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Elliott Sherr, MD, PhD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Phone415-514-9306
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    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 
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    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. 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, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 Nov 01; 103(5):752-768. PMID: 30388402.
      View in: PubMed
    2. Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH. Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss. J Clin Invest. 2018 Nov 01; 128(11):5150-5162. PMID: 30188326.
      View in: PubMed
    3. Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ. Cerebrospinal fluid vasopressin and symptom severity in children with autism. Ann Neurol. 2018 Oct; 84(4):611-615. PMID: 30152888.
      View in: PubMed
    4. Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Sahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2018 Sep 14. PMID: 30214071.
      View in: PubMed
    5. Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction. BMC Med Genomics. 2018 May 25; 11(1):50. PMID: 29801487.
      View in: PubMed
    6. Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 May 07. PMID: 30174244.
      View in: PubMed
    7. Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP. Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates. Sci Transl Med. 2018 May 02; 10(439). PMID: 29720452.
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    8. 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, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 Aug 15; 84(4):253-264. PMID: 29778275.
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    9. 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, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May; 39(5):666-675. PMID: 29330883.
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    10. 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. Sci Rep. 2018 01 19; 8(1):1274. PMID: 29352208.
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    11. 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, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. PMID: 29068161.
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    12. Olney NT, Alquezar C, Ramos EM, Nana AL, Fong JC, Karydas AM, Taylor JB, Stephens ML, Argouarch AR, Van Berlo VA, Dokuru DR, Sherr EH, 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.
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    13. 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. 2018 01; 286(1):217-226. PMID: 28786752.
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    14. 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.
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    15. 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 EH, 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.
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    16. 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 EH, 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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    17. 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. 2016 11 01; 139(11):e65. PMID: 27474217.
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    18. Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr EH, 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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    19. 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 Rep. 2016 10 11; 17(3):735-747. PMID: 27732850.
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    20. 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 EH, 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.
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    21. 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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    22. 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. Am J Med Genet A. 2016 11; 170(11):2943-2955. PMID: 27410714.
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    23. 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. Hum Brain Mapp. 2016 08; 37(8):2833-48. PMID: 27219475.
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    24. 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 07; 170(7):1791-8. PMID: 27133397.
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    25. 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; PMCID: PMC4837685 [Available on 10/20/16].
    26. 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 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 05; 98(5):963-970. PMID: 27087320.
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    27. Bassuk AG, Sherr EH. 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.
    28. 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; 73(1):20-30. PMID: 26629640.
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    29. Uzgil B, Sherr EH. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. 2016 Jan 05; 86(1):15-6. PMID: 26581303.
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    30. 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; PMCID: PMC4543079.
    31. 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; PMCID: PMC4807911.
    32. 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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    33. 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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    34. 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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    35. 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. 2016 May; 26(5):1957-64. PMID: 25678630.
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    36. 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):751-758. PMID: 25528608; PMCID: PMC4476955.
    37. 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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    38. Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014 Oct; 11(4):796-806. PMID: 25266964; PMCID: PMC4391391.
    39. 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.
    40. 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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    41. 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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    42. 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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    43. 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 01; 94(5):734-44. PMID: 24726473; PMCID: PMC4067551.
    44. 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.
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    45. 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.
    46. 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.
    47. 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.
    48. 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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    49. Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M. The epilepsy phenome/genome project. Clin Trials. 2013 Aug; 10(4):568-86. PMID: 23818435.
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    50. 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.
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    52. 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.
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    60. 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.
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    64. 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.
    65. 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 Dec 28; 12:172. PMID: 22204637; PMCID: PMC3262754.
    66. 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.
    67. 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.
    68. 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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    71. 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.
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    74. 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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    75. 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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    76. 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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    77. 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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    78. 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.
    79. 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.
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    81. 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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    82. 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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    83. 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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    84. 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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    85. 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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    86. 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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    87. 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 01; 22(23):10088-93. PMID: 12451109.
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    88. 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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    89. 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.
    90. 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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    92. 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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    93. 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.
    94. 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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    95. 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 01; 138(11):3836-43. PMID: 3108377.
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