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Elliott Sherr, MD, PhD

TitleProfessor
InstitutionUniversity of California San Francisco
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.1995School of Medicine

    Collapse Research 
    Collapse Research Activities and Funding
    4 of 7: Epi4K: Epileptic Encephalopathies Project
    NIH/NINDS U01NS077364Sep 30, 2011 - Aug 31, 2014
    Role: Principal Investigator
    Gene Discovery in Aicardi Syndrome: A Special Case of Callosal Agenesis
    NIH/NINDS R21NS062173May 15, 2008 - Dec 31, 2010
    Role: Principal Investigator
    ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
    NIH/NINDS R01NS058721Apr 1, 2007 - Apr 30, 2020
    Role: Principal Investigator
    Genetic Etiologies of Agenesis of the Corpus Callosum
    NIH/NINDS K02NS052192Sep 15, 2005 - Jun 30, 2010
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH/NCRR M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials
    Collapse Global Health
    Collapse Websites
    Collapse In The News

    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. Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr E, Nagarajan SS. Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions. Sci Rep. 2018 Jan 19; 8(1):1274. PMID: 29352208.
      View in: PubMed
    2. 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, Boddaert N, Cantagrel V, Lewis AM, Scaglia F. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 Jan 13. PMID: 29330883.
      View in: PubMed
    3. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 Jan; 39(1):23-39. PMID: 29068161.
      View in: PubMed
    4. Olney NT, Alquezar C, Ramos EM, Nana AL, Fong JC, Karydas AM, Taylor JB, Stephens ML, Argouarch AR, Van Berlo VA, Dokuru DR, Sherr E, Jicha GA, Dillon WP, Desikan RS, De May M, Seeley WW, Coppola G, Miller BL, Kao AW. Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia. Acta Neuropathol. 2017 11; 134(5):813-816. PMID: 28828560.
      View in: PubMed
    5. 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 E. Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. Radiology. 2018 01; 286(1):217-226. PMID: 28786752.
      View in: PubMed
    6. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017 Jun; 3(3):e148. PMID: 28589176.
      View in: PubMed
    7. Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr E, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017 Apr; 49(4):511-514. PMID: 28250454.
      View in: PubMed
    8. 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, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr E, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2017 01 31; 49(2):317. PMID: 28138155.
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    9. Edwards TJ, Sherr E, Barkovich AJ, Richards LJ. Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain. 2016 11 01; 139(11):e65. PMID: 27474217.
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    10. Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr E, Garner JP, Capitanio JP, Parker KJ. Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta). PLoS One. 2016; 11(10):e0165401. PMID: 27788195.
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    11. Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr E, Richards LJ. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Rep. 2016 10 11; 17(3):735-747. PMID: 27732850.
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    12. 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, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr E, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016 10; 48(10):1185-92. PMID: 27571260.
      View in: PubMed
    13. Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 2016 08; 46(8):2734-48. PMID: 27207092.
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    14. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr E. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 Nov; 170(11):2943-2955. PMID: 27410714.
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    15. 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 E, Mukherjee P. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Hum Brain Mapp. 2016 08; 37(8):2833-48. PMID: 27219475.
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    16. 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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    17. Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr E, Nagarajan SS. The Contribution of the Corpus Callosum to Language Lateralization. J Neurosci. 2016 Apr 20; 36(16):4522-33. PMID: 27098695; PMCID: PMC4837685 [Available on 10/20/16].
    18. 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 DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr E. 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 05; 98(5):963-970. PMID: 27087320; PMCID: PMC4863473 [Available on 11/05/16].
    19. Bassuk AG, Sherr E. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. J Neurogenet. 2015; 29(4):174-7. PMID: 26727662; PMCID: PMC4813514.
    20. 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 E, 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; 73(1):20-30. PMID: 26629640.
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    21. Uzgil B, Sherr E. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. 2016 Jan 05; 86(1):15-6. PMID: 26581303.
      View in: PubMed
    22. Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr E, Roberts TP. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage Clin. 2015; 9:50-7. PMID: 26413471; PMCID: PMC4543079.
    23. Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr E, 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; PMCID: PMC4807911.
    24. Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr E, Mukherjee P. White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation. PLoS One. 2015; 10(6):e0123656. PMID: 26115451; PMCID: PMC4482659.
    25. Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr E, 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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    26. 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 E. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol. 2015 Jun; 2(6):623-35. PMID: 26125038; PMCID: PMC4479523.
    27. 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 E, Berman JI, Roberts TP. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cereb Cortex. 2016 May; 26(5):1957-64. PMID: 25678630.
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    28. Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr E, Marco E. Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile. Neuropsychology. 2015 Sep; 29(5):751-758. PMID: 25528608; PMCID: PMC4476955.
    29. Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr E. 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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    30. Nieh SE, Sherr E. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014 Oct; 11(4):796-806. PMID: 25266964; PMCID: PMC4391391.
    31. Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr E, 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.
    32. 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 01; 77(9):785-93. PMID: 25064419.
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    33. Tunovic S, Barkovich J, Sherr E, 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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    34. 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 E, Mukherjee P. Aberrant white matter microstructure in children with 16p11.2 deletions. J Neurosci. 2014 Apr 30; 34(18):6214-23. PMID: 24790192.
      View in: PubMed
    35. 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. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 01; 94(5):734-44. PMID: 24726473; PMCID: PMC4067551.
    36. Edwards TJ, Sherr E, 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.
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    37. Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr E, 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.
    38. 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 E. 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.
    39. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. PMID: 23934111; PMCID: PMC3773011.
    40. Sherr E, 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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    41. The epilepsy phenome/genome project. Clin Trials. 2013 Aug; 10(4):568-86. PMID: 23818435.
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    42. Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr E, 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.
    43. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr E, 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.
    44. Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr E. 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.
    45. 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 E, Gleeson JG. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 07; 92(3):392-400. PMID: 23453666; PMCID: PMC3591854.
    46. 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.
    47. Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr E, 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.
    48. Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr E, 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.
    49. Zufferey F, Sherr E, 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.
    50. Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr E, 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.
    51. 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 E. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One. 2012; 7(8):e39804. PMID: 22870191; PMCID: PMC3411722.
    52. 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 Jun 06; 13:121. PMID: 22672699; PMCID: PMC3403908.
    53. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012 Aug; 53(8):1457-67. PMID: 22642626; PMCID: PMC3418423.
    54. 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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    55. Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr E, 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.
    56. 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 E, 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.
    57. Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr E, Slavotinek AM. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011 Dec 28; 12:172. PMID: 22204637; PMCID: PMC3262754.
    58. Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr E, 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.
    59. Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr E. Laterality of brain and ocular lesions in Aicardi syndrome. Pediatr Neurol. 2011 Sep; 45(3):149-54. PMID: 21824560; PMCID: PMC3153732.
    60. 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 E. 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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    61. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr E, 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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    62. Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr E. Diffusion tensor imaging of Aicardi syndrome. Pediatr Neurol. 2010 Aug; 43(2):87-91. PMID: 20610117; PMCID: PMC3116113.
    63. Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr E, Mukherjee P. Microstructural correlations of white matter tracts in the human brain. Neuroimage. 2010 Jun; 51(2):531-41. PMID: 20206699; PMCID: PMC2856800.
    64. Sherr E. Introduction. Semin Pediatr Neurol. 2009 Sep; 16(3):99-100. PMID: 19778706.
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    65. Glass HC, Shaw GM, Ma C, Sherr E. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A. 2008 Oct 01; 146A(19):2495-500. PMID: 18642362; PMCID: PMC2574703.
    66. Mueller S, Sherr E. 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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    67. Kara S, Sherr E, 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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    68. Maccotta L, Sherr E. 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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    69. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr E. 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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    70. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr E, 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.
    71. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr E, 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.
    72. 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 E, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B. 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.
    73. Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr E. 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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    74. Hetts SW, Sherr E, 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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    75. 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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    76. 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 01; 133A(2):197-201. PMID: 15633176.
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    77. Sherr E. 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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    78. Takanashi J, Barkovich AJ, Dillon WP, Sherr E, 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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    79. Misawa H, Sherr E, 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 01; 22(23):10088-93. PMID: 12451109.
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    80. Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr E, 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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    81. Sherr E, 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.
    82. Saxon A, Giorgi JV, Sherr E, 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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    83. 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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    84. Kimata H, Sherr E, 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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    85. 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 01; 168(1):55-71. PMID: 3294336; PMCID: PMC2189392.
    86. Sherr E, 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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    87. Sherr E, 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 01; 138(11):3836-43. PMID: 3108377.
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    88. Sherr E, 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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