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    Elliott Sherr, MD, PhD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentNeurology
    Address675 Nelson Rising Lane
    San Francisco CA 94158
    Phone415-514-9306
    vCardDownload vCard

      Collapse Biography 
      Collapse Education and Training
      University of California, San FranciscoResidency School of Medicine
      Columbia UniversityM.D.School of Medicine1995

      Collapse ORNG Applications 
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      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A. 2016 Jul; 170(7):1791-8. PMID: 27133397.
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      2. 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. J Neurosci. 2016 Apr 20; 36(16):4522-33. PMID: 27098695.
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      3. 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, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5; 98(5):963-70. PMID: 27087320.
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      4. Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP. Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers. AJNR Am J Neuroradiol. 2016 Feb 11. PMID: 26869473.
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      5. Bassuk AG, Sherr EH. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. J Neurogenet. 2015 Dec; 29(4):174-7. PMID: 26727662.
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      6. 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, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan 1; 73(1):20-30. PMID: 26629640.
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      7. Uzgil B, Sherr EH. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. 2015 Nov 18. PMID: 26581303.
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      8. 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 Clin. 2015; 9:50-7. PMID: 26413471.
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      9. Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet. 2015 Aug; 1(2):e16. PMID: 27066553.
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      10. 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. 2015; 10(6):e0123656. PMID: 26115451.
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      11. 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, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. PMID: 26066539.
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      12. 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, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol. 2015 Jun; 2(6):623-35. PMID: 26125038.
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      13. 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. Cereb Cortex. 2015 Feb 11. PMID: 25678630.
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      14. 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. 2015 Sep; 29(5):751-8. PMID: 25528608.
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      15. 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. Mol Autism. 2014; 5:57. PMID: 25874073.
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      16. Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014 Oct; 11(4):796-806. PMID: 25266964.
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      17. 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. J Neurosci. 2014 Aug 20; 34(34):11199-211. PMID: 25143601; PMCID: PMC4138332 [Available on 02/20/15].
      18. 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, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry. 2015 May 1; 77(9):785-93. PMID: 25064419.
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      19. 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. Am J Med Genet A. 2014 Jul; 164A(7):1744-9. PMID: 24838796.
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      20. 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. J Neurosci. 2014 Apr 30; 34(18):6214-23. PMID: 24790192.
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      21. 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, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 1; 94(5):734-44. PMID: 24726473; PMCID: PMC4067551.
      22. Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014 Jun; 137(Pt 6):1579-613. PMID: 24477430; PMCID: PMC4032094 [Available on 06/01/15].
      23. 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 Connect. 2013; 3(6):547-62. PMID: 24063289; PMCID: PMC3868398.
      24. 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, Hakonarson H, Dobyns WB, Sherr EH. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823. PMID: 24098143; PMCID: PMC3789824.
      25. 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, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. PMID: 23934111; PMCID: PMC3773011.
      26. Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol. 2013 Aug; 74(2):164-70. PMID: 23775934.
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      27. 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. Am J Med Genet A. 2013 Jul; 161A(7):1523-30. PMID: 23704059; PMCID: PMC3689850.
      28. 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. J Autism Dev Disord. 2013 May; 43(5):1106-18. PMID: 23054201; PMCID: PMC3625480.
      29. 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. 2013; 8(4):e61829. PMID: 23613947; PMCID: PMC3626795.
      30. 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, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 7; 92(3):392-400. PMID: 23453666; PMCID: PMC3591854.
      31. Winawer MR, Connors R. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia. 2013 Feb; 54(2):288-95. PMID: 23294289; PMCID: PMC3566298.
      32. 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 Connect. 2013; 3(2):160-76. PMID: 23350832; PMCID: PMC3634151.
      33. 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. 2013 Apr 15; 70:340-55. PMID: 23268782; PMCID: PMC4127170.
      34. 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, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. PMID: 23054248; PMCID: PMC3494011.
      35. 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 Res. 2012 Oct; 5(5):340-51. PMID: 22933354; PMCID: PMC3474892.
      36. 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. 2012; 7(8):e39804. PMID: 22870191; PMCID: PMC3411722.
      37. 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. 2012; 13:121. PMID: 22672699; PMCID: PMC3403908.
      38. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012 Aug; 53(8):1457-67. PMID: 22642626; PMCID: PMC3418423.
      39. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22; 73(6):1063-7. PMID: 22445335.
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      40. 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. J Int Neuropsychol Soc. 2012 May; 18(3):521-9. PMID: 22390821; PMCID: PMC3605885.
      41. 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, Lu QR. Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system. Neuron. 2012 Feb 23; 73(4):713-28. PMID: 22365546; PMCID: PMC3293152.
      42. 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. 2012 Feb 7; 78(6):440-1; author reply 441-2. PMID: 22311931.
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      43. 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 Med Genet. 2011; 12:172. PMID: 22204637; PMCID: PMC3262754.
      44. 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. Hum Mutat. 2012 Feb; 33(2):364-8. PMID: 22095910; PMCID: PMC3401628.
      45. 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. 2011 Oct 25; 77(17):1629-35. PMID: 21956720.
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      46. 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, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011 Sep 27; 77(13):1287-94. PMID: 21917775; PMCID: PMC3179649.
      47. 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. Pediatr Neurol. 2011 Sep; 45(3):149-54. PMID: 21824560; PMCID: PMC3153732.
      48. 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. Am J Med Genet A. 2011 Aug; 155A(8):1865-76. PMID: 21739582.
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      49. Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH. Clinical Reasoning: An encephalopathic 3-day-old infant. Neurology. 2011 Jul 5; 77(1):e1-5. PMID: 21727263; PMCID: PMC3127334.
      50. 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, Chuang NA, Sherr EH, Gleeson JG. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82. PMID: 21263138; PMCID: PMC3034417.
      51. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep; 152A(9):2145-59. PMID: 20683985.
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      52. Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH. Diffusion tensor imaging of Aicardi syndrome. Pediatr Neurol. 2010 Aug; 43(2):87-91. PMID: 20610117; PMCID: PMC3116113.
      53. 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. 2010 Jun; 51(2):531-41. PMID: 20206699; PMCID: PMC2856800.
      54. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80. PMID: 19764032.
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      55. Sherr EH. Introduction. Semin Pediatr Neurol. 2009 Sep; 16(3):99-100. PMID: 19778706.
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      56. 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 Rep. 2009; 2009. PMID: 21731583; PMCID: PMC3028392.
      57. 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 Am J Neuroradiol. 2009 Jun; 30(6):1142-8. PMID: 19246528; PMCID: PMC3777656.
      58. 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 Am J Neuroradiol. 2009 Feb; 30(2):282-9. PMID: 19001538.
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      59. 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 Am J Neuroradiol. 2009 Feb; 30(2):257-63. PMID: 18988682.
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      60. Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A. 2008 Oct 1; 146A(19):2495-500. PMID: 18642362; PMCID: PMC2574703.
      61. Mueller S, Sherr EH. The importance of metabolic testing in the evaluation of intellectual disability. Ann Neurol. 2008 Aug; 64(2):113-4. PMID: 18756505.
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      62. Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol. 2008 May; 38(5):363-6. PMID: 18410855.
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      63. Maccotta L, Sherr EH. Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2008 Mar; 4(3):130-1. PMID: 18212787.
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      64. 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. J Med Genet. 2008 Feb; 45(2):100-5. PMID: 17893116.
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      65. 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. Am J Med Genet A. 2007 Aug 15; 143A(16):1900-5. PMID: 17632789.
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      66. 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. Am J Hum Genet. 2007 Aug; 81(2):292-303. PMID: 17668379; PMCID: PMC1950798.
      67. 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, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. PMID: 17530927; PMCID: PMC1877820.
      68. 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, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul; 81(1):104-13. PMID: 17564967; PMCID: PMC1950920.
      69. 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. Nat Rev Neurosci. 2007 Apr; 8(4):287-99. PMID: 17375041.
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      70. 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 Am J Roentgenol. 2006 Nov; 187(5):1343-8. PMID: 17056927.
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      71. Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006 Sep 15; 140(18):1909-14. PMID: 16894541.
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      72. 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. 2005 Nov 8; 65(9):1496-8. PMID: 16275846.
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      73. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-6. PMID: 15770132.
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      74. 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. Am J Med Genet A. 2005 Mar 1; 133A(2):197-201. PMID: 15633176.
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      75. Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr. 2003 Dec; 15(6):567-71. PMID: 14631200.
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      76. 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 Am J Neuroradiol. 2003 May; 24(5):916-21. PMID: 12748094.
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      77. 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. 2003 Mar 25; 60(6):1033-6. PMID: 12654978.
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      78. 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. J Neurosci. 2002 Dec 1; 22(23):10088-93. PMID: 12451109.
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      79. Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA. Mapping of unconventional myosins in mouse and human. Genomics. 1996 Sep 15; 36(3):431-9. PMID: 8884266.
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      80. Sherr EH, Joyce MP, Greene LA. Mammalian myosin I alpha, I beta, and I gamma: new widely expressed genes of the myosin I family. J Cell Biol. 1993 Mar; 120(6):1405-16. PMID: 8449986; PMCID: PMC2119747.
      81. Saxon A, Giorgi JV, Sherr EH, Kagan JM. Failure of B cells in common variable immunodeficiency to transit from proliferation to differentiation is associated with altered B cell surface-molecule display. J Allergy Clin Immunol. 1989 Jul; 84(1):44-55. PMID: 2787815.
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      82. Sherr E, Macy E, Kimata H, Gilly M, Saxon A. Binding the low affinity Fc epsilon R on B cells suppresses ongoing human IgE synthesis. J Immunol. 1989 Jan 15; 142(2):481-9. PMID: 2521348.
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      83. Kimata H, Sherr EH, Saxon A. Human natural killer (NK) cells produce a late-acting B-cell differentiation activity. J Clin Immunol. 1988 Sep; 8(5):381-9. PMID: 3263382.
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      84. Sherr E, Adelman DC, Saxon A, Gilly M, Wall R, Sidell N. Retinoic acid induces the differentiation of B cell hybridomas from patients with common variable immunodeficiency. J Exp Med. 1988 Jul 1; 168(1):55-71. PMID: 3294336; PMCID: PMC2189392.
      85. Sherr EH, Saxon A, Wells JR. Functional and phenotypic characterization of human B lymphocyte subsets isolated by unit gravity sedimentation. Int Arch Allergy Appl Immunol. 1988; 85(2):154-60. PMID: 3257466.
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      86. Sherr EH, Stein LD, Dosch HM, Saxon A. IgE-enhancing activity directly and selectively affects activated B cells: evidence for a human IgE differentiation factor. J Immunol. 1987 Jun 1; 138(11):3836-43. PMID: 3108377.
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      87. Sherr EH, Saxon A. A mechanism for the suppression of ongoing IgE synthesis. Int Arch Allergy Appl Immunol. 1987; 82(3-4):414-6. PMID: 2952603.
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