May Christine V Malicdan (May C Malicdan, M C Malicdan, McV Malicdan, May Christine Malicdan)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 20

Top Venues

American journal of medical genetics. Part A

Human mutation

Nature communications

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of medical genetics (2023)
Shachar Abudi-Sinreich, Steven P Bodine, Tadafumi Yokoyama, Nathanial J Tolman, Michal Tyrlik, Lauren C Testa, Chen G Han, Heidi M Dorward, Stephen M Wincovitch, Yair Anikster, William A Gahl, Resat Cinar, Bernadette R Gochuico, May Christine V Malicdan
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. Respiratory research 23 (1) (2022)
Shino Shimada, Bobby George Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Kristen L Liedtke, Christina T Lam, Esperanza Font-Montgomery, Charles M Lourenco, Miao He, Dawn S Peck, Luis A Umana, Crescenda L Uhles, Devon Haynes, Patricia G Wheeler, Michael J Bamshad, Deborah A Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M Byers, null null, Fernanda B Scalco, Noelia N Martinez, Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah V Harris, Ingrid Eileen Scheffer, Sergio D Rosenzweig, David R Adams, William A Gahl, May Christine V Malicdan, Kimiyo M Raymond, Hudson H Freeze, Lynne A Wolfe
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Journal of medical genetics (2022)
Carolina Montano, Thomas A Cassini, Shira G Ziegler, Manfred Boehm, Elena-Raluca Nicoli, Joseph A Mindell, Ariane G Soldatos, Irini Manoli, Lynne A Wolfe, Ellen F Macnamara, May Christine V Malicdan, David R Adams, Cynthia J Tifft, Camilo Toro, William A Gahl
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. Journal of inherited metabolic disease 45 (5) (2022)
Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A Wolfe, Joshi Stephen, David R Adams, Thomas C Markello, Cynthia J Tifft, Robert Settlage, William A Gahl, Graydon B Gonsalvez, May Christine V Malicdan, Heather Flanagan-Steet, Yuchin Albert Pan
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Disease models & mechanisms 13 (5) (2020)
Bernardo Blanco-Sánchez, Aurélie Clément, Sarah Josephine Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen F Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, null null, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS genetics 16 (6) (2020)
David S Yarnell, Joseph C Roney, Cláudia Teixeira, Maria I Freitas, Ana Cipriano, Pedro Leuschner, Konrad Krzewski, Joshi Stephen, Heidi Dorward, William A Gahl, Bernadette R Gochuico, Camilo Toro, May Christine V Malicdan, Wendy J Introne
Diagnosis of Chediak Higashi disease in a 67-year old woman. American journal of medical genetics. Part A 182 (12) (2020)
Mariska Davids, Thomas Markello, Lynne A Wolfe, Xenia Chepa-Lotrea, Cynthia J Tifft, William A Gahl, May Christine V Malicdan
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Human mutation 40 (1) (2018)
Joshi Stephen, Sheela Nampoothiri, Srikar Kuppa, Dhanya Yesodharan, Natasha Radhakrishnan, William A Gahl, May Christine V Malicdan
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. American journal of medical genetics. Part A 176 (12) (2018)
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. BMC medical genetics 19 (1) (2018)
Chong Li, Jennifer M Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V Malicdan, Hongbo Wang, Luigi Boccuto, Charles E Schwartz, William A Gahl, Cornelius F Boerkoel, Rong Grace Zhai
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature communications 9 (1) (2018)
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Cover Image, Volume 173A, Number 12, December 2017. American journal of medical genetics. Part A 173 (12) (2018)
Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PloS one 12 (3) (2017)
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos R Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Human mutation 39 (1) (2017)
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A Gahl, Marjan Huizing, Nuria Carrillo, May Christine V Malicdan
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Molecular genetics & genomic medicine 5 (4) (2017)
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Defective ciliogenesis in INPP5E-related Joubert syndrome. American journal of medical genetics. Part A 173 (12) (2017)
Chong Li, Jennifer M Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V Malicdan, Hongbo Wang, Luigi Boccuto, Charles E Schwartz, William A Gahl, Cornelius F Boerkoel, Rong Grace Zhai
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature communications 8 (1) (2017)
Leah Svingen, Mitchell Goheen, Rena Godfrey, Colleen Wahl, Eva H Baker, William A Gahl, May Christine V Malicdan, Camilo Toro
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? Developmental medicine and child neurology 59 (12) (2017)
M A Shahrour, O Staretz-Chacham, D Dayan, J Stephen, A Weech, N Damseh, H Pri Chen, S Edvardson, S Mazaheri, A Saada, null null, E Hershkovitz, A Shaag, M Huizing, B Abu-Libdeh, W A Gahl, A Azem, Y Anikster, T Vilboux, O Elpeleg, May Christine V Malicdan
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clinical genetics 91 (5) (2016)

May Christine V Malicdan.css-eqlu8i{font-size:small;padding-left:4px;} (May C Malicdan, M C Malicdan, McV Malicdan, May Christine Malicdan)

Publication Activity (10 Years)

Top Topics

Top Venues

May Christine V Malicdan (May C Malicdan, M C Malicdan, McV Malicdan, May Christine Malicdan)