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Elliott Sherr, MD, PhD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Address675 Nelson Rising Lane
San Francisco CA 94158
Phone415-502-8039
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    Other Positions
    Title(s)UCSF Weill Institute for Neurosciences


    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 - Mar 31, 2010
    Role: Principal Investigator
    ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
    NIH/NINDS R01NS058721Apr 1, 2007 - Nov 30, 2012
    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 - Sep 29, 2006
    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum. Neuroimage. 2020 Apr 29; 116868. Edwards TJ, Fenlon LR, Dean RJ, Bunt J, Sherr EH, Richards LJ. PMID: 32360691.
      View in: PubMed   Mentions:    Fields:    
    2. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Apr 28. Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ. PMID: 32342562.
      View in: PubMed   Mentions:    Fields:    
    3. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 May 06; 106(3):404-420.e8. Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. PMID: 32135084.
      View in: PubMed   Mentions:    Fields:    
    4. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. J Med Genet. 2020 Jul; 57(7):461-465. Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. PMID: 31924697.
      View in: PubMed   Mentions:    Fields:    
    5. Chapter 10 Lissencephalies and axon guidance disorders. . 2020 Jan 1; 223-268. E.H. Sherr, B.L. Johnson-Kerner, L. Fernandez. .
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    6. Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Nov 26. Matsuzaki J, Berman JI, Blaskey L, Kuschner ES, Gaetz L, Mukherjee P, Buckner RL, Nagarajan SS, Chung WK, Sherr EH, Roberts TPL. PMID: 32033921.
      View in: PubMed   Mentions:    Fields:    
    7. Abnormal Auditory Mismatch Fields in Children and Adolescents with 16p11.2 Deletion and Duplication. Biological Psychiatry Cognitive Neuroscience and Neuroimaging. 2019 Nov 1. Junko Matsuzaki, Jeffrey I. Berman, Lisa Blaskey, Emily S. Kuschner, Leah Gaetz, Pratik Mukherjee, Randy L. Buckner, Srikantan S. Nagarajan, Wendy K. Chung, Elliott H. Sherr, Timothy P.L. Roberts, Simons VIP Consortium. .
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    8. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 10 03; 105(4):854-868. Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. PMID: 31585109.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    9. Cerebrospinal fluid vasopressin and symptom severity in children with autism. . 2019 Sep 12. Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ. .
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    10. Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. J Neurosci. 2019 09 11; 39(37):7321-7331. Hinkley LBN, Dale CL, Luks TL, Findlay AM, Bukshpun P, Pojman N, Thieu T, Chung WK, Berman J, Roberts TPL, Mukherjee P, Sherr EH, Nagarajan SS. PMID: 31270155.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    11. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768. 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. PMID: 30388402.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    12. Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss. J Clin Invest. 2018 11 01; 128(11):5150-5162. Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH. PMID: 30188326.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    13. Cerebrospinal fluid vasopressin and symptom severity in children with autism. Ann Neurol. 2018 10; 84(4):611-615. Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ. PMID: 30152888.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    14. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. 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. PMID: 30214071.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    15. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction. BMC Med Genomics. 2018 05 25; 11(1):50. Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH. PMID: 29801487.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56. Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. PMID: 30174244.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates. Sci Transl Med. 2018 05 02; 10(439). 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. PMID: 29720452.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    18. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 08 15; 84(4):253-264. 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. PMID: 29778275.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    19. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675. 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. PMID: 29330883.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    20. Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions. Sci Rep. 2018 01 19; 8(1):1274. Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS. PMID: 29352208.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    21. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci. 2018 02; 21(2):207-217. Gstrein T, Edwards A, Pristoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. PMID: 29311744.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    22. Cover Image, Volume 39, Issue 1. Human Mutation. 2018 Jan 1; 39(1):i-i. Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Heron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart. .
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    23. 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. 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. PMID: 29068161.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    24. 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. 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. PMID: 28828560.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    25. 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. 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. PMID: 28786752.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    26. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017 Jun; 3(3):e148. 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. PMID: 28589176.
      View in: PubMed   Mentions:
    27. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017 Apr; 49(4):511-514. 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. PMID: 28250454.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    28. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2017 01 31; 49(2):317. 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. PMID: 28138155.
      View in: PubMed   Mentions:    Fields:    
    29. 57 Autistic Spectrum Disorders. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 459-471. Deborah G. Hirtz, Ann Wagner, Pauline A. Filipek, Elliott H. Sherr. .
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    30. 26 Disorders of Forebrain Development. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 192-198. Elliott H. Sherr, Jin S. Hahn. .
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    31. 51 Global Developmental Delay and Intellectual Disability. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 418-423. Elliott H. Sherr, Michael I. Shevell. .
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    32. Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain. 2016 11 01; 139(11):e65. Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. PMID: 27474217.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    33. Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta). PLoS One. 2016; 11(10):e0165401. Sclafani V, Del Rosso LA, Seil SK, Calonder LA, Madrid JE, Bone KJ, Sherr EH, Garner JP, Capitanio JP, Parker KJ. PMID: 27788195.
      View in: PubMed   Mentions: 8     Fields:    Translation:Animals
    34. 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. Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ. PMID: 27732850.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    35. Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study. Transl Psychiatry. 2016 09 20; 6(9):e893. Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco EJ. PMID: 27648915.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    36. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016 10; 48(10):1185-92. 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. PMID: 27571260.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    37. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 2016 Aug; 46(8):2734-2748. 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. PMID: 27207092.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    38. 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. Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH. PMID: 27410714.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    39. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Hum Brain Mapp. 2016 08; 37(8):2833-48. 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. PMID: 27219475.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    40. 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. 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. PMID: 27133397.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    41. The Contribution of the Corpus Callosum to Language Lateralization. J Neurosci. 2016 Apr 20; 36(16):4522-33. 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. PMID: 27098695.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    42. 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. 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. PMID: 27087320.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    43. Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers. AJNR Am J Neuroradiol. 2016 Jun; 37(6):1178-84. Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP. PMID: 26869473.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    44. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. J Neurogenet. 2015; 29(4):174-7. Bassuk AG, Sherr EH. PMID: 26727662.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    45. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. 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. PMID: 26629640.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    46. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. 2016 Jan 05; 86(1):15-6. Uzgil B, Sherr EH. PMID: 26581303.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    47. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage Clin. 2015; 9:50-7. Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP. PMID: 26413471.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    48. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet. 2015 Aug; 1(2):e16. 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. PMID: 27066553.
      View in: PubMed   Mentions:
    49. White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation. PLoS One. 2015; 10(6):e0123656. Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. PMID: 26115451.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    50. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. 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. PMID: 26066539.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    51. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol. 2015 Jun; 2(6):623-35. 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. PMID: 26125038.
      View in: PubMed   Mentions: 16     Fields:    
    52. Corpus callosum in cognitive and sensory processing: insights into autism. Future Neurology. 2015 Mar 1; 10(2):147-160. Carly Demopoulos, Nina Yu, Lynn K Paul, Elliott H Sherr, Elysa J Marco. .
      View in: Publisher Site   Mentions:
    53. 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. 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. PMID: 25678630.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    54. Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile. Neuropsychology. 2015 Sep; 29(5):751-758. Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E. PMID: 25528608.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    55. Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. Mol Autism. 2014; 5:57. Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH. PMID: 25874073.
      View in: PubMed   Mentions: 14     Fields:    
    56. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014 Oct; 11(4):796-806. Nieh SE, Sherr EH. PMID: 25266964.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    57. Opposing brain differences in 16p11.2 deletion and duplication carriers. J Neurosci. 2014 Aug 20; 34(34):11199-211. Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL. PMID: 25143601.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    58. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry. 2015 May 01; 77(9):785-93. 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. PMID: 25064419.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCells
    59. 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. Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. PMID: 24838796.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    60. Aberrant white matter microstructure in children with 16p11.2 deletions. J Neurosci. 2014 Apr 30; 34(18):6214-23. 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. PMID: 24790192.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    61. 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. 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. PMID: 24726473.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    62. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014 Jun; 137(Pt 6):1579-613. Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. PMID: 24477430.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimals
    63. Mental Retardation/Intellectual Disability. Encyclopedia of the Neurological Sciences. 2014 Jan 1; (Trends in Genetics252009):1090-1094. S. Esmaeeli-Nieh, E.H. Sherr. .
      View in: Publisher Site   Mentions:
    64. Autism Spectrum Disorder. Encyclopedia of the Neurological Sciences. 2014 Jan 1; (Archives of General Psychiatry682011):335-338. E.J. Marco, E.H. Sherr. .
      View in: Publisher Site   Mentions:
    65. Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum. Brain Connect. 2013; 3(6):547-62. Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P. PMID: 24063289.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    66. 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. 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. PMID: 24098143.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    67. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. 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. PMID: 23934111.
      View in: PubMed   Mentions: 454     Fields:    Translation:Humans
    68. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Ann Neurol. 2013 Aug; 74(2):164-70. Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. PMID: 23775934.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    69. The epilepsy phenome/genome project. Clin Trials. 2013 Aug; 10(4):568-86. 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. PMID: 23818435.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    70. 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. Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. PMID: 23704059.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    71. Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 2013 May; 43(5):1106-18. 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. PMID: 23054201.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    72. 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. Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. PMID: 23613947.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
    73. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 07; 92(3):392-400. 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. PMID: 23453666.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    74. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia. 2013 Feb; 54(2):288-95. Winawer MR, Connors R. PMID: 23294289.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    75. Test-retest reliability of computational network measurements derived from the structural connectome of the human brain. Brain Connect. 2013; 3(2):160-76. Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P. PMID: 23350832.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    76. Chapter 31 Lissencephalies and Axon Guidance Disorders. Neural Circuit Development and Function in the Brain. 2013 Jan 1; 573-615. E.H. Sherr, L. Fernandez. .
      View in: Publisher Site   Mentions:
    77. The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 2013 Apr 15; 70:340-55. Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P. PMID: 23268782.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    78. Dual-Mode Modulation of Smad Signaling by Smad-Interacting Protein Sip1 Is Required for Myelination in the Central Nervous System. Neuron. 2012 Oct 1; 76(2):462. Qinjie Weng, Ying Chen, Haibo Wang, Xiaomei Xu, Bo Yang, Qiaojun He, Weinian Shou, Yan Chen, Yujiro Higashi, Veronique van den Berghe, Eve Seuntjens, Steven G. Kernie, Polina Bukshpun, Elliott H. Sherr, Danny Huylebroeck, Q. Richard Lu. .
      View in: Publisher Site   Mentions:
    79. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. 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. PMID: 23054248.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansCells
    80. Children with autism show reduced somatosensory response: an MEG study. Autism Res. 2012 Oct; 5(5):340-51. Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS. PMID: 22933354.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    81. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One. 2012; 7(8):e39804. 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. PMID: 22870191.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCTClinical Trials
    82. Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics. 2012 Jun 06; 13:121. Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E. PMID: 22672699.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    83. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012 Aug; 53(8):1457-67. PMID: 22642626.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    84. 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.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    85. 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. Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK. PMID: 22390821.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    86. 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. 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. PMID: 22365546.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansAnimalsCells
    87. So what? Does the test lead to improved health outcomes? Neurology. 2012 Feb 07; 78(6):440-1; author reply 441-2. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E. PMID: 22311931.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    88. Chapter 23 Disorders of Forebrain Development. Swaiman\u0027s Pediatric Neurology. 2012 Jan 1; 145-159. Elliott H. Sherr, Jin S. Hahn. .
      View in: Publisher Site   Mentions:
    89. Chapter 43 Global Developmental Delay and Mental Retardation/Intellectual Disability. Swaiman\u0027s Pediatric Neurology. 2012 Jan 1; 554-574. Elliott H. Sherr, Michael I. Shevell. .
      View in: Publisher Site   Mentions:
    90. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011 Dec 28; 12:172. Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. PMID: 22204637.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    91. 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. Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. PMID: 22095910.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    92. 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. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. PMID: 21956720.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    93. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011 Sep 27; 77(13):1287-94. 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. PMID: 21917775.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    94. Laterality of brain and ocular lesions in Aicardi syndrome. Pediatr Neurol. 2011 Sep; 45(3):149-54. Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH. PMID: 21824560.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    95. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76. 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. PMID: 21739582.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    96. Clinical Reasoning: An encephalopathic 3-day-old infant. Neurology. 2011 Jul 05; 77(1):e1-5. Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH. PMID: 21727263.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    97. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82. 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. PMID: 21263138.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    98. Agenesis of the corpus callosum. The Causes of Epilepsy. 2011 Jan 1; 305-310. Dorothy Jones-Davis, Yolanda Lau, Elliott H. Sherr. .
      View in: Publisher Site   Mentions:
    99. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep; 152A(9):2145-59. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. PMID: 20683985.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    100. Diffusion tensor imaging of Aicardi syndrome. Pediatr Neurol. 2010 Aug; 43(2):87-91. Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH. PMID: 20610117.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    101. Microstructural correlations of white matter tracts in the human brain. Neuroimage. 2010 Jun; 51(2):531-41. Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P. PMID: 20206699.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    102. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80. 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. PMID: 19764032.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    103. Introduction. Semin Pediatr Neurol. 2009 Sep; 16(3):99-100. Sherr EH. PMID: 19778706.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    104. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. BMJ Case Rep. 2009; 2009. Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. PMID: 21731583.
      View in: PubMed   Mentions: 1     Fields:    
    105. 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. Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, Wakahiro M, Mukherjee P, Sherr EH. PMID: 19246528.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    106. 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. Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P. PMID: 19001538.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    107. 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. Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. PMID: 18988682.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    108. 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. Glass HC, Shaw GM, Ma C, Sherr EH. PMID: 18642362.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    109. The importance of metabolic testing in the evaluation of intellectual disability. Ann Neurol. 2008 Aug; 64(2):113-4. Mueller S, Sherr EH. PMID: 18756505.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    110. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol. 2008 May; 38(5):363-6. Kara S, Sherr EH, Barkovich AJ. PMID: 18410855.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    111. Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2008 Mar; 4(3):130-1. Maccotta L, Sherr EH. PMID: 18212787.
      View in: PubMed   Mentions: 2     Fields:    
    112. 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. Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. PMID: 17893116.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    113. 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. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. PMID: 17632789.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    114. 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. 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. PMID: 17668379.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansAnimalsCells
    115. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. 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. PMID: 17530927.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    116. 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. 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. PMID: 17564967.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    117. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007 Apr; 8(4):287-99. Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. PMID: 17375041.
      View in: PubMed   Mentions: 169     Fields:    Translation:Humans
    118. 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. Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. PMID: 17056927.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    119. 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. Slavotinek A, Li C, Sherr EH, Chudley AE. PMID: 16894541.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    120. MRI FINDINGS INFORM NEURODEVELOPMENTAL OUTCOMES IN INDIVIDUALS WITH AGENESIS OF THE CORPUS CALLOSUM (ACC): ANALYSIS OF A PROSPECTIVE COHORT. Neuropediatrics. 2006 Jan 1; 37(S 1). A Phillips, S Gobuty, S Hetts, M Shevell, A Majnemer, AJ Barkovich, E Sherr. .
      View in: Publisher Site   Mentions:
    121. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005 Nov 08; 65(9):1496-8. Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. PMID: 16275846.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    122. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-6. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. PMID: 15770132.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    123. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. PMID: 15633176.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    124. 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. Sherr EH. PMID: 14631200.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimals
    125. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 2003 May; 24(5):916-21. Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. PMID: 12748094.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    126. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. PMID: 12654978.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    127. Mental Retardation. Encyclopedia of the Neurological Sciences. 2003 Jan 1; (Am. J. Med. Genet.851999):114-118. Elliott H. Sherr, Donna M. Ferriero. .
      View in: Publisher Site   Mentions:
    128. Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. J Neurosci. 2002 Dec 01; 22(23):10088-93. Misawa H, Sherr EH, Lee DJ, Chetkovich DM, Tan A, Schreiner CE, Bredt DS. PMID: 12451109.
      View in: PubMed   Mentions: 6     Fields:    Translation:AnimalsCells
    129. Menkes Disease Phenotypes in Heterozygotes. Pediatric Research. 1999 Apr 1; 45(7):139-139. D Kostiner, K Peters, S Das, L Dudlicek, S Ominsky, J Barkovich, S Chamlin, M Williams, E Sherr, N Bass, K Weisiger, S Packman. .
      View in: Publisher Site   Mentions:
    130. Mapping of unconventional myosins in mouse and human. Genomics. 1996 Sep 15; 36(3):431-9. 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. PMID: 8884266.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    131. 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. Sherr EH, Joyce MP, Greene LA. PMID: 8449986.
      View in: PubMed   Mentions: 21     Fields:    Translation:AnimalsCells
    132. 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. Saxon A, Giorgi JV, Sherr EH, Kagan JM. PMID: 2787815.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    133. Binding the low affinity Fc epsilon R on B cells suppresses ongoing human IgE synthesis. J Immunol. 1989 Jan 15; 142(2):481-9. Sherr E, Macy E, Kimata H, Gilly M, Saxon A. PMID: 2521348.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    134. Human natural killer (NK) cells produce a late-acting B-cell differentiation activity. J Clin Immunol. 1988 Sep; 8(5):381-9. Kimata H, Sherr EH, Saxon A. PMID: 3263382.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    135. 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. Sherr E, Adelman DC, Saxon A, Gilly M, Wall R, Sidell N. PMID: 3294336.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    136. Functional and phenotypic characterization of human B lymphocyte subsets isolated by unit gravity sedimentation. Int Arch Allergy Appl Immunol. 1988; 85(2):154-60. Sherr EH, Saxon A, Wells JR. PMID: 3257466.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    137. 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. Sherr EH, Stein LD, Dosch HM, Saxon A. PMID: 3108377.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    138. A mechanism for the suppression of ongoing IgE synthesis. Int Arch Allergy Appl Immunol. 1987; 82(3-4):414-6. Sherr EH, Saxon A. PMID: 2952603.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells