Articles with public access mandates - William CraigenLearn more
Not available anywhere: 3
Review
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
SM Ware, N El-Hassan, SG Kahler, Q Zhang, E Miller, B Wong, RL Spicer, ...
Journal of medical genetics 46 (5), 308-314, 2009
Mandates: US National Institutes of Health
Review
1: Activation of poly (adp-ribose) polymerase-1 contributes to nad+ depletion and impaired nad+ dependent mitochondrial respiration following status epilepticus
YC Lai, R Searle, W Craigen, A Anderson
Critical Care Medicine 39 (12), 1, 2011
Mandates: Canadian Institutes of Health Research
Review
Barriers to a successful healthcare transition for individuals with urea cycle disorders
FA Ladha, C Le Mons, WJ Craigen, PL Magoulas, R Marom, AM Lewis
Molecular Genetics and Metabolism 139 (3), 107609, 2023
Mandates: US National Institutes of Health
Available somewhere: 111
Review
Molecular findings among patients referred for clinical whole-exome sequencing
Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ...
Jama 312 (18), 1870-1879, 2014
Mandates: US National Institutes of Health
Review
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ...
Journal of medical genetics 47 (5), 332-341, 2010
Mandates: US National Institutes of Health
Review
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
Mandates: US National Institutes of Health
Review
TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control
J Gatliff, D East, J Crosby, R Abeti, R Harvey, W Craigen, P Parker, ...
Autophagy 10 (12), 2279-2296, 2014
Mandates: UK Biotechnology and Biological Sciences Research Council, Cancer Research UK
Review
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ...
Genetics in Medicine 20 (10), 1175-1185, 2018
Mandates: US National Institutes of Health, National Institute for Health Research, UK …
Review
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
B Mohapatra, B Casey, H Li, T Ho-Dawson, L Smith, SD Fernbach, ...
Human molecular genetics 18 (5), 861-871, 2009
Mandates: US National Institutes of Health
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
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
AW El-Hattab, JW Hsu, LT Emrick, LJC Wong, WJ Craigen, F Jahoor, ...
Molecular genetics and metabolism 105 (4), 607-614, 2012
Mandates: US National Institutes of Health
Review
ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
EA Rivera‐Muñoz, LV Milko, SM Harrison, DR Azzariti, CL Kurtz, K Lee, ...
Human mutation 39 (11), 1614-1622, 2018
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
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance
PE Bonnen, JW Yarham, A Besse, P Wu, EA Faqeih, AM Al-Asmari, ...
The American Journal of Human Genetics 93 (3), 471-481, 2013
Mandates: US National Institutes of Health, UK Medical Research Council, Wellcome Trust
Review
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism
A Besse, P Wu, F Bruni, T Donti, BH Graham, WJ Craigen, R McFarland, ...
Cell metabolism 21 (3), 417-427, 2015
Mandates: US National Institutes of Health, UK Medical Research Council, Wellcome Trust
Review
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...
The American Journal of Human Genetics 100 (6), 907-925, 2017
Mandates: National Health and Medical Research Council, Australia, Fondazione Telethon …
Review
VDAC2 is required for truncated BID‐induced mitochondrial apoptosis by recruiting BAK to the mitochondria
SS Roy, AM Ehrlich, WJ Craigen, G Hajnóczky
EMBO reports 10 (12), 1341-1347, 2009
Mandates: US National Institutes of Health
Review
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ...
The Journal of clinical investigation 131 (1), 2021
Mandates: US National Institutes of Health, US Department of Veterans Affairs, US …
Review
Novel genetic triggers and genotype–phenotype correlations in patients with left ventricular noncompaction
K Miszalski-Jamka, JL Jefferies, W Mazur, J Głowacki, J Hu, M Lazar, ...
Circulation: Cardiovascular Genetics 10 (4), e001763, 2017
Mandates: US National Institutes of Health
Review
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ...
The American Journal of Human Genetics 100 (2), 352-363, 2017
Mandates: US National Institutes of Health, Wellcome Trust
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