VU Medicinos fakulteto autoriaus 'Monika Mozerė' publikacijų sąrašas

2024
1 Voinescu, Cătălin D.; Mozerė, Monika; Genovese, Giulio; Downie, Mallory L.; Gupta, Sanjana; Gale, Daniel P.; Bockenhauer, Detlef; Kleta, Robert; Arcos-Burgos, Mauricio; Stanescu, Horia C. A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy // Kidney international. New York : Elsevier. ISSN 0085-2538. eISSN 1523-1755. 2024, vol. 105, iss. 4, p. 791-798. DOI: 10.1016/j.kint.2024.01.017. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 12.600; AIF: 3.100; Q1 (2024 InCities JCR SCIE)]

2022
1 Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-Lopez, Jose M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, Daniela; Mozerė, Monika; Tekman, Mehmet; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; Heinl, Elena-Sofia; Othmen, Helga; Tegtmeier, Ines; Reichold, Markus; Schiessl, Ina Maria; Limm, Katharina; Oefner, Peter; Witzgall, Ralph; Fu, Lifei; Theilig, Franziska; Schilling, Achim; Shuster Biton, Efrat; Kalfon, Limor; Fedida, Ayalla; Arnon-Sheleg, Elite; Ben Izhak, Ofer; Magen, Daniella; Anikster, Yair; Schulze, Holger; Ziegler, Christine; Lowe, Martin; Davies, Benjamin; Bockenhauer, Detlef; Kleta, Robert; Falik Zaccai, Tzipora C.; Warth, Richard. A founder mutation in EHD1 presents with tubular proteinuria and deafness // Journal of the American Society of Nephrology. Philadelphia : Ovid Technologies (Wolters Kluwer Health). ISSN 1046-6673. eISSN 1533-3450. 2022, vol. 33, iss. 4, p. 732-745. DOI: 10.1681/ASN.2021101312. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 13.600; AIF: 4.000; Q1 (2022 InCities JCR SCIE)]
2 Dixon, Peter; Levine, Adam; Cebola, Inês; Chan, Melanie M. Y.; Amin, Aliya S.; Aich, Anshul; Mozerė, Monika; Maude, Hannah; Mitchell, Alice L.; Zhang, Jun; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bleda, M.; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Church, Colin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Condliffe, Robin; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Danesino, Cesare; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V. V.; Dent, Timothy; Dewhurst, Eleanor; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria Cecilia; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mélanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel P.; Gall, Henning; Geoghegan, Claire; Gerighty, Terry; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, Simon; Gilmour, Kimberley; Girerd, Barbara; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Gräf, Stefan; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, William M.; Haimel, Matthias; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humbert, Marc; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Kovacs, Gabor; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kuria, Manju; Laffa, Michael; Lalloo, Fiona; Lamber, Michele; Alle, Hana Lango; Lawrie, Allan; Layton, Mark; Lentaigne, Claire; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moledina, Shahin; Montani, David; Moor, Tony; Morrell, Nicholas; Muir, Keith; Mumford, Andrew; Newnham, Michael; O’Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Olschewski, Andrea; Olschewski, Horst; Ong, Kai Ren; Ormondroy, Elizabeth; Ouwehan, Willem; Papadi, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Pepke-Zaba, Joanna; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthew, Paula; Rees, Christine; Rendon, A.; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Scelsi, Laura; Schulman, Sol; Scully, Marie; Searle, Claire; Seeger, Werner; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G. C.; Snape, Katie; Soubrier, Florent; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Swietlik, Emilia; Tait, R. Campbell; Talks, Kate; Tan, Rhea; Thaventhiran, James; Themistocleous, Andreas; Thomas, Moira; Thomson, Kate; Thrasher, Adrian; Thys, Chantal; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Traylor, Matthew; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Vale, Tom; Van Geet, Chris; Van Zuydam, Natalie; Vazquez-Lopez, Marta; von Ziegenweidt, Julie; Noordegraaf, Anton Vonk; Waisfisz, Quintin; Walker, Suellen; Ware, James; Watkins, Hugh; Watt, Christopher; Webster, Andrew; Wei, Wei; Welch, Steven; Wessels, Julie; Westbury, Sarah; Westwood, John-Paul; Wharton, John; Whitehorn, Deborah; Whitworth, James; Wilkins, Martin R.; Wong, Edwin; Wood, Nicholas; Wood, Yvette; Woods, Geoff; Woodward, Emma; Wort, Stephen; Worth, Austen; Yates, Katherine; Yong, Patrick; Young, Tim; Yu, Ping; Yu-Wai-Man, Patrick; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J.P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E.A.; Leong, I. U.S.; Lopez, F. J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O’Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R.A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Chambers, Jenny; Syngelaki, Argyro; Donnelly, Jennifer; Cooley, Sharon; Geary, Michael; Nicolaides, Kypros; Thorsell, Malin; Marschall, Hanns-Ulrich; Williamson, Catherine. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements // Nature Communications. Berlin : Nature Research. eISSN 2041-1723. 2022, vol. 13, art. no. 4840, p. 1-18. DOI: 10.1038/s41467-022-29931-z. [DB: Science Citation Index Expanded (Web of Science)]

2020
1 Levine, Adam P.; Chan, Melanie M. Y.; Sadeghi-Alavijeh, Omid; Wong, Edwin K.S.; Cook, H. Terence; Ashford, Sofie; Carss, Keren; Christian, Martin T.; Hall, Matthew; Harris, Claire Louise; McAlinden, Paul; Marchbank, Kevin J.; Marks, Stephen D.; Maxwell, Heather; Megy, Karyn; Penkett, Christopher J.; Mozerė, Monika; Stirrups, Kathleen E.; Tuna, Salih; Wessels, Julie; Whitehorn, Deborah; Johnson, Sally A.; Gale, Daniel P. Large-scale whole-genome sequencing reveals the genetic architecture of primary membranoproliferative GN and C3 glomerulopathy // Journal of The American Society of Nephrology : Lippincott Williams & Wilkins. ISSN 1046-6673. eISSN 1533-3450. 2020, vol. 31, iss. 2, p. 365-373. DOI: 10.1681/ASN.2019040433. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 10.121; AIF: 3.998; Q1 (2020 InCities JCR SCIE)]
2 Sukcharoen, Kittiya; Sharp, Seth A.; Thomas, Nicholas J.; Kimmitt, Robert A.; Harrison, Jamie; Bingham, Coralie; Mozerė, Monika; Weedon, Michael N.; Tyrrell, Jessica; Barratt, Jonathan; Gale, Daniel P.; Oram, Richard A. IgA nephropathy genetic risk score to estimate the prevalence of IgA nephropathy in UK biobank // Kidney International Reports. New York : Elsevier. eISSN 2468-0249. 2020, vol. 5, iss. 10, p. 1643-1650. DOI: 10.1016/j.ekir.2020.07.012. [DB: Science Citation Index Expanded (Web of Science), Scopus, ScienceDirect]
3 Turro, Ernest; Astle, William J.; Megy, Karyn; Graef, Stefan; Greene, Daniel; Shamardina, Olga; Allen, Hana Lango; Sanchis-Juan, Alba; Frontini, Mattia; Thys, Chantal; Stephens, Jonathan; Mapeta, Rutendo; Burren, Oliver S.; Downes, Kate; Haimel, Matthias; Tuna, Salih; Deevi, Sri V. V.; Aitman, Timothy J.; Bennett, David L.; Calleja, Paul; Carss, Keren; Caulfield, Mark J.; Chinnery, Patrick F.; Dixon, Peter H.; Gale, Daniel P.; James, Roger; Koziell, Ania; Laffan, Michael A.; Levine, Adam P.; Maher, Eamonn R.; Markus, Hugh S.; Morales, Joannella; Morrell, Nicholas W.; Mumford, Andrew D.; Ormondroyd, Elizabeth; Rankin, Stuart; Rendon, Augusto; Richardson, Sylvia; Roberts, Irene; Roy, Noemi B. A.; Saleem, Moin A.; Smith, Kenneth G. C.; Stark, Hannah; Tan, Rhea Y. Y.; Themistocleous, Andreas C.; Thrasher, Adrian J.; Watkins, Hugh; Webster, Andrew R.; Wilkins, Martin R.; Williamson, Catherine; Whitworth, James; Humphray, Sean; Bentley, David R.; Kingston, Nathalie; Walker, Neil; Bradley, John R.; Ashford, Sofie; Penkett, Christopher J.; Freson, Kathleen; Stirrups, Kathleen E.; Raymond, F. Lucy; Ouwehand, Willem H.; Mozerė, Monika (tyrėjas). Whole-genome sequencing of patients with rare diseases in a national health system // Nature. Berlin : Springer. ISSN 0028-0836. eISSN 1476-4687. 2020, vol. 583, p. 96-102. DOI: 10.1038/s41586-020-2434-2. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 49.962; AIF: 6.440; Q1 (2020 InCities JCR SCIE)]
4 Thaventhiran, James E. D.; Allen, Hana Lango; Burren, Oliver S.; Rae, William; Greene, Daniel; Staples, Emily; Zhang, Zinan; Farmery, James H. R.; Simeoni, Ilenia; Rivers, Elizabeth; Maimaris, Jesmeen; Penkett, Christopher J.; Stephens, Jonathan; Deevi, Sri V. V.; Sanchis-Juan, Alba; Gleadall, Nicholas S.; Thomas, Moira J.; Sargur, Ravishankar B.; Gordins, Pavels; Baxendale, Helen E.; Brown, Matthew; Tuijnenburg, Paul; Worth, Austen; Hanson, Steven; Linger, Rachel J.; Buckland, Matthew S.; Rayner-Matthews, Paula J.; Gilmour, Kimberly C.; Samarghitean, Crina; Seneviratne, Suranjith L.; Sansom, David M.; Lynch, Andy G.; Megy, Karyn; Ellinghaus, Eva; Ellinghaus, David; Jorgensen, Silje F.; Karlsen, Tom H.; Stirrups, Kathleen E.; Cutler, Antony J.; Kumararatne, Dinakantha S.; Chandra, Anita; Edgar, J. David M.; Herwadkar, Archana; Cooper, Nichola; Grigoriadou, Sofia; Huissoon, Aarnoud P.; Goddard, Sarah; Jolles, Stephen; Schuetz, Catharina; Boschann, Felix; Lyons, Paul A.; Hurles, Matthew E.; Savic, Sinisa; Burns, Siobhan O.; Kuijpers, Taco W.; Turro, Ernest; Ouwehand, Willem H.; Thrasher, Adrian J.; Smith, Kenneth G. C.; Mozerė, Monika (tyrėjas). Whole-genome sequencing of a sporadic primary immunodeficiency cohort // Nature. Berlin : Springer. ISSN 0028-0836. eISSN 1476-4687. 2020, vol. 583, p. 90-95. DOI: 10.1038/s41586-020-2265-1. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 49.962; AIF: 6.440; Q1 (2020 InCities JCR SCIE)]

2019
1 Dufek, Stephanie; Cheshire, Chris; Levine, Adam P.; Trompeter, Richard S.; Issler, Naomi; Stubbs, Matthew; Mozerė, Monika; Gupta, Sanjana; Klootwijk, Enriko; Patel, Vaksha; Hothi, Daljit; Waters, Aoife; Webb, Hazel; Tullus, Kjell; Jenkins, Lucy; Godinho, Lighta; Levtchenko, Elena; Wetzels, Jack; Knoers, Nine; Teeninga, Nynke; Nauta, Jeroen; Shalaby, Mohamed; Eldesoky, Sherif; Kari, Jameela A.; Thalgahagoda, Shenal; Ranawaka, Randula; Abeyagunawardena, Asiri; Adeyemo, Adebowale; Kristiansen, Mark; Gbadegesin, Rasheed; Webb, Nicholas J.; Gale, Daniel P.; Stanescu, Horia C.; Kleta, Robert; Bockenhauer, Detlef. Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome // Journal of The American Society of Nephrology. Philadelphia : Lippincott Williams & Wilkins. ISSN 1046-6673. eISSN 1533-3450. 2019, vol. 30, iss. 8, p. 1375-1384. DOI: 10.1681/ASN.2018101054. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 9.274; AIF: 3.285; Q1 (2019 InCities JCR SCIE)]
2 Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindziczâ, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; Taylor, Jenny C.; Watkins, Hugh; Webster, Andrew R.; Wilkie, Andrew O. M.; Williamson, Catherine; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Rendon, Augusto; Ouwehand, Willem H.; Bradley, John R.; Raymond, F. Lucy; Caulfield, Mark; Turro, Ernest; Chinnery, Patrick F.; Mozerė, Monika (tyrėjas); Jurkutė, Neringa (tyrėjas). Germline selection shapes human mitochondrial DNA diversity // Science. Washington : American Association for the Advancement of Science. ISSN 0036-8075. eISSN 1095-9203. 2019, vol. 364, iss. 6442, art. no. 749, p. [1-12]. DOI: 10.1126/science.aau6520. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 41.846; AIF: 5.327; Q1 (2019 InCities JCR SCIE)]

2018
1 Reichold, Markus; Klootwijk, Enriko D.; Reinders, Joerg; Otto, Edgar A.; Milani, Mario; Broeker, Carsten; Laing, Chris; Wiesner, Julia; Devi, Sulochana; Zhou, Weibin; Schmitt, Roland; Tegtmeier, Ines; Sterner, Christina; Doellerer, Hannes; Renner, Kathrin; Oefner, Peter J.; Dettmer, Katja; Simbuerger, Johann M.; Witzgall, Ralph; Stanescu, Horia C.; Dumitriu, Simona; Iancu, Daniela; Patel, Vaksha; Mozerė, Monika; Tekman, Mehmet; Jaureguiberry, Graciana; Issler, Naomi; Kesselheim, Anne; Walsh, Stephen B.; Gale, Daniel P.; Howie, Alexander J.; Martins, Joana R.; Hall, Andrew M.; Kasgharian, Michael; O’Brien, Kevin; Ferreira, Carlos R.; Atwal, Paldeep S.; Jain, Mahim; Hammers, Alexander; Charles-Edwards, Geoffrey; Choe, Chi-Un; Isbrandt, Dirk; Cebrian-Serrano, Alberto; Davies, Ben; Sandford, Richard N.; Pugh, Christopher; Konecki, David S.; Povey, Sue; Bockenhauer, Detlef; Lichter-Konecki, Uta; Gahl, William A.; Unwin, Robert J.; Warth, Richard; Kleta, Robert. Glycine Amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure // Journal of The American Society of Nephrology : American Society of Nephrology. ISSN 1046-6673. eISSN 1533-3450. 2018, vol. 29, iss. 7, p. 1849-1858. DOI: 10.1681/ASN.2017111179. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 8.547; AIF: 3.292; Q1 (2018 InCities JCR SCIE)]
2 Mozerė, Monika; Tekman, Mehmet; Kari, Jameela; Bockenhauer, Detlef; Kleta, Robert; Stanescu, Horia. OVAS: an open-source variant analysis suite with inheritance modelling // BMC Bioinformatics. London : Springer Nature. ISSN 1471-2105. eISSN 1471-2105. 2018, vol. 19, iss. 1, art. no. 46, p. [1-10]. DOI: 10.1186/s12859-018-2030-8. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 2.511; AIF: 3.260; Q1 (2018 InCities JCR SCIE)]

2017
1 Tekman, Mehmet; Medlar, Alan; Mozerė, Monika; Kleta, Robert; Stanescu, Horia. HaploForge: a comprehensive pedigree drawing and haplotype visualization web application // Bioinformatics. Oxford : Oxford University Press. ISSN 1367-4803. eISSN 1367-4811. 2017, vol. 33, iss. 24, p. 3871-3877. DOI: 10.1093/bioinformatics/btx510. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 5.481; AIF: 3.141; Q1 (2017 InCities JCR SCIE)]
2 Cabezas, Oscar Rubio; Flanagan, Sarah E.; Stanescu, Horia; Garcia-Martinez, Elena; Caswell, Richard; Lango-Allen, Hana; Anton-Gamero, Montserrat; Argente, Jesus; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P.; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; Koettgen, Michael; Lewis, Wendy; Martos, José María; Mozerė, Monika; Norman, Jill; Patel, Vaksha; Parrish, Andrew; Perez-Cerda, Celia; Pozo, Jesus; Rahman, Sofia A.; Sebire, Neil; Tekman, Mehmet; Turnpenny, Peter D.; Van'T Hoff, William; Viering, Daan H.H.M.; Weedon, Michael N.; Wilson, Patricia; Guay-Woodford, Lisa; Kleta, Robert; Hussain, Khalid; Ellard, Sian; Bockenhauer, Detlef. Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2 // Journal of The American Society of Nephrology : American Society of Nephrology. ISSN 1046-6673. eISSN 1533-3450. 2017, vol. 28, iss. 8, p. 2529-2539. DOI: 10.1681/ASN.2016121312. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 8.655; AIF: 3.387; Q1 (2017 InCities JCR SCIE)]

2013
1 Mahmood, Fahad; Mozerė, Monika; Zdebik, Anselm A.; Stanescu, Horia C.; Tobin, Jonathan; Beales, Philip L.; Kleta, Robert; Bockenhauer, Detlef; Russell, Claire. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome // Disease models & mechanisms. Cambridge : The Company of Biologists Ltd. ISSN 1754-8403. eISSN 1754-8411. 2013, vol. 6, iss. 3, p. 652-660. DOI: 10.1242/dmm.009480. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 5.537; AIF: 4.310; Q1 (2013 InCities JCR SCIE)]