Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification F Rutsch, N Ruf, S Vaingankar, MR Toliat, A Suk, W Höhne, G Schauer, ... Nature genetics 34 (4), 379-381, 2003 | 649 | 2003 |
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827-829, 2010 | 375 | 2010 |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 306 | 2012 |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012 | 226 | 2012 |
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 223 | 2017 |
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies CS Ma, N Wong, G Rao, DT Avery, J Torpy, T Hambridge, J Bustamante, ... Journal of Allergy and Clinical Immunology 136 (4), 993-1006. e1, 2015 | 196 | 2015 |
Genome-wide profiling of p63 DNA–binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus EN Kouwenhoven, SJ van Heeringen, JJ Tena, M Oti, BE Dutilh, ... PLoS genetics 6 (8), e1001065, 2010 | 183 | 2010 |
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ... Genetics in Medicine 20 (12), 1564-1574, 2018 | 179 | 2018 |
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome K Buysse, M Riemersma, G Powell, J van Reeuwijk, D Chitayat, T Roscioli, ... Human Molecular Genetics 22 (9), 1746-1754, 2013 | 170 | 2013 |
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation PM Krawitz, Y Murakami, J Hecht, U Krüger, SE Holder, GR Mortier, ... The American Journal of Human Genetics 91 (1), 146-151, 2012 | 162 | 2012 |
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 150 | 2020 |
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs, M Erazo, X Ye, ... Nature genetics 44 (12), 1360-1364, 2012 | 136 | 2012 |
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ... Human mutation 34 (5), 686-696, 2013 | 129 | 2013 |
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 126 | 2018 |
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 116 | 2013 |
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway ST Cliffe, JM Kramer, K Hussain, JH Robben, EK de Jong, AP de Brouwer, ... Human molecular genetics 18 (12), 2257-2265, 2009 | 116 | 2009 |
Intraocular pressure in patients with diabetic macular edema treated with dexamethasone intravitreal implant in the 3-year MEAD study RK Maturi, A Pollack, HS Uy, M Varano, AMV Gomes, XY Li, H Cui, J Lou, ... Retina 36 (6), 1143-1152, 2016 | 115 | 2016 |
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders LG Riley, MJ Cowley, V Gayevskiy, T Roscioli, DR Thorburn, K Prelog, ... Journal of inherited metabolic disease 40, 261-269, 2017 | 113 | 2017 |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen, MK Singh, JA Epstein, ... Nature communications 6 (1), 7199, 2015 | 108 | 2015 |
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease T Roscioli, ST Cliffe, DB Bloch, CG Bell, G Mullan, PJ Taylor, M Sarris, ... Nature genetics 38 (6), 620-622, 2006 | 107 | 2006 |