Articles with public access mandates - May Christine MalicdanLearn more
Not available anywhere: 7
Review
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
D Paull, A Sevilla, H Zhou, AK Hahn, H Kim, C Napolitano, A Tsankov, ...
Nature methods 12 (9), 885-892, 2015
Mandates: US National Institutes of Health
Review
Glycomics in rare diseases: from diagnosis tomechanism
M Davids, MS Kane, LA Wolfe, C Toro, CJ Tifft, D Adams, X Li, MA Raihan, ...
Translational Research 206, 5-17, 2019
Mandates: US National Institutes of Health
Review
Chediak-Higashi syndrome
ML Talbert, MCV Malicdan, WJ Introne
Current Opinion in Hematology 30 (4), 144-151, 2023
Mandates: US National Institutes of Health
Review
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
S Panneerselvam, J Wang, W Zhu, H Dai, JG Pappas, R Rabin, KJ Low, ...
Clinical genetics 100 (2), 227-233, 2021
Mandates: US National Institutes of Health
Review
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
J Stephen, S Nampoothiri, S Kuppa, D Yesodharan, N Radhakrishnan, ...
American Journal of Medical Genetics Part A 176 (12), 2930-2933, 2018
Mandates: US National Institutes of Health
Review
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy
EA Burke, M Sturgeon, DB Zastrow, L Fernandez, C Prybol, S Marwaha, ...
Journal of neurogenetics 35 (2), 74-83, 2021
Mandates: US National Institutes of Health
Review
Hermansky-Pudlak syndrome: gene therapy for pulmonary fibrosis
G Nieto-Alamilla, M Behan, M Hossain, BR Gochuico, MCV Malicdan
Molecular Genetics and Metabolism 137 (1-2), 187-191, 2022
Mandates: US National Institutes of Health
Available somewhere: 151
Review
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Review
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ...
New England Journal of Medicine 383 (27), 2628-2638, 2020
Mandates: US National Institutes of Health, European Commission
Review
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
Mandates: US National Science Foundation, US National Institutes of Health, Howard …
Review
1, 25-(OH) 2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis
G Nesterova, MC Malicdan, K Yasuda, T Sakaki, T Vilboux, C Ciccone, ...
Clinical Journal of the American Society of Nephrology 8 (4), 649-657, 2013
Mandates: US National Institutes of Health
Review
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
Mandates: US National Institutes of Health
Review
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability
Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ...
The American Journal of Human Genetics 100 (2), 257-266, 2017
Mandates: US National Institutes of Health, European Commission, Federal Ministry of …
Review
A congenital neutrophil defect syndrome associated with mutations in VPS45
T Vilboux, A Lev, MCV Malicdan, AJ Simon, P Järvinen, T Racek, ...
New England Journal of Medicine 369 (1), 54-65, 2013
Mandates: US National Institutes of Health, German Research Foundation
Review
Primary cilium-mediated retinal pigment epithelium maturation is disrupted in ciliopathy patient cells
HL May-Simera, Q Wan, BS Jha, J Hartford, V Khristov, R Dejene, ...
Cell reports 22 (1), 189-205, 2018
Mandates: US National Institutes of Health
Review
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ...
Genetics in Medicine 19 (8), 875-882, 2017
Mandates: US National Institutes of Health
Review
Mutation Update for GNE Gene Variants Associated with GNE Myopathy
FV Celeste, T Vilboux, C Ciccone, JK de Dios, MCV Malicdan, ...
Human mutation 35 (8), 915-926, 2014
Mandates: US National Institutes of Health
Review
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Wellcome …
Review
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Research …
Review
Clinical and genetic analysis of lipid storage myopathies
A Ohkuma, S Noguchi, H Sugie, MCV Malicdan, T Fukuda, K Shimazu, ...
Muscle & Nerve: Official Journal of the American Association of …, 2009
Mandates: US National Institutes of Health
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