| Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease HD Gonorazky, S Naumenko, AK Ramani, V Nelakuditi, P Mashouri, ... The American Journal of Human Genetics 104 (3), 466-483, 2019 | 256 | 2019 |
| Spell checking nature: versatility of CRISPR/Cas9 for developing treatments for inherited disorders D Wojtal, DU Kemaladewi, Z Malam, S Abdullah, TWY Wong, E Hyatt, ... The American Journal of Human Genetics 98 (1), 90-101, 2016 | 131 | 2016 |
| A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene DU Kemaladewi, PS Bassi, S Erwood, D Al-Basha, KI Gawlik, K Lindsay, ... Nature 572 (7767), 125-130, 2019 | 116 | 2019 |
| Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism DU Kemaladewi, E Maino, E Hyatt, H Hou, M Ding, KM Place, X Zhu, ... Nature medicine 23 (8), 984-989, 2017 | 85 | 2017 |
| Lethal disorder of mitochondrial fission caused by mutations in DNM1L G Yoon, Z Malam, T Paton, CR Marshall, E Hyatt, Z Ivakine, SW Scherer, ... The Journal of pediatrics 171, 313-316. e2, 2016 | 77 | 2016 |
| Cell‐type specific regulation of myostatin signaling DU Kemaladewi, DJJ de Gorter, A Aartsma‐Rus, GJ van Ommen, P Dijke, ... The FASEB Journal 26 (4), 1462-1472, 2012 | 75 | 2012 |
| Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy DU Kemaladewi, WMH Hoogaars, SH van Heiningen, S Terlouw, ... BMC medical genomics 4, 1-10, 2011 | 65 | 2011 |
| BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model ST Shi, WMH Hoogaars, DJJ de Gorter, SH van Heiningen, HY Lin, ... Neurobiology of disease 41 (2), 353-360, 2011 | 46 | 2011 |
| Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva ST Shi, J Cai, DJJ de Gorter, G Sanchez-Duffhues, DU Kemaladewi, ... PloS one 8 (7), e69096, 2013 | 44 | 2013 |
| ATP8A1 activity and phosphatidylserine transbilayer movement E Soupene, D Utami Kemaladewi, FA Kuypers Journal of receptor, ligand and channel research, 1-10, 2008 | 39 | 2008 |
| Targeting TGF-β signaling by antisense oligonucleotide-mediated knockdown of TGF-β type I receptor DU Kemaladewi, S Pasteuning, JW Van Der Meulen, SH Van Heiningen, ... Molecular Therapy-Nucleic Acids 3, 2014 | 34 | 2014 |
| Novel ex vivo culture method for the study of Dupuytren's disease: effects of TGFβ type 1 receptor modulation by antisense oligonucleotides S Karkampouna, BPT Kruithof, P Kloen, MC Obdeijn, AM Van Der Laan, ... Molecular Therapy-Nucleic Acids 3, 2014 | 33 | 2014 |
| Increased polyamines as protective disease modifiers in congenital muscular dystrophy DU Kemaladewi, JS Benjamin, E Hyatt, EA Ivakine, RD Cohn Human molecular genetics 27 (11), 1905-1912, 2018 | 16 | 2018 |
| Exon snipping in Duchenne muscular dystrophy DU Kemaladewi, RD Cohn Trends in Molecular Medicine 22 (3), 187-189, 2016 | 13 | 2016 |
| TGF-β signaling in Duchenne muscular dystrophy DU Kemaladewi, PA ‘t Hoen, P Ten Dijke, GJ Van Ommen, WM Hoogaars Future Neurology 7 (2), 209-224, 2012 | 6 | 2012 |
| Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands HJM Smeets, B Verbrugge, P Springuel, NC Voermans, G Cossu, ... Neuromuscular Disorders 31 (7), 673-680, 2021 | 3 | 2021 |
| A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo DU Kemaladewi, PS Bassi, K Lindsay, S Erwood, E Hyatt, KM Place, ... bioRxiv, 286500, 2018 | 3 | 2018 |
| CRISPR/Cas9-mediated exon inclusion in Lama2 gene alleviates dystrophic pathology in MDC1A mouse model D Kemaladewi, E Hyatt, Z Ivakine, R Cohn Neuromuscular Disorders 26, S190, 2016 | 3 | 2016 |
| CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in merosin-deficient congenital muscular dystrophy AI Arockiaraj, MA Johnson, A Munir, P Ekambaram, PC Lucas, ... bioRxiv, 2023 | 1 | 2023 |
| Development of therapeutic genome engineering in laminin-α2-deficient congenital muscular dystrophy DU Kemaladewi, RD Cohn Emerging Topics in Life Sciences 3 (1), 11-18, 2019 | 1 | 2019 |
