann WE, Vehmas A, Andreasson KI. Cycloxygenase-2 activity promotes cognitive deficits but not increased amyloid burden in a model of Alzheimer's disease in a sex-dimorphic pattern. Neuroscience. 141: 1149-62. PMID 16753269 DOI: 10.1016/j.neuroscience.2006.05.001  1
2005 Kaufmann WE, Johnston MV, Blue ME. MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain & Development. 27: S77-S87. PMID 16182491 DOI: 10.1016/j.braindev.2004.10.008  1
2005 Kanaan RA, Kim JS, Kaufmann WE, Pearlson GD, Barker GJ, McGuire PK. Diffusion tensor imaging in schizophrenia. Biological Psychiatry. 58: 921-9. PMID 16043134 DOI: 10.1016/j.biopsych.2005.05.015  1
2005 Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation. Brain & Development. 27: 331-9. PMID 16023547 DOI: 10.1016/j.braindev.2004.09.005  1
2005 Capone GT, Grados MA, Kaufmann WE, Bernad-Ripoll S, Jewell A. Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. American Journal of Medical Genetics. Part A. 134: 373-80. PMID 15759262 DOI: 10.1002/ajmg.a.30622  1
2004 Solis C, Martinez-Bermejo A, Naidich TP, Kaufmann WE, Astrin KH, Bishop DF, Desnick RJ. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Archives of Neurology. 61: 1764-70. PMID 15534187 DOI: 10.1001/archneur.61.11.1764  1
2004 Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. American Journal of Medical Genetics. Part A. 129: 225-34. PMID 15326621 DOI: 10.1002/ajmg.a.30229  1
2004 Kau AS, Tierney E, Bukelis I, Stump MH, Kates WR, Trescher WH, Kaufmann WE. Social behavior profile in young males with fragile X syndrome: characteristics and specificity. American Journal of Medical Genetics. Part A. 126: 9-17. PMID 15039968 DOI: 10.1002/ajmg.a.20218  1
2004 Nagae-Poetscher LM, Bonekamp D, Barker PB, Brant LJ, Kaufmann WE, Horská A. Asymmetry and gender effect in functionally lateralized cortical regions: a proton MRS imaging study. Journal of Magnetic Resonance Imaging : Jmri. 19: 27-33. PMID 14696217 DOI: 10.1002/jmri.10429  1
2003 Jarrar MH, Danko CG, Reddy S, Lee YJ, Bibat G, Kaufmann WE. MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form. Journal of Child Neurology. 18: 675-82. PMID 14649548  1
2003 Kaufmann WE, Cooper KL, Mostofsky SH, Capone GT, Kates WR, Newschaffer CJ, Bukelis I, Stump MH, Jann AE, Lanham DC. Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study. Journal of Child Neurology. 18: 463-70. PMID 12940651  1
2003 Aber KM, Nori P, MacDonald SM, Bibat G, Jarrar MH, Kaufmann WE. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Neuroscience. 116: 77-80. PMID 12535940 DOI: 10.1016/S0306-4522(02)00586-9  1
2002 Cutting LE, Cooper KL, Koth CW, Mostofsky SH, Kates WR, Denckla MB, Kaufmann WE. Megalencephaly in NF1: predominantly white matter contribution and mitigation by ADHD. Neurology. 59: 1388-94. PMID 12427889  1
2002 Kates WR, Frederikse M, Mostofsky SH, Folley BS, Cooper K, Mazur-Hopkins P, Kofman O, Singer HS, Denckla MB, Pearlson GD, Kaufmann WE. MRI parcellation of the frontal lobe in boys with attention deficit hyperactivity disorder or Tourette syndrome. Psychiatry Research. 116: 63-81. PMID 12426035 DOI: 10.1016/S0925-4927(02)00066-5  1
2002 Mostofsky SH, Cooper KL, Kates WR, Denckla MB, Kaufmann WE. Smaller prefrontal and premotor volumes in boys with attention-deficit/hyperactivity disorder. Biological Psychiatry. 52: 785-94. PMID 12372650 DOI: 10.1016/S0006-3223(02)01412-9  1
2002 Kates WR, Folley BS, Lanham DC, Capone GT, Kaufmann WE. Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome. Microscopy Research and Technique. 57: 159-67. PMID 12112452 DOI: 10.1002/jemt.10068  1
2002 Horská A, Kaufmann WE, Brant LJ, Naidu S, Harris JC, Barker PB. In vivo quantitative proton MRSI study of brain development from childhood to adolescence. Journal of Magnetic Resonance Imaging : Jmri. 15: 137-43. PMID 11836768 DOI: 10.1002/jmri.10057  1
2002 Fredericksen KA, Cutting LE, Kates WR, Mostofsky SH, Singer HS, Cooper KL, Lanham DC, Denckla MB, Kaufmann WE. Disproportionate increases of white matter in right frontal lobe in Tourette syndrome. Neurology. 58: 85-9. PMID 11781410  1
2001 Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen KA, Barker PB, Horska A, Golay X, Mori S, Wong DF, Yablonski M, Moser HW, Johnston MV. Neuroimaging studies in Rett syndrome. Brain & Development. 23: S62-71. PMID 11738844 DOI: 10.1016/S0387-7604(01)00381-3  1
2001 Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiology of Disease. 8: 847-65. PMID 11592853 DOI: 10.1006/nbdi.2001.0428  1
2001 Andreasson KI, Savonenko A, Vidensky S, Goellner JJ, Zhang Y, Shaffer A, Kaufmann WE, Worley PF, Isakson P, Markowska AL. Age-dependent cognitive deficits and neuronal apoptosis in cyclooxygenase-2 transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 8198-209. PMID 11588192  1
2001 Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grados M, Geraghty M, Kaufmann WE, Pearlson GD. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biological Psychiatry. 49: 677-84. PMID 11313035 DOI: 10.1016/S0006-3223(00)01002-7  1
2000 Wang PY, Kaufmann WE, Koth CW, Denckla MB, Barker PB. Thalamic involvement in neurofibromatosis type 1: evaluation with proton magnetic resonance spectroscopic imaging. Annals of Neurology. 47: 477-84. PMID 10762159 DOI: 10.1002/1531-8249(200004)47:4<477::AID-ANA11>3.0.CO;2-C  1
2000 Cutting LE, Koth CW, Burnette CP, Abrams MT, Kaufmann WE, Denckla MB. Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1. Journal of Child Neurology. 15: 157-60. PMID 10757470  1
1999 Kates WR, Warsofsky IS, Patwardhan A, Abrams MT, Liu AM, Naidu S, Kaufmann WE, Reiss AL. Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children. Psychiatry Research. 91: 11-30. PMID 10496689  0.96
1999 Belcher HM, Shapiro BK, Leppert M, Butz AM, Sellers S, Arch E, Kolodner K, Pulsifer M, Lears MK, Kaufmann WE. Sequential neuromotor examination in children with intrauterine cocaine/polydrug exposure. Developmental Medicine and Child Neurology. 41: 240-6. PMID 10355807 DOI: 10.1017/S0012162299000511  1
1999 Kaufmann WE, Abrams MT, Chen W, Reiss AL. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. American Journal of Medical Genetics. 83: 286-95. PMID 10208163 DOI: 10.1002/(SICI)1096-8628(19990402)83:4<286::AID-AJMG10>3.0.CO;2-H  0.96
1999 Kaufmann WE, Reiss AL. Molecular and cellular genetics of fragile X syndrome. American Journal of Medical Genetics. 88: 11-24. PMID 10050961 DOI: 10.1002/(SICI)1096-8628(19990205)88:1<11::AID-AJMG3>3.0.CO;2-O  0.96
1999 Abrams MT, Kaufmann WE, Rousseau F, Oostra BA, Wolozin B, Taylor CV, Lishaa N, Morel ML, Hoogeveen A, Reiss AL. FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. American Journal of Medical Genetics. 82: 25-30. PMID 9916838 DOI: 10.1002/(SICI)1096-8628(19990101)82:1<25::AID-AJMG5>3.0.CO;2-Y  1
1998 Belcher HM, Shapiro BK, Leppert M, Butz AM, Sellers S, Arch E, Kolodner K, Pulsifer M, Lears K, Kaufmann WE. Sequential neuromotor examination of children with intrauterine drug exposure. Annals of the New York Academy of Sciences. 846: 362-4. PMID 9668425 DOI: 10.1111/j.1749-6632.1998.tb09755.x  1
1998 Kates WR, Mostofsky SH, Zimmerman AW, Mazzocco MM, Landa R, Warsofsky IS, Kaufmann WE, Reiss AL. Neuroanatomical and neurocognitive differences in a pair of monozygous twins discordant for strictly defined autism. Annals of Neurology. 43: 782-91. PMID 9629848 DOI: 10.1002/ana.410430613  1
1997 Kaplan DM, Liu AM, Abrams MT, Warsofsky IS, Kates WR, White CD, Kaufmann WE, Reiss AL. Application of an automated parcellation method to the analysis of pediatric brain volumes. Psychiatry Research. 76: 15-27. PMID 9498306  0.96
1997 Kaufmann WE, Taylor CV, Hohmann CF, Sanwal IB, Naidu S. Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates. European Child & Adolescent Psychiatry. 6: 75-7. PMID 9452926  1
1997 Kaufmann WE, Andreasson KI, Isakson PC, Worley PF. Cyclooxygenases and the central nervous system. Prostaglandins. 54: 601-24. PMID 9373877 DOI: 10.1016/S0090-6980(97)00128-7  1
1997 Kaufmann WE, Taylor CV, Lishaa NA. Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortex. Molecular and Chemical Neuropathology / Sponsored by the International Society For Neurochemistry and the World Federation of Neurology and Research Groups On Neurochemistry and Cerebrospinal Fluid. 31: 235-44. PMID 9336766 DOI: 10.1007/BF02815127  1
1997 Kates WR, Abrams MT, Kaufmann WE, Breiter SN, Reiss AL. Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome. Psychiatry Research. 75: 31-48. PMID 9287372  0.96
1997 Kaufmann WE, Worley PF, Taylor CV, Bremer M, Isakson PC. Cyclooxygenase-2 expression during rat neocortical development and in Rett syndrome. Brain & Development. 19: 25-34. PMID 9071487 DOI: 10.1016/S0387-7604(96)00047-2  1
1997 Cohen NA, Kaufmann WE, Worley PF, Rupp F. Expression of agrin in the developing and adult rat brain. Neuroscience. 76: 581-96. PMID 9015340 DOI: 10.1016/S0306-4522(96)00345-4  1
1996 Kaufmann WE, Worley PF, Pegg J, Bremer M, Isakson P. COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortex. Proceedings of the National Academy of Sciences of the United States of America. 93: 2317-21. PMID 8637870 DOI: 10.1073/pnas.93.6.2317  1
1995 Lyford GL, Yamagata K, Kaufmann WE, Barnes CA, Sanders LK, Copeland NG, Gilbert DJ, Jenkins NA, Lanahan AA, Worley PF. Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites. Neuron. 14: 433-45. PMID 7857651 DOI: 10.1016/0896-6273(95)90299-6  1
1994 Yamagata K, Kaufmann WE, Lanahan A, Papapavlou M, Barnes CA, Andreasson KI, Worley PF. Egr3/Pilot, a zinc finger transcription factor, is rapidly regulated by activity in brain neurons and colocalizes with Egr1/zif268. Learning & Memory (Cold Spring Harbor, N.Y.). 1: 140-52. PMID 10467592  1
1990 Humphreys P, Kaufmann WE, Galaburda AM. Developmental dyslexia in women: neuropathological findings in three patients. Annals of Neurology. 28: 727-38. PMID 2285260 DOI: 10.1002/ana.410280602  1
1989 Kaufmann WE, Galaburda AM. Cerebrocortical microdysgenesis in neurologically normal subjects: a histopathologic study. Neurology. 39: 238-44. PMID 2915796  1
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