| Year |
Citation |
Score |
| 2023 |
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, ... ... Sherr E, et al. Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. Journal of Medical Genetics. PMID 37857482 DOI: 10.1136/jmg-2023-109293 |
0.749 |
|
| 2023 |
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, ... ... Sherr E, et al. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. American Journal of Human Genetics. PMID 37421948 DOI: 10.1016/j.ajhg.2023.06.008 |
0.722 |
|
| 2023 |
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, ... ... Sherr E, et al. -related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics. PMID 37185208 DOI: 10.1136/jmg-2022-108803 |
0.728 |
|
| 2022 |
Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of Human Genetics. PMID 36536096 DOI: 10.1038/s10038-022-01106-0 |
0.761 |
|
| 2022 |
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, ... ... Sherr EH, et al. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570. PMID 36323681 DOI: 10.1038/s41467-022-34264-y |
0.716 |
|
| 2022 |
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, ... ... Sherr EH, et al. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell. PMID 36228617 DOI: 10.1016/j.devcel.2022.09.011 |
0.721 |
|
| 2022 |
Holtz AM, Vancoil 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, ... ... Sherr EH, et al. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35980381 DOI: 10.1016/j.gim.2022.07.005 |
0.722 |
|
| 2022 |
Siafa L, Argilli E, Sherr EH, Myers KA. De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric Neurology. 131: 1-3. PMID 35436645 DOI: 10.1016/j.pediatrneurol.2022.03.005 |
0.729 |
|
| 2021 |
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. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. Journal of Human Genetics. PMID 34400773 DOI: 10.1038/s10038-021-00971-5 |
0.734 |
|
| 2021 |
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, ... ... Sherr E, et al. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics. PMID 34321323 DOI: 10.1136/jmedgenet-2020-107470 |
0.721 |
|
| 2021 |
Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ. Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Molecular Autism. 12: 50. PMID 34238350 DOI: 10.1186/s13229-021-00442-w |
0.684 |
|
| 2021 |
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, ... ... Sherr EH, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. American Journal of Human Genetics. PMID 34186028 DOI: 10.1016/j.ajhg.2021.06.003 |
0.763 |
|
| 2021 |
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, ... ... Sherr EH, et al. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. PMID 34022130 DOI: 10.1016/j.ajhg.2021.04.024 |
0.745 |
|
| 2021 |
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. DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation. Elife. 10. PMID 33945466 DOI: 10.7554/eLife.61618 |
0.763 |
|
| 2021 |
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, ... ... Sherr EH, et al. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American Journal of Human Genetics. PMID 33894126 DOI: 10.1016/j.ajhg.2021.04.004 |
0.75 |
|
| 2021 |
Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. 16p11.2 deletion syndrome. Current Opinion in Genetics & Development. 68: 49-56. PMID 33667823 DOI: 10.1016/j.gde.2021.01.011 |
0.356 |
|
| 2020 |
Simmons RL, Li H, Alten B, Santos MS, Jiang R, Paul B, Lalani SJ, Cortesi A, Parks K, Khandelwal N, Smith-Packard B, Phoong MA, Chez M, Fisher H, Scheuerle AE, ... ... Sherr EH, et al. Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment. Human Mutation. PMID 32906212 DOI: 10.1002/Humu.24109 |
0.32 |
|
| 2020 |
Edwards TJ, Fenlon LR, Dean RJ, Bunt J, Sherr EH, Richards LJ. Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum. Neuroimage. 116868. PMID 32360691 DOI: 10.1016/J.Neuroimage.2020.116868 |
0.395 |
|
| 2020 |
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, ... ... Sherr EH, et al. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. PMID 32135084 DOI: 10.1016/J.Neuron.2020.01.042 |
0.376 |
|
| 2020 |
Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. De novo variants in cause neurodevelopmental disorders associated with corpus callosum abnormalities. Journal of Medical Genetics. PMID 31924697 DOI: 10.1136/Jmedgenet-2019-106193 |
0.418 |
|
| 2019 |
Matsuzaki J, Berman JI, Blaskey L, Kuschner ES, Gaetz L, Mukherjee P, Buckner RL, Nagarajan SS, Chung WK, Sherr EH, Roberts TPL. Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. Biological Psychiatry. Cognitive Neuroscience and Neuroimaging. PMID 32033921 DOI: 10.1016/J.Bpsc.2019.11.005 |
0.324 |
|
| 2019 |
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, ... ... Sherr EH, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868. PMID 31585109 DOI: 10.1016/J.Ajhg.2019.09.005 |
0.73 |
|
| 2019 |
Hinkley LBN, Dale C, Luks TL, Findlay AM, Bukshpun P, Pojman N, Thieu T, Chung WK, Berman J, Roberts TPL, Mukherjee P, Sherr EH, Nagarajan SS. Sensorimotor cortical oscillations during movement preparation in 16p11.2 deletion carriers. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 31270155 DOI: 10.1523/Jneurosci.3001-17.2019 |
0.738 |
|
| 2018 |
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, ... ... Sherr EH, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. American Journal of Human Genetics. 103: 752-768. PMID 30388402 DOI: 10.1016/J.Ajhg.2018.10.006 |
0.461 |
|
| 2018 |
Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH. Deletion of Tmtc4 activates the unfolded protein response causing postnatalhearing loss. The Journal of Clinical Investigation. PMID 30188326 DOI: 10.1172/Jci97498 |
0.321 |
|
| 2018 |
Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatric Neurology. PMID 30174244 DOI: 10.1016/J.Pediatrneurol.2018.04.012 |
0.309 |
|
| 2018 |
Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ. Cerebrospinal fluid vasopressin and symptom severity in children with autism. Annals of Neurology. PMID 30152888 DOI: 10.1002/Ana.25314 |
0.331 |
|
| 2018 |
Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction. Bmc Medical Genomics. 11: 50. PMID 29801487 DOI: 10.1186/S12920-018-0362-X |
0.392 |
|
| 2018 |
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, et al. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biological Psychiatry. PMID 29778275 DOI: 10.1016/J.Biopsych.2018.02.1176 |
0.394 |
|
| 2018 |
Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP. Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates. Science Translational Medicine. 10. PMID 29720452 DOI: 10.1126/Scitranslmed.Aam9100 |
0.327 |
|
| 2018 |
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, ... ... Sherr EH, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/Humu.23400 |
0.411 |
|
| 2018 |
Gstrein T, Edwards A, Přistoupilová 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, ... ... Sherr E, et al. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nature Neuroscience. PMID 29311744 DOI: 10.1038/S41593-017-0053-5 |
0.371 |
|
| 2017 |
Marsh AP, 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, ... ... Sherr EH, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome. Human Mutation. PMID 29068161 DOI: 10.1002/Humu.23361 |
0.419 |
|
| 2017 |
Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH. Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. Radiology. 162934. PMID 28786752 DOI: 10.1148/Radiol.2017162934 |
0.35 |
|
| 2017 |
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, et al. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology. Genetics. 3: e148. PMID 28589176 DOI: 10.1212/Nxg.0000000000000148 |
0.305 |
|
| 2017 |
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, ... ... Sherr EH, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. PMID 28250454 DOI: 10.1038/Ng.3794 |
0.366 |
|
| 2017 |
Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, Jonghe PD, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, ... ... Sherr E, et al. Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) American Journal of Human Genetics. 100: 179. PMID 28061363 DOI: 10.1016/J.Ajhg.2016.12.012 |
0.319 |
|
| 2016 |
Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Reports. 17: 735-747. PMID 27732850 DOI: 10.1016/J.Celrep.2016.09.033 |
0.319 |
|
| 2016 |
Anguera JA, Brandes-Aitken AN, Rolle CE, Skinner SN, Desai SS, Bower JD, Martucci WE, Chung WK, Sherr EH, Marco EJ. Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study. Translational Psychiatry. 6: e893. PMID 27648915 DOI: 10.1038/Tp.2016.178 |
0.327 |
|
| 2016 |
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, ... ... Sherr EH, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics. PMID 27571260 DOI: 10.1038/Ng.3661 |
0.309 |
|
| 2016 |
Myers CT, McMahon JM, Schneider AL, Petrovski S, Allen AS, Carvill GL, Zemel M, Saykally JE, LaCroix AJ, Heinzen EL, Hollingsworth G, Nikanorova M, Corbett M, Gecz J, Coman D, ... ... Sherr E, et al. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies American Journal of Human Genetics. 99: 287-298. PMID 27476654 DOI: 10.1016/J.Ajhg.2016.06.003 |
0.397 |
|
| 2016 |
Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. American Journal of Medical Genetics. Part A. PMID 27410714 DOI: 10.1002/Ajmg.A.37820 |
0.455 |
|
| 2016 |
Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Human Brain Mapping. PMID 27219475 DOI: 10.1002/Hbm.23211 |
0.413 |
|
| 2016 |
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, et al. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. American Journal of Medical Genetics. Part A. PMID 27133397 DOI: 10.1002/Ajmg.A.37670 |
0.447 |
|
| 2016 |
Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, ... ... Sherr EH, et al. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. American Journal of Human Genetics. PMID 27087320 DOI: 10.1016/J.Ajhg.2016.03.002 |
0.451 |
|
| 2016 |
Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP. Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers. Ajnr. American Journal of Neuroradiology. PMID 26869473 DOI: 10.3174/Ajnr.A4687 |
0.323 |
|
| 2016 |
Bassuk AG, Sherr EH. A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria. Journal of Neurogenetics. 1-4. PMID 26727662 DOI: 10.3109/01677063.2015.1088847 |
0.322 |
|
| 2015 |
Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurology. Genetics. 1: e16. PMID 27066553 DOI: 10.1212/Nxg.0000000000000014 |
0.385 |
|
| 2015 |
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, ... ... Sherr EH, et al. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. Jama Psychiatry. 1-11. PMID 26629640 DOI: 10.1001/Jamapsychiatry.2015.2123 |
0.339 |
|
| 2015 |
Uzgil B, Sherr EH. Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. Neurology. PMID 26581303 DOI: 10.1212/Wnl.0000000000002227 |
0.367 |
|
| 2015 |
Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage. Clinical. 9: 50-57. PMID 26413471 DOI: 10.1016/J.Nicl.2015.07.006 |
0.354 |
|
| 2015 |
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, ... ... Sherr EH, et al. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Annals of Clinical and Translational Neurology. 2: 623-35. PMID 26125038 DOI: 10.1002/Acn3.198 |
0.409 |
|
| 2015 |
Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation. Plos One. 10: e0123656. PMID 26115451 DOI: 10.1371/Journal.Pone.0123656 |
0.312 |
|
| 2015 |
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, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26066539 DOI: 10.1038/Gim.2015.78 |
0.308 |
|
| 2015 |
Jenkins J, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cerebral Cortex (New York, N.Y. : 1991). PMID 25678630 DOI: 10.1093/Cercor/Bhv008 |
0.338 |
|
| 2015 |
Demopoulos C, Yu N, Paul LK, Sherr EH, Marco EJ. Corpus callosum in cognitive and sensory processing: Insights into autism Future Neurology. 10: 147-160. DOI: 10.2217/Fnl.14.70 |
0.407 |
|
| 2014 |
Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH. Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. Molecular Autism. 5: 57. PMID 25874073 DOI: 10.1186/2040-2392-5-57 |
0.747 |
|
| 2014 |
Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 11: 796-806. PMID 25266964 DOI: 10.1007/S13311-014-0301-2 |
0.401 |
|
| 2014 |
Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL. Opposing brain differences in 16p11.2 deletion and duplication carriers. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 11199-211. PMID 25143601 DOI: 10.1523/Jneurosci.1366-14.2014 |
0.388 |
|
| 2014 |
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. American Journal of Medical Genetics. Part A. 164: 1744-9. PMID 24838796 DOI: 10.1002/Ajmg.A.36450 |
0.382 |
|
| 2014 |
Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P. Aberrant white matter microstructure in children with 16p11.2 deletions. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 6214-23. PMID 24790192 DOI: 10.1523/Jneurosci.4495-13.2014 |
0.378 |
|
| 2014 |
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, ... ... Sherr E, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/J.Ajhg.2014.03.015 |
0.363 |
|
| 2014 |
Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain : a Journal of Neurology. 137: 1579-613. PMID 24477430 DOI: 10.1093/Brain/Awt358 |
0.465 |
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| 2013 |
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, ... ... Sherr EH, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/Journal.Pgen.1003823 |
0.375 |
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| 2013 |
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, ... ... Sherr EH, ... ... Sherr EH, et al. De novo mutations in epileptic encephalopathies. Nature. 501: 217-21. PMID 23934111 DOI: 10.1038/Nature12439 |
0.375 |
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| 2013 |
Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S. Neurodevelopmental disorders and genetic testing: current approaches and future advances. Annals of Neurology. 74: 164-70. PMID 23775934 DOI: 10.1002/Ana.23950 |
0.337 |
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| 2013 |
Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. American Journal of Medical Genetics. Part A. 161: 1523-30. PMID 23704059 DOI: 10.1002/Ajmg.A.35969 |
0.416 |
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| 2013 |
Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⺠tf/J mouse model of autism. Plos One. 8: e61829. PMID 23613947 DOI: 10.1371/Journal.Pone.0061829 |
0.771 |
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| 2013 |
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, ... ... Sherr EH, et al. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400. PMID 23453666 DOI: 10.1016/J.Ajhg.2013.02.004 |
0.401 |
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| 2013 |
Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P. The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 70: 340-55. PMID 23268782 DOI: 10.1016/J.Neuroimage.2012.12.031 |
0.38 |
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| 2013 |
Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Autism traits in individuals with agenesis of the corpus callosum. Journal of Autism and Developmental Disorders. 43: 1106-18. PMID 23054201 DOI: 10.1007/S10803-012-1653-2 |
0.383 |
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| 2012 |
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, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics. 49: 660-8. PMID 23054248 DOI: 10.1136/Jmedgenet-2012-101203 |
0.442 |
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| 2012 |
Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH. The role of corpus callosum development in functional connectivity and cognitive processing. Plos One. 7: e39804. PMID 22870191 DOI: 10.1371/Journal.Pone.0039804 |
0.66 |
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| 2012 |
Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK. Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum. Journal of the International Neuropsychological Society : Jins. 18: 521-9. PMID 22390821 DOI: 10.1017/S1355617712000045 |
0.645 |
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| 2012 |
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E. So what? Does the test lead to improved health outcomes? Neurology. 78: 440-1; author reply . PMID 22311931 DOI: 10.1212/Wnl.0B013E318248042C |
0.334 |
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| 2012 |
Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Human Mutation. 33: 364-8. PMID 22095910 DOI: 10.1002/Humu.21658 |
0.335 |
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| 2011 |
Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. Bmc Medical Genetics. 12: 172. PMID 22204637 DOI: 10.1186/1471-2350-12-172 |
0.314 |
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| 2011 |
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 77: 1629-35. PMID 21956720 DOI: 10.1212/Wnl.0B013E3182345896 |
0.312 |
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| 2011 |
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, ... ... Sherr E, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 77: 1287-94. PMID 21917775 DOI: 10.1212/Wnl.0B013E3182309F72 |
0.336 |
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| 2011 |
Cabrera MT, Winn BJ, Porco T, Strominger Z, Barkovich AJ, Hoyt CS, Wakahiro M, Sherr EH. Laterality of brain and ocular lesions in Aicardi syndrome. Pediatric Neurology. 45: 149-54. PMID 21824560 DOI: 10.1016/J.Pediatrneurol.2011.04.007 |
0.332 |
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| 2011 |
Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. American Journal of Medical Genetics. Part A. 155: 1865-76. PMID 21739582 DOI: 10.1002/Ajmg.A.34081 |
0.401 |
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| 2011 |
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, ... ... Sherr EH, et al. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 76: 373-82. PMID 21263138 DOI: 10.1212/Wnl.0B013E318208F492 |
0.347 |
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| 2010 |
O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics. Part A. 152: 2145-59. PMID 20683985 DOI: 10.1002/Ajmg.A.33558 |
0.392 |
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| 2010 |
Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH. Diffusion tensor imaging of Aicardi syndrome. Pediatric Neurology. 43: 87-91. PMID 20610117 DOI: 10.1016/J.Pediatrneurol.2010.03.005 |
0.345 |
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| 2010 |
Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P. Microstructural correlations of white matter tracts in the human brain. Neuroimage. 51: 531-41. PMID 20206699 DOI: 10.1016/J.Neuroimage.2010.02.072 |
0.321 |
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| 2009 |
Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Bmj Case Reports. 2009. PMID 21731583 DOI: 10.1136/Bcr.06.2009.1999 |
0.329 |
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| 2009 |
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, ... ... Sherr E, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/Ajmg.A.33025 |
0.378 |
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| 2009 |
Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. Ajnr. American Journal of Neuroradiology. 30: 257-63. PMID 18988682 DOI: 10.3174/Ajnr.A1331 |
0.339 |
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| 2008 |
Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatric Neurology. 38: 363-6. PMID 18410855 DOI: 10.1016/J.Pediatrneurol.2008.01.009 |
0.346 |
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| 2008 |
Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Journal of Medical Genetics. 45: 100-5. PMID 17893116 DOI: 10.1136/Jmg.2007.052324 |
0.328 |
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| 2007 |
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics. 81: 292-303. PMID 17668379 DOI: 10.1086/519999 |
0.324 |
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| 2007 |
Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. American Journal of Medical Genetics. Part A. 143: 1900-5. PMID 17632789 DOI: 10.1002/Ajmg.A.31855 |
0.373 |
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| 2007 |
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, ... ... Sherr EH, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026 |
0.391 |
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| 2007 |
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, et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. Plos Genetics. 3: e80. PMID 17530927 DOI: 10.1371/Journal.Pgen.0030080 |
0.405 |
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| 2007 |
Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nature Reviews. Neuroscience. 8: 287-99. PMID 17375041 DOI: 10.1038/Nrn2107 |
0.679 |
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| 2006 |
Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. Ajr. American Journal of Roentgenology. 187: 1343-8. PMID 17056927 DOI: 10.2214/Ajr.05.0146 |
0.347 |
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| 2006 |
Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. American Journal of Medical Genetics. Part A. 140: 1909-14. PMID 16894541 DOI: 10.1002/Ajmg.A.31399 |
0.365 |
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| 2005 |
Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 65: 1496-8. PMID 16275846 DOI: 10.1212/01.Wnl.0000183066.09239.B6 |
0.334 |
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| 2005 |
Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p Clinical Dysmorphology. 14: 93-96. PMID 15770132 DOI: 10.1097/00019605-200504000-00008 |
0.326 |
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| 2005 |
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism American Journal of Medical Genetics. 133: 197-201. PMID 15633176 DOI: 10.1002/Ajmg.A.30504 |
0.386 |
|
| 2003 |
Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Current Opinion in Pediatrics. 15: 567-71. PMID 14631200 DOI: 10.1097/00008480-200312000-00004 |
0.391 |
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| 2002 |
Misawa H, Sherr EH, Lee DJ, Chetkovich DM, Tan A, Schreiner CE, Bredt DS. Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 10088-93. PMID 12451109 DOI: 10.1523/Jneurosci.22-23-10088.2002 |
0.327 |
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| 1993 |
Sherr EH, Joyce MP, Greene LA. Mammalian myosin I alpha, I beta, and I gamma: new widely expressed genes of the myosin I family. The Journal of Cell Biology. 120: 1405-16. PMID 8449986 DOI: 10.1083/Jcb.120.6.1405 |
0.302 |
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