Elliott H. Sherr, M.D., Ph.D. - Publications

Affiliations: 
Neurology University of California, San Francisco, San Francisco, CA 
Area:
Agenesis of the Corpus Callosum

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Year Citation  Score
2018 Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, ... ... Sherr EH, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. American Journal of Human Genetics. 103: 752-768. PMID 30388402 DOI: 10.1016/j.ajhg.2018.10.006  0.52
2018 Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P, Chung WK, ... Sherr EH, et al. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biological Psychiatry. PMID 29778275 DOI: 10.1016/j.biopsych.2018.02.1176  0.4
2018 Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS. Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions. Scientific Reports. 8: 1274. PMID 29352208 DOI: 10.1038/s41598-018-19751-x  0.52
2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, ... ... Sherr EH, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/humu.23400  0.52
2017 Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH. Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. Radiology. 162934. PMID 28786752 DOI: 10.1148/radiol.2017162934  0.6
2016 Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Reports. 17: 735-747. PMID 27732850 DOI: 10.1016/j.celrep.2016.09.033  0.6
2016 Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, ... ... Sherr EH, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics. PMID 27571260 DOI: 10.1038/ng.3661  0.6
2016 Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain : a Journal of Neurology. PMID 27474217 DOI: 10.1093/brain/aww171  0.6
2016 Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. American Journal of Medical Genetics. Part A. PMID 27410714 DOI: 10.1002/ajmg.a.37820  0.6
2016 Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Human Brain Mapping. PMID 27219475 DOI: 10.1002/hbm.23211  0.6
2016 Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS. The Contribution of the Corpus Callosum to Language Lateralization. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 4522-33. PMID 27098695 DOI: 10.1523/JNEUROSCI.3850-14.2016  0.6
2016 Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, ... ... Sherr EH, et al. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. American Journal of Human Genetics. PMID 27087320 DOI: 10.1016/j.ajhg.2016.03.002  0.6
2016 Bassuk AG, Sherr EH. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. Journal of Neurogenetics. 1-4. PMID 26727662 DOI: 10.3109/01677063.2015.1088847  0.6
2015 D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, ... ... Sherr EH, et al. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. Jama Psychiatry. 1-11. PMID 26629640 DOI: 10.1001/jamapsychiatry.2015.2123  0.6
2015 Uzgil B, Sherr EH. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. PMID 26581303 DOI: 10.1212/WNL.0000000000002227  0.6
2015 Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage. Clinical. 9: 50-57. PMID 26413471 DOI: 10.1016/j.nicl.2015.07.006  0.6
2015 Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, ... ... Sherr EH, et al. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Annals of Clinical and Translational Neurology. 2: 623-35. PMID 26125038 DOI: 10.1002/acn3.198  0.6
2015 Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation. Plos One. 10: e0123656. PMID 26115451 DOI: 10.1371/journal.pone.0123656  0.6
2015 Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26066539 DOI: 10.1038/gim.2015.78  0.6
2015 Jenkins J, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cerebral Cortex (New York, N.Y. : 1991). PMID 25678630 DOI: 10.1093/cercor/bhv008  0.6
2015 Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, ... ... Sherr E, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biological Psychiatry. 77: 785-93. PMID 25064419 DOI: 10.1016/j.biopsych.2014.04.021  0.6
2015 Demopoulos C, Yu N, Paul LK, Sherr EH, Marco EJ. Corpus callosum in cognitive and sensory processing: Insights into autism Future Neurology. 10: 147-160. DOI: 10.2217/fnl.14.70  0.6
2015 Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R, Abou-Khalil B, Alldredge B, Andermann E, Bautista J, Berkovic S, Boro A, ... ... Sherr E, et al. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy Epilepsy and Behavior. 51: 321-327. DOI: 10.1016/j.yebeh.2015.07.041  0.6
2015 Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TPL. Abnormal auditory and language pathways in children with 16p11.2 deletion Neuroimage: Clinical. 9: 50-57. DOI: 10.1016/j.nicl.2015.07.006  0.6
2014 Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH. Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. Molecular Autism. 5: 57. PMID 25874073 DOI: 10.1186/2040-2392-5-57  0.6
2014 Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E. Individuals With Agenesis of the Corpus Callosum Show Sensory Processing Differences as Measured by the Sensory Profile. Neuropsychology. PMID 25528608 DOI: 10.1037/neu0000165  0.6
2014 Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 11: 796-806. PMID 25266964 DOI: 10.1007/s13311-014-0301-2  0.6
2014 Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, De Jonghe P, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, ... ... Sherr E, et al. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies American Journal of Human Genetics. 95: 360-370. PMID 25262651 DOI: 10.1016/j.ajhg.2014.08.013  0.6
2014 Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL. Opposing brain differences in 16p11.2 deletion and duplication carriers. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 11199-211. PMID 25143601 DOI: 10.1523/JNEUROSCI.1366-14.2014  0.6
2014 Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. American Journal of Medical Genetics. Part A. 164: 1744-9. PMID 24838796 DOI: 10.1002/ajmg.a.36450  0.6
2014 Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. Aberrant white matter microstructure in children with 16p11.2 deletions. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 6214-23. PMID 24790192 DOI: 10.1523/JNEUROSCI.4495-13.2014  0.6
2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Sherr E, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/j.ajhg.2014.03.015  0.6
2014 Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain : a Journal of Neurology. 137: 1579-613. PMID 24477430 DOI: 10.1093/brain/awt358  0.6
2013 Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, ... ... Sherr EH, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/journal.pgen.1003823  0.6
2013 Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P. Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum. Brain Connectivity. 3: 547-62. PMID 24063289 DOI: 10.1089/brain.2013.0175  0.6
2013 Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, ... ... Sherr EH, ... ... Sherr EH, et al. De novo mutations in epileptic encephalopathies. Nature. 501: 217-21. PMID 23934111 DOI: 10.1038/nature12439  0.6
2013 Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Annals of Neurology. 74: 164-70. PMID 23775934 DOI: 10.1002/ana.23950  0.6
2013 Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/ajmg.a.35969  0.6
2013 Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism. Plos One. 8: e61829. PMID 23613947 DOI: 10.1371/journal.pone.0061829  0.6
2013 Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, ... ... Sherr EH, et al. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400. PMID 23453666 DOI: 10.1016/j.ajhg.2013.02.004  0.6
2013 Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P. Test-retest reliability of computational network measurements derived from the structural connectome of the human brain. Brain Connectivity. 3: 160-76. PMID 23350832 DOI: 10.1089/brain.2012.0121  0.6
2013 Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P. The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70: 340-55. PMID 23268782 DOI: 10.1016/j.neuroimage.2012.12.031  0.6
2013 Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Autism traits in individuals with agenesis of the corpus callosum. Journal of Autism and Developmental Disorders. 43: 1106-18. PMID 23054201 DOI: 10.1007/s10803-012-1653-2  0.6
2013 Sherr EH, Fernandez L. Lissencephalies and Axon Guidance Disorders Neural Circuit Development and Function in the Heathy and Diseased Brain. 573-615. DOI: 10.1016/B978-0-12-397267-5.00128-X  0.6
2012 Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics. 49: 660-8. PMID 23054248 DOI: 10.1136/jmedgenet-2012-101203  0.6
2012 Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS. Children with autism show reduced somatosensory response: an MEG study. Autism Research : Official Journal of the International Society For Autism Research. 5: 340-51. PMID 22933354 DOI: 10.1002/aur.1247  0.6
2012 Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH. The role of corpus callosum development in functional connectivity and cognitive processing. Plos One. 7: e39804. PMID 22870191 DOI: 10.1371/journal.pone.0039804  0.6
2012 Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E. Detection of identity by descent using next-generation whole genome sequencing data Bmc Bioinformatics. 13. PMID 22672699 DOI: 10.1186/1471-2105-13-121  0.6
2012 Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK. Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum. Journal of the International Neuropsychological Society : Jins. 18: 521-9. PMID 22390821 DOI: 10.1017/S1355617712000045  0.6
2012 Weng Q, Chen Y, Wang H, Xu X, Yang B, He Q, Shou W, Chen Y, Higashi Y, van den Berghe V, Seuntjens E, Kernie SG, Bukshpun P, Sherr EH, Huylebroeck D, et al. Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system. Neuron. 73: 713-28. PMID 22365546 DOI: 10.1016/j.neuron.2011.12.021  0.6
2012 Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E. So what? Does the test lead to improved health outcomes? Neurology. 78: 440-1; author reply . PMID 22311931 DOI: 10.1212/WNL.0b013e318248042c  0.6
2012 Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Human Mutation. 33: 364-8. PMID 22095910 DOI: 10.1002/humu.21658  0.6
2012 Weng Q, Chen Y, Wang H, Xu X, Yang B, He Q, Shou W, Higashi Y, van den Berghe V, Seuntjens E, Kernie SG, Bukshpun P, Sherr EH, Huylebroeck D, Lu QR. Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System Neuron. 76: 462. DOI: 10.1016/j.neuron.2012.10.004  0.6
2011 Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. Bmc Medical Genetics. 12: 172. PMID 22204637 DOI: 10.1186/1471-2350-12-172  0.6
2011 Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 77: 1629-35. PMID 21956720 DOI: 10.1212/WNL.0b013e3182345896  0.6
2011 Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, ... ... Sherr E, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 77: 1287-94. PMID 21917775 DOI: 10.1212/WNL.0b013e3182309f72  0.6
2011 Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH. Laterality of brain and ocular lesions in Aicardi syndrome. Pediatric Neurology. 45: 149-54. PMID 21824560 DOI: 10.1016/j.pediatrneurol.2011.04.007  0.6
2011 Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. American Journal of Medical Genetics. Part A. 155: 1865-76. PMID 21739582 DOI: 10.1002/ajmg.a.34081  0.6
2011 Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH. Clinical Reasoning: An encephalopathic 3-day-old infant. Neurology. 77: e1-5. PMID 21727263 DOI: 10.1212/WNL.0b013e3182231407  0.6
2011 Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, ... ... Sherr EH, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/WNL.0b013e318208f492  0.6
2010 O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics. Part A. 152: 2145-59. PMID 20683985 DOI: 10.1002/ajmg.a.33558  0.6
2010 Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH. Diffusion tensor imaging of Aicardi syndrome. Pediatric Neurology. 43: 87-91. PMID 20610117 DOI: 10.1016/j.pediatrneurol.2010.03.005  0.6
2010 Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P. Microstructural correlations of white matter tracts in the human brain. Neuroimage. 51: 531-41. PMID 20206699 DOI: 10.1016/j.neuroimage.2010.02.072  0.6
2009 Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Bmj Case Reports. 2009. PMID 21731583 DOI: 10.1136/bcr.06.2009.1999  0.6
2009 Sherr EH. Introduction. Seminars in Pediatric Neurology. 16: 99-100. PMID 19778706 DOI: 10.1016/j.spen.2009.07.004  0.6
2009 Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, Wakahiro M, Mukherjee P, Sherr EH. Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. Ajnr. American Journal of Neuroradiology. 30: 1142-8. PMID 19246528 DOI: 10.3174/ajnr.A1527  0.6
2009 Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P. Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. Ajnr. American Journal of Neuroradiology. 30: 282-9. PMID 19001538 DOI: 10.3174/ajnr.A1361  0.6
2009 Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. Ajnr. American Journal of Neuroradiology. 30: 257-63. PMID 18988682 DOI: 10.3174/ajnr.A1331  0.6
2008 Mueller S, Sherr EH. The importance of metabolic testing in the evaluation of intellectual disability. Annals of Neurology. 64: 113-4. PMID 18756505 DOI: 10.1002/ana.21468  0.6
2008 Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983-2003: a population-based study. American Journal of Medical Genetics. Part A. 146: 2495-500. PMID 18642362 DOI: 10.1002/ajmg.a.32418  0.6
2008 Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatric Neurology. 38: 363-6. PMID 18410855 DOI: 10.1016/j.pediatrneurol.2008.01.009  0.6
2008 Maccotta L, Sherr EH. Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. Nature Clinical Practice. Neurology. 4: 130-1. PMID 18212787 DOI: 10.1038/ncpneuro0729  0.6
2008 Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Journal of Medical Genetics. 45: 100-5. PMID 17893116 DOI: 10.1136/jmg.2007.052324  0.6
2007 Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics. 81: 292-303. PMID 17668379 DOI: 10.1086/519999  0.6
2007 Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. American Journal of Medical Genetics. Part A. 143: 1900-5. PMID 17632789 DOI: 10.1002/ajmg.a.31855  0.6
2007 Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, ... ... Sherr EH, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026  0.6
2007 Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. Plos Genetics. 3: e80. PMID 17530927 DOI: 10.1371/journal.pgen.0030080  0.6
2007 Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nature Reviews. Neuroscience. 8: 287-99. PMID 17375041 DOI: 10.1038/nrn2107  0.6
2006 Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. Ajr. American Journal of Roentgenology. 187: 1343-8. PMID 17056927 DOI: 10.2214/AJR.05.0146  0.6
2006 Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. American Journal of Medical Genetics. Part A. 140: 1909-14. PMID 16894541 DOI: 10.1002/ajmg.a.31399  0.6
2005 Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 65: 1496-8. PMID 16275846 DOI: 10.1212/01.wnl.0000183066.09239.b6  0.6
2005 Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p Clinical Dysmorphology. 14: 93-96. PMID 15770132 DOI: 10.1097/00019605-200504000-00008  0.6
2005 Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism American Journal of Medical Genetics. 133: 197-201. PMID 15633176 DOI: 10.1002/ajmg.a.30504  0.6
2003 Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Current Opinion in Pediatrics. 15: 567-71. PMID 14631200 DOI: 10.1097/00008480-200312000-00004  0.6
2003 Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. Ajnr. American Journal of Neuroradiology. 24: 916-21. PMID 12748094  0.6
2003 Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 60: 1033-6. PMID 12654978  0.6
2002 Misawa H, Sherr EH, Lee DJ, Chetkovich DM, Tan A, Schreiner CE, Bredt DS. Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 10088-93. PMID 12451109  0.6
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