Morphological and pathological evolution of the brain microcirculation in aging and Alzheimer's disease von Hunter, Jesse M, Kwan, Jason, Malek-Ahmadi, Michael, Maarouf, Chera L, Kokjohn, Tyler A, Belden, Christine, Sabbagh, Marwan N, Beach, Thomas G, Roher, Alex E

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Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review von Gurusamy, Umamaheswaran, Ramadesikan, Swetha, Marhabaie, Mohammad, Colwell, Caitlyn M, Hunter, Jesse M, Leung, Marco L, Mardis, Elaine R, White, Peter, Manickam, Murugu, Wilson, Richard K, Koboldt, Daniel C

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Early autophagic response in a novel knock-in model of Huntington disease von Heng, Mary Y., Duong, Duy K., Albin, Roger L., Tallaksen-Greene, Sara J., Hunter, Jesse M., Lesort, Mathieu J., Osmand, Alex, Paulson, Henry L., Detloff, Peter J.

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Alzheimer's disease and non-demented high pathology control nonagenarians: comparing and contrasting the biochemistry of cognitively successful aging von Maarouf, Chera L, Daugs, Ian D, Kokjohn, Tyler A, Walker, Douglas G, Hunter, Jesse M, Kruchowsky, Jane C, Woltjer, Randy, Kaye, Jeffrey, Castaño, Eduardo M, Sabbagh, Marwan N, Beach, Thomas G, Roher, Alex E

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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses von Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

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Ubiquitin-proteasome system alterations in a striatal cell model of huntington's disease von Hunter, Jesse M., Lesort, Mathieu, Johnson, Gail V.W.

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy von Balak, Chris D, Hunter, Jesse M, Ahearn, Mary E, Wiley, David, D'urso, Gennaro, Baumbach-Reardon, Lisa

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Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions von Meyer, Alayne P., Ma, Jianing, Brock, Guy, Hashimoto, Sayaka, Cottrell, Catherine E., Mathew, Mariam, Hunter, Jesse M., Leung, Marco L., Corsmeier, Don, Jayaraman, Vijayakumar, Waldrop, Megan A., Flanigan, Kevin M.

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis von Powis, Zöe, Farwell Hagman, Kelly D, Speare, Virginia, Cain, Taylor, Blanco, Kirsten, Mowlavi, Layla S, Mayerhofer, Emily M, Tilstra, David, Vedder, Timothy, Hunter, Jesse M, Tsang, Marilyn, Gonzalez, Lina, Vockley, Gerald, Tang, Sha

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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties von Mathew, Mariam T., Antoniou, Austin, Ramesh, Naveen, Hu, Min, Gaither, Jeffrey, Mouhlas, Danielle, Hashimoto, Sayaka, Humphrey, Maggie, Matthews, Theodora, Hunter, Jesse M., Reshmi, Shalini, Schultz, Matthew, Lee, Kristy, Pfau, Ruthann, Cottrell, Catherine, McBride, Kim L., Navin, Nicholas E., Chaudhari, Bimal P., Leung, Marco L.

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Cerebral blood flow in Alzheimer's disease von Roher, Alex E, Debbins, Josef P, Malek-Ahmadi, Michael, Chen, Kewei, Pipe, James G, Maze, Sharmeen, Belden, Christine, Maarouf, Chera L, Thiyyagura, Pradeep, Mo, Hua, Hunter, Jesse M, Kokjohn, Tyler A, Walker, Douglas G, Kruchowsky, Jane C, Belohlavek, Marek, Sabbagh, Marwan N, Beach, Thomas G

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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases von Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, Saipradeep, V. G., Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen

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Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome von Ramadesikan, Swetha, Showpnil, Iftekhar A., Marhabaie, Mohammad, Daley, Allison, Varga, Elizabeth A., Gurusamy, Umamaheswaran, Pastore, Matthew T., Sites, Emily R., Manickam, Murugu, Bartholomew, Dennis W., Hunter, Jesse M., White, Peter, Wilson, Richard K., Stottmann, Rolf W., Koboldt, Daniel C.

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Macrophage-mediated degradation of beta-amyloid via an apolipoprotein E isoform-dependent mechanism von Zhao, Lingzhi, Lin, Suizhen, Bales, Kelly R, Gelfanova, Valentina, Koger, Deanna, Delong, Cynthia, Hale, John, Liu, Feng, Hunter, Jesse M, Paul, Steven M

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Inherited and de novo variants extend the etiology of TAOK1 -associated neurodevelopmental disorder von Hunter, Jesse M, Massingham, Lauren J, Manickam, Kandamurugu, Bartholomew, Dennis, Williamson, Rachel K, Schwab, Jennifer L, Marhabaie, Mohammad, Siemon, Amy, de Los Reyes, Emily, Reshmi, Shalini C, Cottrell, Catherine E, Wilson, Richard K, Koboldt, Daniel C

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Chemical characterization of pro-inflammatory amyloid-beta peptides in human atherosclerotic lesions and platelets von Kokjohn, Tyler A., Van Vickle, Gregory D., Maarouf, Chera L., Kalback, Walter M., Hunter, Jesse M., Daugs, Ian D., Luehrs, Dean C., Lopez, John, Brune, Daniel, Sue, Lucia I., Beach, Thomas G., Castaño, Eduardo M., Roher, Alex E.

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Emergence of a seizure phenotype in aged apolipoprotein epsilon 4 targeted replacement mice von Hunter, Jesse M, Cirrito, John R, Restivo, Jessica L, Kinley, Robert D, Sullivan, Patrick M, Holtzman, David M, Koger, Deanna, Delong, Cynthia, Lin, Suizhen, Zhao, Lingzhi, Liu, Feng, Bales, Kelly, Paul, Steven M

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Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification von Hunter, Jesse M., Kiefer, Jeff, Balak, Christopher D., Jooma, Sonya, Ahearn, Mary Ellen, Hall, Judith G., Baumbach-Reardon, Lisa

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Neurochemical profile of dementia pugilistica von Kokjohn, Tyler A, Maarouf, Chera L, Daugs, Ian D, Hunter, Jesse M, Whiteside, Charisse M, Malek-Ahmadi, Michael, Rodriguez, Emma, Kalback, Walter, Jacobson, Sandra A, Sabbagh, Marwan N, Beach, Thomas G, Roher, Alex E

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Role of Molecular Chaperones in G Protein β5/Regulator of G Protein Signaling Dimer Assembly and G Protein βγ Dimer Specificity von Howlett, Alyson C., Gray, Amy J., Hunter, Jesse M., Willardson, Barry M.

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