| The allelic landscape of human blood cell trait variation and links to common complex disease WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa, AL Mann, D Mead, ... Cell 167 (5), 1415-1429. e19, 2016 | 1190 | 2016 |
| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 916 | 2014 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 815 | 2017 |
| Platelets AD Michelson, M Cattaneo, A Frelinger, P Newman Academic press, 2019 | 669 | 2019 |
| Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome CA Albers, DS Paul, H Schulze, K Freson, JC Stephens, PA Smethurst, ... Nature genetics 44 (4), ng. 1083, 2012 | 463 | 2012 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 426 | 2017 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 409 | 2020 |
| Transcriptional diversity during lineage commitment of human blood progenitors L Chen, M Kostadima, JHA Martens, G Canu, SP Garcia, E Turro, ... Science 345 (6204), 1251033, 2014 | 329 | 2014 |
| Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region … T Hompes, B Izzi, E Gellens, M Morreels, S Fieuws, A Pexsters, G Schops, ... Journal of psychiatric research 47 (7), 880-891, 2013 | 322 | 2013 |
| Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ... Nature Reviews Endocrinology 14 (8), 476-500, 2018 | 273 | 2018 |
| Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation K Freson, K Devriendt, G Matthijs, A Van Hoof, R De Vos, C Thys, ... Blood, The Journal of the American Society of Hematology 98 (1), 85-92, 2001 | 256 | 2001 |
| Blood platelet number and function in chronic liver disease and cirrhosis P Witters, K Freson, C Verslype, K Peerlinck, M Hoylaerts, F Nevens, ... Alimentary pharmacology & therapeutics 27 (11), 1017-1029, 2008 | 247 | 2008 |
| A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016 | 189 | 2016 |
| Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with … K Freson, G Matthijs, C Thys, P Mariën, MF Hoylaerts, J Vermylen, ... Human molecular genetics 11 (2), 147-152, 2002 | 171 | 2002 |
| Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants S Pauwels, M Ghosh, RC Duca, B Bekaert, K Freson, I Huybrechts, ... Clinical epigenetics 9, 1-13, 2017 | 169 | 2017 |
| Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders K Downes, K Megy, D Duarte, M Vries, J Gebhart, S Hofer, O Shamardina, ... Blood, The Journal of the American Society of Hematology 134 (23), 2082-2091, 2019 | 165 | 2019 |
| Inherited platelet disorders AT Nurden, K Freson, U Seligsohn Haemophilia 18, 154-160, 2012 | 162 | 2012 |
| Inherited platelet disorders: toward DNA-based diagnosis C Lentaigne, K Freson, MA Laffan, E Turro, WH Ouwehand Blood, The Journal of the American Society of Hematology 127 (23), 2814-2823, 2016 | 158 | 2016 |
| A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss S Stritt, P Nurden, E Turro, D Greene, SB Jansen, SK Westbury, ... Blood, The Journal of the American Society of Hematology 127 (23), 2903-2914, 2016 | 150 | 2016 |
| From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network S Thiele, G Mantovani, A Barlier, V Boldrin, P Bordogna, L De Sanctis, ... European Journal of Endocrinology 175 (6), P1-P17, 2016 | 144 | 2016 |
