| “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing LS Kremer, SB Wortmann, H Prokisch Journal of Inherited Metabolic Disease 41, 525-532, 2018 | 46 | 2018 |
| 106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations K Šikić, DP Ramadža, T Žigman, N Barišić, I Lehman, JA Mayr, H Prokisch, ... Archives of Disease in Childhood 106 (Suppl 2), A45-A45, 2021 | | 2021 |
| 107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients DP Ramadža, T Žigman, R Grizelj, D Ninković, L Omerza, MN Aničić, ... Archives of Disease in Childhood 106 (Suppl 2), A45-A46, 2021 | | 2021 |
| 258th ENMC international workshop Leigh syndrome spectrum: Genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands D Diodato, M Schiff, BH Cohen, E Bertini, S Rahman, A Ardissone, ... Neuromuscular Disorders 33 (8), 700-709, 2023 | 1 | 2023 |
| 408 Hyperkinetic and hypokinetic movement disorders–in pediatric clinical practice N Barišić, I Lehman, B Bunoza, D Chudy, V Duranović, B Jernej, U Ahting, ... Arch Dis Child 106 (2), A1-A216, 2021 | | 2021 |
| 62 Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders H Prokisch, T Haack, F Madignier, K Danhauser, B Haberberger, ... | | 2011 |
| A common atopy‐associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD 3 and SP 1 binding A Kretschmer, G Möller, H Lee, H Laumen, C Von Toerne, K Schramm, ... Allergy 69 (5), 632-642, 2014 | 16 | 2014 |
| A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1 E Lattka, S Eggers, G Moeller, K Heim, M Weber, D Mehta, H Prokisch, ... Journal of lipid research 51 (1), 182-191, 2010 | 91 | 2010 |
| A Common Single Nucleotide Polymorphism in the Chromosome 7q22. 3 Region, Which Is Frequently Deleted in Myeloid Malignancies, Is Associated with Mean Platelet Volume and … N Soranzo, MR Tijssen, A Rendon, C Meisinger, CI Jones, C Gieger, ... Blood, The Journal of the American Society of Hematology 112 (11), 86-86, 2008 | | 2008 |
| A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse CA Biagosch, S Vidali, M Faerberboeck, SV Hensler, L Becker, ... Mammalian Genome 32 (5), 332-349, 2021 | 4 | 2021 |
| A DNA methylation biomarker of alcohol consumption C Liu, RE Marioni, ÅK Hedman, L Pfeiffer, PC Tsai, LM Reynolds, AC Just, ... Molecular psychiatry 23 (2), 422-433, 2018 | 341 | 2018 |
| A genome wide association study reveals SLC2A9 as a major gene for uric acid levels with pronounced sex-specifice ects C Gieger, A Döring, M Kolz, D Mehta, H Gohlke, H Prokisch, S Coassin, ... and Posters 17, 41, 2009 | | 2009 |
| A genome-wide association study identifies three loci associated with mean platelet volume C Meisinger, H Prokisch, C Gieger, N Soranzo, D Mehta, D Rosskopf, ... The American Journal of Human Genetics 84 (1), 66-71, 2009 | 136 | 2009 |
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium N Soranzo, TD Spector, M Mangino, B Kühnel, A Rendon, A Teumer, ... Nature genetics 41 (11), 1182-1190, 2009 | 611 | 2009 |
| A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl Neuropediatrics 48 (04), 309-314, 2017 | 78 | 2017 |
| A high-protein diet reduces liver fat content and improves glomerular filtration rate in subjects with type 2 diabetes M Markova, S Hornemann, S Sucher, C Herder, M Roden, H Prokisch, ... Diabetologie und Stoffwechsel 10 (S 01), P157, 2015 | | 2015 |
| A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy A Iuso, B Alhaddad, C Weigel, U Kotzaeridou, E Mastantuono, ... JIMD Reports, Volume 44, 1-7, 2019 | 21 | 2019 |
| A homozygous two exon deletion in UQCRH: matching mouse and human phenotype S Vidali, J Urquhart, J Rozman, K Thompson, C Sanders, E Jamson, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 818-819, 2019 | | 2019 |
| A meta-analysis of gene expression signatures of blood pressure and hypertension T Huan, T Esko, MJ Peters, LC Pilling, K Schramm, C Schurmann, ... PLoS genetics 11 (3), e1005035, 2015 | 133 | 2015 |
| A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors C Evangelisti, D de Biase, I Kurelac, C Ceccarelli, H Prokisch, T Meitinger, ... BMC cancer 15, 1-7, 2015 | 39 | 2015 |
