1. "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA‐sequencing. Issue 3 (25th January 2018) Authors: Kremer, Laura S.; Wortmann, Saskia B.; Prokisch, Holger Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 3(2018) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations. (11th October 2021) Authors: Šikić, Katarina; Ramadža, Danijela Petković; Žigman, Tamara; Barišić, Nina; Lehman, Ivan; Mayr, Johannes A; Prokisch, Holger; Wortmann, Saskia B; Sperl, Wolfgang; Mesarić, Nikola; Rahelić, Valentina; Fumić, Ksenija; Ozretić, David; Tomasović, Maja; Barić, Ivo Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 2 Page Start: A45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients. (11th October 2021) Authors: Ramadža, Danijela Petković; Žigman, Tamara; Grizelj, Ruža; Ninković, Dorotea; Omerza, Lana; Aničić, Mirna Natalija; Ćorić, Marijana; Mayr, Johannes A; Feichtinger, René; Wortmann, Saskia; Prokisch, Holger; Fumić, Ksenija; Vuković, Jurica; Barić, Ivo Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 2 Page Start: A45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016) Authors: Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. (29th August 2016) Authors: Huan, Tianxiao; Joehanes, Roby; Schurmann, Claudia; Schramm, Katharina; Pilling, Luke C.; Peters, Marjolein J.; Mägi, Reedik; DeMeo, Dawn; O'Connor, George T.; Ferrucci, Luigi; Teumer, Alexander; Homuth, Georg; Biffar, Reiner; Völker, Uwe; Herder, Christian; Waldenberger, Melanie; Peters, Annette... Journal: Human molecular genetics Issue: Volume 25:Number 21(2016:Nov. 01) Page Start: 4611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. (April 2022) Authors: Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane; Zech,... Journal: Parkinsonism & related disorders Issue: Volume 97(2022) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues. Issue 7 (12th November 2021) Authors: Castaneda, Andy B; Petty, Lauren E; Scholz, Markus; Jansen, Rick; Weiss, Stefan; Zhang, Xiaoling; Schramm, Katharina; Beutner, Frank; Kirsten, Holger; Schminke, Ulf; Hwang, Shih-Jen; Marzi, Carola; Dhana, Klodian; Seldenrijk, Adrie; Krohn, Knut; Homuth, Georg; Wolf, Petra; Peters, Marjolein J; Dö... Journal: Human molecular genetics Issue: Volume 31:Issue 7(2022) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017) Authors: Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor... Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018) Authors: Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann... Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗