Articles with public access mandates - Sateesh MaddirevulaLearn more
Not available anywhere: 2
Review
Further delineation of HIDEA syndrome
S Maddirevula, T Ben‐Omran, M AlMureikhi, W Eyaid, H Arabi, ...
American Journal of Medical Genetics Part A 182 (12), 2999-3006, 2020
Mandates: US National Institutes of Health
Review
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
S Maddirevula, M Shagrani, AR Ji, CR Horne, SN Young, LJ Mather, ...
Genetics in Medicine 26 (11), 101231, 2024
Mandates: National Health and Medical Research Council, Australia
Available somewhere: 27
Review
Genomic and phenotypic delineation of congenital microcephaly
R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ...
Genetics in Medicine 21 (3), 545-552, 2019
Mandates: US National Institutes of Health, Howard Hughes Medical Institute
Review
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ...
Nature genetics 49 (4), 537-549, 2017
Mandates: Swiss National Science Foundation, US National Institutes of Health, Cancer …
Review
The gene curation coalition: a global effort to harmonize gene–disease evidence resources
MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ...
Genetics in Medicine 24 (8), 1732-1742, 2022
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish
JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ...
The American Journal of Human Genetics 101 (1), 23-36, 2017
Mandates: Swiss National Science Foundation, US National Institutes of Health …
Review
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ...
Brain 141 (7), 1934-1945, 2018
Mandates: National Institute for Health Research, UK, Wellcome Trust
Review
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
N Patel, D Anand, D Monies, S Maddirevula, AO Khan, T Algoufi, ...
Human genetics 136, 205-225, 2017
Mandates: US National Institutes of Health
Review
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
R Shaheen, M Tasak, S Maddirevula, GMH Abdel-Salam, ISM Sayed, ...
Human genetics 138, 231-239, 2019
Mandates: US National Institutes of Health
Review
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
S Maddirevula, H Kuwahara, N Ewida, HE Shamseldin, N Patel, ...
Genome biology 21, 1-21, 2020
Mandates: National Institute of Health and Medical Research, France
Review
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ...
Brain 142 (10), 2948-2964, 2019
Mandates: German Research Foundation, Dunhill Medical Trust, UK, UK Medical Research …
Review
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, ...
Nature communications 11 (1), 595, 2020
Mandates: Research Foundation (Flanders), Canadian Institutes of Health Research …
Review
Bi-allelic TMEM94 truncating variants are associated with neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism
J Stephen, S Maddirevula, S Nampoothiri, JD Burke, M Herzog, A Shukla, ...
The American Journal of Human Genetics 103 (6), 948-967, 2018
Mandates: US National Institutes of Health
Review
Exploiting the Autozygome to support previously published Mendelian gene-disease associations: an update
S Maddirevula, HE Shamseldin, A Sirr, L AlAbdi, RS Lo, N Ewida, ...
Frontiers in Genetics 11, 580484, 2020
Mandates: US National Institutes of Health
Review
Lethal variants in humans: lessons learned from a large molecular autopsy cohort
HE Shamseldin, L AlAbdi, S Maddirevula, HS Alsaif, F Alzahrani, N Ewida, ...
Genome medicine 13, 1-11, 2021
Mandates: Wellcome Trust
Review
Primate-specific ZNF808 is essential for pancreatic development in humans
E De Franco, NDL Owens, H Montaser, MN Wakeling, J Saarimäki-Vire, ...
Nature Genetics 55 (12), 2075-2081, 2023
Mandates: Bill & Melinda Gates Foundation, US National Institutes of Health, European …
Review
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
ME McQuaid, K Ahmed, S Tran, J Rousseau, R Shaheen, KD Kernohan, ...
JCI insight 7 (10), e155648, 2022
Mandates: Canadian Institutes of Health Research, Genome Canada, Natural Sciences and …
Review
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
C Gracia-Diaz, Y Zhou, Q Yang, R Maroofian, P Espana-Bonilla, CH Lee, ...
Nature communications 14 (1), 4109, 2023
Mandates: US National Institutes of Health, UK Medical Research Council, National …
Review
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
SK Akula, JH Marciano, Y Lim, D Exposito-Alonso, NK Hylton, GH Hwang, ...
Proceedings of the National Academy of Sciences 120 (4), e2209964120, 2023
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, European …
Review
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
MM van der Knoop, R Maroofian, Y Fukata, Y van Ierland, EG Karimiani, ...
Brain 145 (7), 2301-2312, 2022
Mandates: Canadian Institutes of Health Research, Natural Sciences and Engineering …
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