Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
Li, Chong, Brazill, Jennifer M., Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V., Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E., Gahl, William A., Boerkoel, Cornelius F., Zhai, R. Grace
Published in Nature communications (02.11.2017)
Published in Nature communications (02.11.2017)
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Journal Article
Using Normalization Process Theory in feasibility studies and process evaluations of complex healthcare interventions: a systematic review
May, Carl R, Cummings, Amanda, Girling, Melissa, Bracher, Mike, Mair, Frances S, May, Christine M, Murray, Elizabeth, Myall, Michelle, Rapley, Tim, Finch, Tracy
Published in Implementation science : IS (07.06.2018)
Published in Implementation science : IS (07.06.2018)
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Journal Article
Rethinking the patient: using Burden of Treatment Theory to understand the changing dynamics of illness
May, Carl R, Eton, David T, Boehmer, Kasey, Gallacher, Katie, Hunt, Katherine, MacDonald, Sara, Mair, Frances S, May, Christine M, Montori, Victor M, Richardson, Alison, Rogers, Anne E, Shippee, Nathan
Published in BMC health services research (26.06.2014)
Published in BMC health services research (26.06.2014)
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Journal Article
Chediak-Higashi syndrome
Talbert, Mackenzie L, Malicdan, May Christine V, Introne, Wendy J
Published in Current opinion in hematology (01.07.2023)
Published in Current opinion in hematology (01.07.2023)
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Journal Article
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
Paull, Daniel, Sevilla, Ana, Zhou, Hongyan, Hahn, Aana Kim, Kim, Hesed, Napolitano, Christopher, Tsankov, Alexander, Shang, Linshan, Krumholz, Katie, Jagadeesan, Premlatha, Woodard, Chris M, Sun, Bruce, Vilboux, Thierry, Zimmer, Matthew, Forero, Eliana, Moroziewicz, Dorota N, Martinez, Hector, Malicdan, May Christine V, Weiss, Keren A, Vensand, Lauren B, Dusenberry, Carmen R, Polus, Hannah, Sy, Karla Therese L, Kahler, David J, Gahl, William A, Solomon, Susan L, Chang, Stephen, Meissner, Alexander, Eggan, Kevin, Noggle, Scott A
Published in Nature methods (01.09.2015)
Published in Nature methods (01.09.2015)
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Journal Article
Pre-Surgery Depression and Confidence to Manage Problems Predict Recovery Trajectories of Health and Wellbeing in the First Two Years following Colorectal Cancer: Results from the CREW Cohort Study
Foster, Claire, Haviland, Joanne, Winter, Jane, Grimmett, Chloe, Chivers Seymour, Kim, Batehup, Lynn, Calman, Lynn, Corner, Jessica, Din, Amy, Fenlon, Deborah, May, Christine M, Richardson, Alison, Smith, Peter W
Published in PloS one (12.05.2016)
Published in PloS one (12.05.2016)
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Journal Article
Translational framework for implementation evaluation and research: a normalisation process theory coding manual for qualitative research and instrument development
May, Carl R, Albers, Bianca, Bracher, Mike, Finch, Tracy L, Gilbert, Anthony, Girling, Melissa, Greenwood, Kathryn, MacFarlane, Anne, Mair, Frances S, May, Christine M, Murray, Elizabeth, Potthoff, Sebastian, Rapley, Tim
Published in Implementation science : IS (22.02.2022)
Published in Implementation science : IS (22.02.2022)
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Journal Article
Autophagy in Lysosomal Myopathies
Malicdan, May Christine V., Nishino, Ichizo
Published in Brain pathology (Zurich, Switzerland) (01.01.2012)
Published in Brain pathology (Zurich, Switzerland) (01.01.2012)
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Journal Article
Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
Nieto-Alamilla, Gustavo, Behan, Molly, Hossain, Mahin, Gochuico, Bernadette R., Malicdan, May Christine V.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Ecological research and management of intermittent rivers: an historical review and future directions
Leigh, Catherine, Boulton, Andrew J., Courtwright, Jennifer L., Fritz, Ken, May, Christine L., Walker, Richard H., Datry, Thibault
Published in Freshwater biology (01.08.2016)
Published in Freshwater biology (01.08.2016)
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Journal Article
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
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Journal Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Montano, Carolina, Cassini, Thomas, Ziegler, Shira G., Boehm, Manfred, Nicoli, Elena‐Raluca, Mindell, Joseph A., Soldatos, Ariane G., Manoli, Irini, Wolfe, Lynne, Macnamara, Ellen F., Malicdan, May Christine V., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A.
Published in Journal of inherited metabolic disease (01.09.2022)
Published in Journal of inherited metabolic disease (01.09.2022)
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Journal Article
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Davids, Mariska, Markello, Thomas, Wolfe, Lynne A., Chepa‐Lotrea, Xenia, Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Sharma, Prashant, Reichert, Marie, Lu, Yan, Markello, Thomas C, Adams, David R, Steinbach, Peter J, Fuqua, Brie K, Parisi, Xenia, Kaler, Stephen G, Vulpe, Christopher D, Anderson, Gregory J, Gahl, William A, Malicdan, May Christine V
Published in PLoS genetics (24.05.2019)
Published in PLoS genetics (24.05.2019)
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Journal Article
Random ‘spot’ urinary metanephrines compared with 24-h-urinary and plasma results in phaeochromocytomas and paragangliomas
Sbardella, Emilia, Maunsell, Zoe, May, Christine J H, Tadman, Michael, James, Tim, Jafar-Mohammadi, Bahram, Isidori, Andrea M, Grossman, Ashley B, Shine, Brian
Published in European journal of endocrinology (01.08.2020)
Published in European journal of endocrinology (01.08.2020)
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Journal Article
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sara J, Kyle, Jennifer, Peirce, Judy L, McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B, Macnamara, Ellen, Huang, Yan, Adams, David R, Toro, Camilo, Gahl, William A, Malicdan, May Christine V, Tifft, Cynthia J, Zink, Erika M, Bloodsworth, Kent J, Stratton, Kelly G, Koeller, David M, Metz, Thomas O, Washbourne, Philip, Westerfield, Monte
Published in PLoS genetics (01.06.2020)
Published in PLoS genetics (01.06.2020)
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Journal Article