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Susan Blasér

Simon Fraser University

62H指数
347论文数
1.3W被引数
收录论文 71
发表时间
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Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation
err2025-01-23
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PREAI
errOh, Rachel Youjin; Maier, Michael; Blaser, Susan; Cameron, Jessie; Hawkins, Cynthia; Reversade, Bruno; Yoon, Grace
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Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities
err2024-05-30
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PREAI
errMalik, Prateek; Branson, Helen; Yoon, Grace; Shroff, Manohar; Blaser, Susan; Krishnan, Pradeep
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Midline suprapineal pseudocyst in brain of fetuses with open spina bifida
err2023-08-30
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errOAAI
errKunpalin, Y.; Sichitiu, J.; Krishan, P.; Blaser, S.; Shannon, P.; Van Mieghem, T.; Shinar, S.
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Cochlear Implantation: Systematic Approach to Preoperative Radiologic Evaluation (June, 10.1148/rg.239006, 2023)
err2023-04-01
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PREAI
errHiremath, Shivaprakash B.; Biswas, Asthik; Mndebele, Gopolang; Schramm, David; Ertl-Wagner, Birgit B.; Blaser, Susan I.; Chakraborty, Santanu
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Neuroimaging Features of Biotinidase Deficiency
err2023-02-09
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errOAAI
errBiswas, A.; McNamara, C.; Gowda, V. K.; Gala, F.; Sudhakar, S.; Sidpra, J.; Vari, M. S.; Striano, P.; Blaser, S.; Severino, M.; Batzios, S.; Mankad, K.
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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
err2021-05-16
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errSzot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto-Gonzalez, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles-Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz-Kienle, Halenur; Skladny, Heyko; Miller, Kristen; Riera, Miereia D. T.; Martinez, Silvia A.; Tizzano, Eduardo F.; Dupuis, Lucie; James Stavropoulos, Dimitri; McNiven, Vanda; Mendoza-Londono, Roberto; Elliott, Alison M.; Phillips, Robert S.; Chapman, Gavin; Dunwoodie, Sally L.
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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
err2021-04-14
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errOAAI
errvan der Welle, Reini E. N.; Jobling, Rebekah; Burns, Christian; Sanza, Paolo; van der Beek, Jan A.; Fasano, Alfonso; Chen, Lan; Zwartkruis, Fried J.; Zwakenberg, Susan; Griffin, Edward F.; ten Brink, Corlinda; Veenendaal, Tineke; Liv, Nalan; van Ravenswaaij-Arts, Conny M. A.; Lemmink, Henny H.; Pfundt, Rolph; Blaser, Susan; Sepulveda, Carolina; Lozano, Andres M.; Yoon, Grace; Santiago-Sim, Teresa; Asensio, Cedric S.; Caldwell, Guy A.; Caldwell, Kim A.; Chitayat, David; Klumperman, Judith
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
err2021-04-01
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errRoosendaal, S. D.; van de Brug, T.; Alves, C. A. P. F.; Blaser, S.; Vanderver, A.; Wolf, N., I; van der Knaap, M. S.
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Longitudinal Assessment of Enhancing Foci of Abnormal Signal Intensity in Neurofibromatosis Type 1
err2021-02-04
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errOAAI
errHainc, N.; Wagner, M. W.; Laughlin, S.; Rutka, J.; Hawkins, C.; Blaser, S.; Ertl-Wagner, B. B.
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Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders
err2020-10-29
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errOAAI
errTalenti, G.; Robson, C.; Severino, M. S.; Alves, C. A.; Chitayat, D.; Dahmoush, H.; Smith, L.; Muntoni, F.; Blaser, S. I.; D'Arco, F.
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Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia
err2020-09-01
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errShinar, S.; Blaser, S.; Chitayat, D.; Selvanathan, T.; Chau, V.; Shannon, P.; Agrawal, S.; Ryan, G.; Pruthi, V.; Miller, S. P.; Krishnan, P.; Van Mieghem, T.
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Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses
err2020-08-27
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errBiswas, A.; Krishnan, P.; Amirabadi, A.; Blaser, S.; Mercimek-Andrews, S.; Shroff, M.
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Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice Approaches
err2019-12-01
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errClaessens, Nathalie H. P.; Chau, Vann; de Vries, Linda S.; Jansen, Nicolaas J. G.; Au-Young, Stephanie H.; Stegeman, Raymond; Blaser, Susan; Shroff, Manohar; Haas, Felix; Marini, Davide; Breur, Johannes M. P. J.; Seed, Mike; Benders, Manon J. N. L.; Miller, Steven P.
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Cranioorbital Morphology Caused by Coronal Ring Suture Synostosis
err2019-12-01
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PREAI
errWatts, Guy D.; Antonarakis, Gregory S.; Blaser, Susan, I; Phillips, John H.; Forrest, Christopher R.
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
err2019-11-01
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errMitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel
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Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries
err2019-06-11
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errOAAI
errLim, Jessie Mei; Porayette, Prashob; Marini, Davide; Chau, Vann; Au-Young, Stephanie H.; Saini, Amandeep; Ly, Linh G.; Blaser, Susan; Shroff, Manohar; Branson, Helen M.; Sananes, Renee; Hickey, Edward J.; Gaynor, J. William; Van Arsdell, Glen; Miller, Steven P.; Seed, Mike
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ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegenerationATP6AP2变体损害CNS发育和神经元存活,导致暴发性神经变性
err2019-04-15
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errHirose, Takuo; Cabrera-Socorro, Alfredo; Chitayat, David; Lemonnier, Thomas; Feraud, Olivier; Cifuentes-Diaz, Carmen; Gervasi, Nicolas; Mombereau, Cedric; Ghosh, Tanay; Stoica, Loredana; Al Bacha, Jeanne d'Arc; Yamada, Hiroshi; Lauterbach, Marcel A.; Guillon, Marc; Kaneko, Kiriko; Norris, Joy W.; Siriwardena, Komudi; Blaser, Susan; Teillon, Jeremie; Mendoza-Londono, Roberto; Russeau, Marion; Hadoux, Julien; Ito, Sadayoshi; Corvol, Pierre; Matheus, Maria G.; Holden, Kenton R.; Takei, Kohji; Emiliani, Valentina; Bennaceur-Griscelli, Annelise; Schwartz, Charles E.; Nguyen, Genevieve; Groszer, Matthias
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BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature
err2018-10-20
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errOAAI
errVan Ommeren, Randy H.; Gao, Andrew F.; Blaser, Susan I.; Chitayat, David A.; Hazrati, Lili-Naz
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