Elliott Sherr, MD, PhD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Address675 Nelson Rising Lane, #214B
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 Overview 
    Collapse Overview
    Dr. Elliott H. Sherr is a pediatric neurologist dedicated to caring for children with neurological disorders and to finding the causes and best treatments for these diseases. He has a focus on treating children with MRI-visible disorders of brain development – patients who frequently have epilepsy, developmental delay and autism. He also co-directs UCSF's program for care of children with neurological diseases caused by abnormal metabolism, such as phenylketonuria.

    Sherr directs the UCSF Brain Development Research Program, which studies the genetics and biology of autism and epilepsy. His work receives funding from the National Institutes of Health and March of Dimes.

    Sherr graduated from Stanford University with bachelor's degrees in philosophy and biology. He earned his medical degree and a doctorate in neuroscience at Columbia University. At UCSF, he completed a residency in pediatrics a fellowship in child neurology.
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    Collapse Research 
    Collapse Research Activities and Funding
    Cellular and molecular mechanisms underlying DDX3X syndrome
    NIH R01NS120667Jan 1, 2021 - Nov 30, 2025
    Role: Co-Principal Investigator
    4 of 7: Epi4K: Epileptic Encephalopathies Project
    NIH U01NS077364Sep 30, 2011 - Aug 31, 2014
    Role: Principal Investigator
    Gene Discovery in Aicardi Syndrome: A Special Case of Callosal Agenesis
    NIH R21NS062173May 15, 2008 - Dec 31, 2010
    Role: Principal Investigator
    ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
    NIH R01NS058721Mar 1, 2008 - Apr 30, 2026
    Role: Principal Investigator
    Genetic Etiologies of Agenesis of the Corpus Callosum
    NIH K02NS052192Sep 15, 2005 - Jun 30, 2010
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials
    Collapse Academic Senate

    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. medRxiv. 2024 Oct 30. Le C, Argilli E, George E, Kalayci T, Uyguner ZO, Karaman B, Demirören T, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Pierron L, De Sainte-Agathe JM, Durr A, Sherr EH. PMID: 39502664; PMCID: PMC11537320.
      View in: PubMed   Mentions:
    2. Modulating the unfolded protein response with ISRIB mitigates cisplatin ototoxicity. Sci Rep. 2024 09 27; 14(1):22382. Li J, Rouse SL, Matthews IR, Park Y, Eltawil Y, Sherr EH, Chan DK. PMID: 39333235; PMCID: PMC11437005.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    3. Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Sci Adv. 2024 Jul 12; 10(28):eadk5462. Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. PMID: 38985877; PMCID: PMC11235169.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    4. Discovering the gene-brain-behavior link in autism via generative machine learning. Sci Adv. 2024 Jun 14; 10(24):eadl5307. Kundu S, Sair H, Sherr EH, Mukherjee P, Rohde GK. PMID: 38865470; PMCID: PMC11168471.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    5. Modulating the Unfolded Protein Response with ISRIB Mitigates Cisplatin Ototoxicity. bioRxiv. 2024 Jun 10. Li J, Rouse SL, Matthews IR, Sherr EH, Chan DK. PMID: 37905009; PMCID: PMC10614842.
      View in: PubMed   Mentions: 1  
    6. Noise induces intercellular Ca 2+ signaling waves and the unfolded protein response in the hearing cochlea. bioRxiv. 2024 Jun 08. Park Y, Li J, Ismail Mohamad N, Matthews IR, Santra P, Sherr EH, Chan DK. PMID: 38895437; PMCID: PMC11185706.
      View in: PubMed   Mentions:
    7. Diverse childhood neurologic disorders and outcomes following fetal neurologic consultation. Semin Fetal Neonatal Med. 2024 Feb; 29(1):101524. Gano D, Pardo AC, Glenn OA, Sherr E. PMID: 38609800.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. PMID: 38565148; PMCID: PMC11080278.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder. Mol Psychiatry. 2024 Aug; 29(8):2568-2570. Clarke L, Gesundheit N, Sherr EH, Hardan AY, Parker KJ. PMID: 38454082; PMCID: PMC11380037.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. J Med Genet. 2024 Feb 21; 61(3):244-249. Heide S, Argilli E, Valence S, Boutaud L, Roux N, Mignot C, Nava C, Keren B, Giraudat K, Faudet A, Gerasimenko A, Garel C, Blondiaux E, Rastetter A, Grevent D, Le C, Mackenzie L, Richards L, Attié-Bitach T, Depienne C, Sherr E, Héron D. PMID: 37857482.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. TMTC4 is a hair cell-specific human deafness gene. JCI Insight. 2023 Dec 22; 8(24). Li J, Choi BY, Eltawil Y, Ismail Mohamad N, Park Y, Matthews IR, Han JH, Kim BJ, Sherr EH, Chan DK. PMID: 37943620; PMCID: PMC10807715.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    12. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37872195; PMCID: PMC10593851.
      View in: PubMed   Mentions:
    13. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. PMID: 37873196; PMCID: PMC10593084.
      View in: PubMed   Mentions:
    14. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Commun. 2023; 5(5):fcad222. Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymus F, Scantlebury MH, Yesil G, Rosenfeld JA, Türkyilmaz A, Sager SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. PMID: 37794925; PMCID: PMC10546953.
      View in: PubMed   Mentions: 1  
    15. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023 08 03; 110(8):1356-1376. Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D, TMEM63B collaborators, Genomics England Research Consortium, Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. PMID: 37421948; PMCID: PMC10432263.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    16. The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders. Trends Mol Med. 2023 09; 29(9):726-739. Gadek M, Sherr EH, Floor SN. PMID: 37422363.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    17. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37236975; PMCID: PMC10220040.
      View in: PubMed   Mentions: 12  
    18. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genet Med. 2023 08; 25(8):100885. Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. PMID: 37165955.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    19. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. PMID: 37185208; PMCID: PMC10579487.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    20. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372. Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB, Genomics England Research Consortium, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. PMID: 36074901; PMCID: PMC10319782.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    21. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. J Hum Genet. 2023 Apr; 68(4):291-298. Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H. PMID: 36536096.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    22. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nat Commun. 2022 11 02; 13(1):6570. Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. PMID: 36323681; PMCID: PMC9630267.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    23. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. PMID: 36228617; PMCID: PMC10585591.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    24. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 10; 24(10):2065-2078. Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. PMID: 35980381; PMCID: PMC10765599.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    25. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Neurol Genet. 2022 Oct; 8(5):e200018. Moufawad El Achkar C, Rosen A, Kessler SK, Steinman KJ, Spence SJ, Ramocki M, Marco EJ, Green Snyder L, Spiro JE, Chung WK, Annapurna P, Sherr EH. PMID: 36531974; PMCID: PMC9756306.
      View in: PubMed   Mentions: 3  
    26. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. PMID: 35871307; PMCID: PMC9380164.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    27. Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022 06; 190(2):222-230. Chung WK, Berg JS, Botkin JR, Brenner SE, Brosco JP, Brothers KB, Currier RJ, Gaviglio A, Kowtoniuk WE, Olson C, Lloyd-Puryear M, Saarinen A, Sahin M, Shen Y, Sherr EH, Watson MS, Hu Z. PMID: 35838066; PMCID: PMC9796120.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansPHPublic Health
    28. De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatr Neurol. 2022 06; 131:1-3. Siafa L, Argilli E, Sherr EH, Myers KA. PMID: 35436645; PMCID: PMC10257559.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    29. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. J Hum Genet. 2022 Feb; 67(2):95-101. Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L. PMID: 34400773; PMCID: PMC10256137.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    30. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022 07; 59(7):697-705. Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. PMID: 34321323; PMCID: PMC10256139.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    31. Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Mol Autism. 2021 07 08; 12(1):50. Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ. PMID: 34238350; PMCID: PMC8268173.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    32. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. PMID: 34186028; PMCID: PMC8387284.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimals
    33. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082. Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M, Care4Rare Canada Consortium, Genomics England Research Consortium, Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. PMID: 34022130; PMCID: PMC8206390.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    34. DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation. Elife. 2021 05 04; 10. Morcom L, Edwards TJ, Rider E, Jones-Davis D, Lim JW, Chen KS, Dean RJ, Bunt J, Ye Y, Gobius I, Suárez R, Mandelstam S, Sherr EH, Richards LJ. PMID: 33945466; PMCID: PMC8137145.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
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    78. 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, Simons VIP consortium. PMID: 27207092.
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    79. 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, Simons VIP Consortium. PMID: 27410714.
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    80. 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; PMCID: PMC6867519.
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    81. 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.
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    82. 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; PMCID: PMC4837685.
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    83. 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; PMCID: PMC4863473.
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    85. 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; PMCID: PMC4813514.
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    87. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. 2016 Jan 05; 86(1):15-6. Uzgil B, Sherr EH. PMID: 26581303.
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    89. 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; PMCID: PMC4807911.
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    91. 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, Simons VIP consortium. PMID: 26066539; PMCID: PMC7263044.
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    92. 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; PMCID: PMC4479523.
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    96. 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; PMCID: PMC4476955.
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    97. 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; PMCID: PMC4396809.
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    98. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014 Oct; 11(4):796-806. Nieh SE, Sherr EH. PMID: 25266964; PMCID: PMC4391391.
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    99. 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, Simons VIP Consortium. PMID: 25143601; PMCID: PMC4138332.
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    101. 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.
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    102. 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, Simons VIP Consortium. PMID: 24790192; PMCID: PMC6608115.
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    103. 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, University of Washington Center for Mendelian Genomics, Bamshad MJ. PMID: 24726473; PMCID: PMC4067551.
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    104. 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; PMCID: PMC4032094.
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    105. Autism Spectrum Disorder. Encyclopedia of the Neurological Sciences. 2014 Jan 1; (Archives of General Psychiatry682011):335-338. Marco ME, Sherr SE. .
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    107. 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; PMCID: PMC3868398.
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    108. 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; PMCID: PMC3789824.
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    109. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. Epi4K Consortium, Epilepsy Phenome/Genome Project, 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; PMCID: PMC3773011.
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    110. 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.
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    111. The epilepsy phenome/genome project. Clin Trials. 2013 Aug; 10(4):568-86. EPGP Collaborative, 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; PMCID: PMC5951634.
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    112. 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; PMCID: PMC3689850.
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    113. 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; PMCID: PMC3625480.
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    114. 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; PMCID: PMC3626795.
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    116. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia. 2013 Feb; 54(2):288-95. Winawer MR, Connors R, EPGP Investigators. PMID: 23294289; PMCID: PMC3566298.
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    117. 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; PMCID: PMC3634151.
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    118. Chapter 31 Lissencephalies and Axon Guidance Disorders. Neural Circuit Development and Function in the Brain. 2013 Jan 1; 573-615. Sherr SE, Fernandez FL. .
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    120. 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. Weng WQ, Chen CY, Wang WH, Xu XX, Yang YB, He HQ, Shou SW, Chen CY, Higashi HY, van den Berghe vV, Seuntjens SE, Kernie KS, Bukshpun BP, Sherr SE, Huylebroeck HD, Lu LQ. .
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    123. 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; PMCID: PMC3411722.
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    125. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012 Aug; 53(8):1457-67. Epi4K Consortium. PMID: 22642626; PMCID: PMC3418423.
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    128. 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; PMCID: PMC3293152.
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    129. 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.
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    130. Chapter 43 Global Developmental Delay and Mental Retardation/Intellectual Disability. Swaiman\u0027s Pediatric Neurology. 2012 Jan 1; 554-574. Sherr SE, Shevell SM. .
      View in: Publisher Site   Mentions:
    131. Chapter 23 Disorders of Forebrain Development. Swaiman\u0027s Pediatric Neurology. 2012 Jan 1; 145-159. Sherr SE, Hahn HJ. .
      View in: Publisher Site   Mentions:
    132. 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; PMCID: PMC3262754.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    133. 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; PMCID: PMC3401628.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    134. 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: 83     Fields:    Translation:Humans
    135. 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; PMCID: PMC3179649.
      View in: PubMed   Mentions: 108     Fields:    Translation:Humans
    136. 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; PMCID: PMC3153732.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    137. 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; PMCID: PMC5544936.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    138. 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; PMCID: PMC3127334.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    139. 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; PMCID: PMC3034417.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    140. Agenesis of the corpus callosum. The Causes of Epilepsy. 2011 Jan 1; 305-310. Jones-Davis JD, Lau LY, Sherr SE. .
      View in: Publisher Site   Mentions:
    141. 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: 23     Fields:    Translation:Humans
    142. 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; PMCID: PMC3116113.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    143. 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; PMCID: PMC2856800.
      View in: PubMed   Mentions: 60     Fields:    Translation:Humans
    144. 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, International JSRD Study Group, 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; PMCID: PMC4340070.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    145. Introduction. Semin Pediatr Neurol. 2009 Sep; 16(3):99-100. Sherr EH. PMID: 19778706.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    146. 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; PMCID: PMC3028392.
      View in: PubMed   Mentions: 3     Fields:    
    147. 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; PMCID: PMC3777656.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    148. 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; PMCID: PMC7051413.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansCells
    149. 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; PMCID: PMC7051410.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    150. 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; PMCID: PMC2574703.
      View in: PubMed   Mentions: 80     Fields:    Translation:Humans
    151. 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
    152. 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: 9     Fields:    Translation:Humans
    153. 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:    
    154. 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: 36     Fields:    Translation:HumansCells
    155. 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
    156. 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; PMCID: PMC1950798.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansAnimalsCells
    157. 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; PMCID: PMC1877820.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    158. 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, International JSRD Study Group, Valente EM, Gleeson JG. PMID: 17564967; PMCID: PMC1950920.
      View in: PubMed   Mentions: 72     Fields:    Translation:Humans
    159. 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: 315     Fields:    Translation:Humans
    160. 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: 67     Fields:    Translation:Humans
    161. 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: 8     Fields:    Translation:Humans
    162. 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). Phillips PA, Gobuty GS, Hetts HS, Shevell SM, Majnemer MA, Barkovich BA, Sherr SE. .
      View in: Publisher Site   Mentions:
    163. 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: 16     Fields:    Translation:HumansCells
    164. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-96. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. PMID: 15770132.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    165. 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
    166. 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: 48  Translation:HumansAnimals
    167. 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; PMCID: PMC7975809.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    168. 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: 22     Fields:    Translation:HumansCells
    169. Mental Retardation. Encyclopedia of the Neurological Sciences. 2003 Jan 1; (Am. J. Med. Genet.851999):114-118. Sherr SE, Ferriero FD. .
      View in: Publisher Site   Mentions:
    170. 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; PMCID: PMC6758732.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    171. Menkes Disease Phenotypes in Heterozygotes. Pediatric Research. 1999 Apr 1; 45(7):139-139. Kostiner KD, Peters PK, Das DS, Dudlicek DL, Ominsky OS, Barkovich BJ, Chamlin CS, Williams WM, Sherr SE, Bass BN, Weisiger WK, Packman PS. .
      View in: Publisher Site   Mentions:
    172. 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: 9     Fields:    Translation:HumansAnimals
    173. 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; PMCID: PMC2119747.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    174. 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: 11     Fields:    Translation:HumansCells
    175. 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
    176. 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: 12     Fields:    Translation:HumansCells
    177. 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; PMCID: PMC2189392.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    178. 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
    179. 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
    180. 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
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