Thomas A Ravenscroft, Ph.D. - Publications

Affiliations: 
2016-2021 Baylor College of Medicine, Houston, TX 
 2021- HHMI Janelia Farm Campus 
Area:
Drosophila Neurobiology

14 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, et al. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics. PMID 34314705 DOI: 10.1016/j.ajhg.2021.06.019  1
2021 Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, et al. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113007 DOI: 10.1038/s41436-021-01216-8  1
2020 Ravenscroft TA, Janssens J, Lee PT, Tepe B, Marcogliese PC, Makhzami S, Holmes TC, Aerts S, Bellen HJ. voltage-gated sodium channels are only expressed in active neurons and are localized to distal axonal initial segment-like domains. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 32928889 DOI: 10.1523/Jneurosci.0142-20.2020  0.32
2020 Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021  1
2019 Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. American Journal of Human Genetics. PMID 31607425 DOI: 10.1016/J.Ajhg.2019.09.013  1
2017 Evers BM, Rodriguez-Navas C, Tesla RJ, Prange-Kiel J, Wasser CR, Yoo KS, McDonald J, Cenik B, Ravenscroft TA, Plattner F, Rademakers R, Yu G, White CL, Herz J. Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency. Cell Reports. 20: 2565-2574. PMID 28903038 DOI: 10.1016/J.Celrep.2017.08.056  1
2016 Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of Aging. PMID 27658901 DOI: 10.1016/J.Neurobiolaging.2016.07.028  1
2016 Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, et al. The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. American Journal of Neurodegenerative Disease. 5: 94-101. PMID 27073747  1
2016 Pottier C, Ravenscroft TA, Sanchez-Contreras M, Rademakers R. Genetics of FTLD: Overview and what else we can expect from genetic studies. Journal of Neurochemistry. PMID 27009575 DOI: 10.1111/Jnc.13622  1
2016 Rodriguez-Porcel F, Lowder L, Rademakers R, Ravenscroft T, Ghetti B, Hagen MC, Espay AJ. Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome. Neurology. PMID 26873956 DOI: 10.1212/Wnl.0000000000002491  1
2015 Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathologica. 130: 77-92. PMID 25943890 DOI: 10.1007/S00401-015-1436-X  1
2015 Kertesz A, Finger E, Murrell J, Chertkow H, Ang LC, Baker M, Ravenscroft T, Rademakers R, Munoz DG. Progressive supranuclear palsy in a family with TDP-43 pathology. Neurocase. 21: 178-84. PMID 24479957 DOI: 10.1080/13554794.2013.878729  1
2013 van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 81: 1332-41. PMID 24027057 DOI: 10.1212/Wnl.0B013E3182A8250C  1
2013 Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R. Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiology of Aging. 34: 2235.e11-3. PMID 23635657 DOI: 10.1016/J.Neurobiolaging.2013.04.004  1
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