Year |
Citation |
Score |
2023 |
Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Caruso P, Buch K, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM. Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults. Medrxiv : the Preprint Server For Health Sciences. PMID 37987014 DOI: 10.1101/2023.11.11.23298218 |
0.74 |
|
2023 |
Pescosolido MF, Ouyang Q, Liu JS, Morrow EM. Live-Imaging Detection of Multivesicular Body-Plasma Membrane Fusion and Exosome Release in Cultured Primary Neurons. Methods in Molecular Biology (Clifton, N.J.). 2683: 213-220. PMID 37300778 DOI: 10.1007/978-1-0716-3287-1_17 |
0.433 |
|
2021 |
Pescosolido MF, Ouyang Q, Liu JS, Morrow EM. Loss of Christianson Syndrome Na+/H+ Exchanger 6 () Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 34526390 DOI: 10.1523/JNEUROSCI.1244-20.2021 |
0.564 |
|
2021 |
Lizarraga SB, Ma L, Maguire AM, van Dyck LI, Wu Q, Ouyang Q, Kavanaugh BC, Nagda D, Livi LL, Pescosolido MF, Schmidt M, Alabi S, Cowen MH, Brito-Vargas P, Hoffman-Kim D, et al. Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies. Science Translational Medicine. 13. PMID 33568516 DOI: 10.1126/scitranslmed.aaw0682 |
0.741 |
|
2019 |
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Complex Neurological Phenotype in Female Carriers of Mutations. Molecular Neuropsychiatry. 5: 98-108. PMID 31192222 DOI: 10.1159/000496341 |
0.735 |
|
2018 |
Pruett B, Pescosolido M, Best C, Bradley R, Marsland H, Morrow E. F46. Brain MRI Morphometry Changes Associated With Na+/H+ Exchanger 6 (NHE6) Mutations in Christianson Syndrome (CS) Biological Psychiatry. 83: S255. DOI: 10.1016/J.Biopsych.2018.02.659 |
0.757 |
|
2017 |
Xu M, Ouyang Q, Gong J, Pescosolido MF, Pruett BS, Mishra S, Schmidt M, Jones RN, Gamsiz Uzun ED, Lizarraga SB, Morrow EM. Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome. Eneuro. 4. PMID 29349289 DOI: 10.1523/ENEURO.0388-17.2017 |
0.712 |
|
2015 |
Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 12: 553-71. PMID 26105128 DOI: 10.1007/S13311-015-0363-9 |
0.727 |
|
2014 |
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. Journal of Medical Genetics. 51: 587-9. PMID 25057125 DOI: 10.1136/Jmedgenet-2014-102444 |
0.754 |
|
2014 |
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Annals of Neurology. 76: 581-93. PMID 25044251 DOI: 10.1002/Ana.24225 |
0.772 |
|
2013 |
Viscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. Plos One. 8: e67797. PMID 23861807 DOI: 10.1371/Journal.Pone.0067797 |
0.687 |
|
2013 |
Pescosolido MF, Gamsiz ED, Nagpal S, Morrow EM. Distribution of disease-associated copy number variants across distinct disorders of cognitive development. Journal of the American Academy of Child and Adolescent Psychiatry. 52: 414-430.e14. PMID 23582872 DOI: 10.1016/J.Jaac.2013.01.003 |
0.576 |
|
2013 |
Minhas HM, Pescosolido MF, Schwede M, Piasecka J, Gaitanis J, Tantravahi U, Morrow EM. An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma. American Journal of Medical Genetics. Part A. 161: 787-91. PMID 23495067 DOI: 10.1002/Ajmg.A.35841 |
0.713 |
|
2013 |
Dickstein DP, Pescosolido MF, Reidy BL, Galvan T, Kim KL, Seymour KE, Laird AR, Di Martino A, Barrett RP. Developmental meta-analysis of the functional neural correlates of autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry. 52: 279-289.e16. PMID 23452684 DOI: 10.1016/J.Jaac.2012.12.012 |
0.356 |
|
2012 |
Pescosolido MF, Yang U, Sabbagh M, Morrow EM. Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. Dialogues in Clinical Neuroscience. 14: 239-52. PMID 23226950 |
0.558 |
|
2012 |
Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. American Journal of Medical Genetics. Part A. 158: 50-8. PMID 22052655 DOI: 10.1002/Ajmg.A.34290 |
0.706 |
|
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