HR Waterham

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Medförfattare

Sander M. HoutenAssociate Professor, Icahn School of Medicine at Mount SinaiVerifierad e-postadress på mssm.edu
Ger RijkersUniversity College Roosevelt & Elisabeth Tweesteden Hospital, TilburgVerifierad e-postadress på ucr.nl
Gerbert A. JansenPostdoctoral fellow, Academic Medical Center - University of AmsterdamVerifierad e-postadress på amc.uva.nl
Ron WeversProfessor in Clinical Chemistry in NijmegenVerifierad e-postadress på radboudumc.nl
Stephan KempAmsterdam University Medical Centers, the NetherlandsVerifierad e-postadress på amsterdamumc.nl
TGJ DerksUniversity of Groningen, University Medical Center GroningenVerifierad e-postadress på umcg.nl
Vladimir TitorenkoProfessor of Biology, Concordia UniversityVerifierad e-postadress på concordia.ca
ke niezen-koninguniversity of groningen, university medical center groningenVerifierad e-postadress på umcg.nl
Prof Tom J de Koning, MD PhD MBAChair department of Pediatrics Lund University Sweden, PI department of Genetics and Neurology, UMCGVerifierad e-postadress på med.lu.se
Marc EngelenAmsterdam University Medical CentersVerifierad e-postadress på amc.uva.nl
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicineVerifierad e-postadress på radboudumc.nl
Riekelt HoutkooperProfessor of Translational Metabolism, Academic Medical Center (AMC), AmsterdamVerifierad e-postadress på amc.nl
David R FitzPatrickProfessor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of EdinburghVerifierad e-postadress på nhs.net
Paul CofferUniversity Medical Center UtrechtVerifierad e-postadress på umcutrecht.nl
Frederica TheodoulouScience Director, Plant Sciences for the Bioeconomy, Rothamsted ResearchVerifierad e-postadress på rothamsted.ac.uk
Anthony S. WierzbickiConsultant (Honorary Professor) in Metabolic Medicine, Guy's & St Thomas' Hospitals London UKVerifierad e-postadress på kcl.ac.uk
Aurora PujolProfessor of Genetics and Neuroscience, IDIBELL, ICREA Barcelona SpainVerifierad e-postadress på idibell.cat
I.J. Klei, van derProfessor Molecular Cell Biology, University of GroningenVerifierad e-postadress på rug.nl
K.J. HellingwerfProfessor emeritus in General microbiology, University of AmsterdamVerifierad e-postadress på uva.nl
Ivona AksentijevichNational Human Genome Research Institute, BethesdaVerifierad e-postadress på mail.nih.gov

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HR Waterham

Professor Functional Genetics of Metabolic Diseases at University of Amsterdam

Verifierad e-postadress på amc.uva.nl

Metabolism Genetics Translational Research


Titel Sortera efter citat Sortera efter år Sortera efter titel	Citeras av Citeras av	År
Biochemistry of mammalian peroxisomes revisited RJA Wanders, HR Waterham Annu. Rev. Biochem. 75, 295-332, 2006	1104	2006
A lethal defect of mitochondrial and peroxisomal fission HR Waterham, J Koster, CWT van Roermund, PAW Mooyer, ... New England Journal of Medicine 356 (17), 1736-1741, 2007	823	2007
Isolation of the Pichia pastoris glyceraldehyde-3-phosphate dehydrogenase gene and regulation and use of its promoter HR Waterham, ME Digan, PJ Koutz, SV Lair, JM Cregg Gene 186 (1), 37-44, 1997	660	1997
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome SM Houten, W Kuis, M Duran, TJ De Koning, A van Royen-Kerkhof, ... Nature genetics 22 (2), 175-177, 1999	577	1999
Functions and biosynthesis of plasmalogens in health and disease P Brites, HR Waterham, RJA Wanders Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2004	496	2004
Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis HR Waterham, J Koster, GJ Romeijn, RCM Hennekam, P Vreken, ... The American Journal of Human Genetics 69 (4), 685-694, 2001	396	2001
Infevers: an evolving mutation database for auto‐inflammatory syndromes I Touitou, S Lesage, M McDermott, L Cuisset, H Hoffman, C Dode, ... Human mutation 24 (3), 194-198, 2004	367	2004
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations S Kemp, A Pujol, HR Waterham, BM Van Geel, CD Boehm, GV Raymond, ... Human mutation 18 (6), 499-515, 2001	365	2001
Human disorders of peroxisome metabolism and biogenesis HR Waterham, S Ferdinandusse, RJA Wanders Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research 1863 (5), 922-933, 2016	357	2016
Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases RJA Wanders, P Vreken, S Ferdinandusse, GA Jansen, HR Waterham, ... Biochemical Society Transactions 29 (2), 250-267, 2001	354	2001
Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum RJA Wanders, HR Waterham, S Ferdinandusse Frontiers in cell and developmental biology 3, 83, 2016	352	2016
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+ 1G> A … ABP van Kuilenburg, EW Muller, J Haasjes, R Meinsma, L Zoetekouw, ... Clinical cancer research 7 (5), 1149-1153, 2001	346	2001
Peroxisomal disorders: the single peroxisomal enzyme deficiencies RJA Wanders, HR Waterham Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006	330	2006
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy S Ferdinandusse, S Denis, PT Clayton, A Graham, JE Rees, JT Allen, ... Nature genetics 24 (2), 188-191, 2000	315	2000
The infevers autoinflammatory mutation online registry: update with new genes and functions F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ... Human mutation 29 (6), 803-808, 2008	308	2008
Genetics and molecular basis of human peroxisome biogenesis disorders HR Waterham, MS Ebberink Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012	307	2012
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene HR Waterham, FA Wijburg, RCM Hennekam, P Vreken, L Dorland, ... The American Journal of Human Genetics 63 (2), 329-338, 1998	304*	1998
Subcellular localization and physiological role of α-methylacyl-CoA racemase S Ferdinandusse, S Denis, L IJlst, G Dacremont, HR Waterham, ... Journal of lipid research 41 (11), 1890-1896, 2000	278	2000
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters CWT van Roermund, WF Visser, L IJlst, A van Cruchten, M Boek, W Kulik, ... The FASEB Journal 22 (12), 4201-4208, 2008	257	2008
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact N Shai, E Yifrach, CWT van Roermund, N Cohen, C Bibi, L IJlst, ... Nature communications 9 (1), 1761, 2018	255	2018

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