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kathleen freson
kathleen freson
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Year
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
11552016
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
9092014
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
7912017
Platelets
AD Michelson, M Cattaneo, A Frelinger, P Newman
Academic press, 2019
6632019
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
4582012
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
4052017
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
3862020
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
3222014
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
3182013
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
2672018
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
2542001
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
2442008
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
1872016
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
1712002
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
1592017
Inherited platelet disorders
AT Nurden, K Freson, U Seligsohn
Haemophilia 18, 154-160, 2012
1582012
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
1562019
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
1532016
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
1472016
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
1432016
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