HR Waterham 个人学术档案 - 学术资源搜索

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

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HR Waterham

Professor Functional Genetics of Metabolic Diseases at University of Amsterdam

在 amc.uva.nl 的电子邮件经过验证

Metabolism Genetics Translational Research


标题按引用次数排序按年份排序按标题排序	引用次数引用次数	年份
Biochemistry of mammalian peroxisomes revisited RJA Wanders, HR Waterham Annu. Rev. Biochem. 75, 295-332, 2006	1085	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	799	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	663	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	558	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	485	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	383	2001
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	359	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	353	2004
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	350	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	340	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	340	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	332	2016
Peroxisomal disorders: the single peroxisomal enzyme deficiencies RJA Wanders, HR Waterham Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006	324	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	311	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	297	2008
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	297*	1998
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	296	2012
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	276	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	258	2008
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene HR Waterham, J Koster, P Mooyer, G Van Noort, RI Kelley, WR Wilcox, ... The American Journal of Human Genetics 72 (4), 1013-1017, 2003	256	2003

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