Aleš Maver

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Citations	2158	1621
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i10-index	56	41

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Borut PeterlinUniversity Medical Center Ljubljana and Faculty of Medicine, University of Rijeka and UniversityVerified email at guest.arnes.si
Alenka HodžićClinical Institute of Medical Genetics, University Medical Centre LjubljanaVerified email at kclj.si
Luca LovrecicAssist Prof of Human Genetics, Medical Faculty, University of LjubljanaVerified email at kclj.si
Gaber BergantClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, SloveniaVerified email at kclj.si
Miljenko KapovicFull professor, Department of Biology and Medical Genetics, School of Medicine, University of RijekaVerified email at uniri.hr
Smiljana RisticFull professor; Department of Biology and Medical Genetics, School of Medicine, University of RijekaVerified email at medri.uniri.hr
Ana FakinVerified email at mf.uni-lj.si
Juraj SepčićProfessor emeritus, Faculty of Medicine, University of RijekaVerified email at uniri.hr
Saša Ostojićprof.dr.sc., Medicinski fakultet Sveučilišta u Rijeci / Faculty of Medicine - University of Rijeka Verified email at medri.uniri.hr
Assist. prof. Anja Kovanda, PhDClinical Institute of Genomic Medicine, University Medical Centre LjubljanaVerified email at kclj.si
Zalika Klemenc KetišProfessor of Family Medicine, Medical School Maribor, SloveniaVerified email at um.si
Nina Pereza, M.D., Ph.D.Department of medical biology and genetics, Faculty of medicine, University of RijekaVerified email at medri.uniri.hr
Birute TumieneVilnius UniversityVerified email at santa.lt
Dijana Plaseska KaranfilskaMacedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and BiotechnologyVerified email at manu.edu.mk
THAUVIN ChristelVerified email at chu-dijon.fr
Faivre Laurenceprofesseur de génétique, Université de BourgogneVerified email at chu-dijon.fr
Pablo LapunzinaProfessor of Human Genetics; Hospital Universitario La Paz and CIBERER Researcher; INGEMMVerified email at salud.madrid.org
Dimitri KraincNorthwesternVerified email at northwestern.edu
Andrej KastrinUniversity of Ljubljana, SloveniaVerified email at mf.uni-lj.si

Aleš Maver

Clinical institute of genomic medicine, Ljubljana, Slovenia

Verified email at kclj.si

Human genomics Genetic medicine Complex disease Chromosomal anomalies


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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014	120	2014
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects NT Loges, D Antony, A Maver, MA Deardorff, EY Güleç, A Gezdirici, ... The American Journal of Human Genetics 103 (6), 995-1008, 2018	111	2018
Analysis of blood-based gene expression in idiopathic Parkinson disease R Shamir, C Klein, D Amar, EJ Vollstedt, M Bonin, M Usenovic, YC Wong, ... Neurology 89 (16), 1676-1683, 2017	109	2017
Mutations in SCN3A cause early infantile epileptic encephalopathy T Zaman, I Helbig, IB Božović, SD DeBrosse, AC Bergqvist, K Wallis, ... Annals of neurology 83 (4), 703-717, 2018	94	2018
Vaginal microbiome signature is associated with spontaneous preterm delivery K Hočevar, A Maver, M Vidmar Šimic, A Hodžić, A Haslberger, ... Frontiers in medicine 6, 201, 2019	91	2019
“9+ 0” immotile spermatozoa in an infertile man B Baccetti, AG Burrini, A Maver, V Pallini, T Renieri Andrologia 11 (6), 437-443, 1979	71	1979
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases G Bergant, A Maver, L Lovrecic, G Čuturilo, A Hodzic, B Peterlin Genetics in Medicine 20 (3), 303-312, 2018	70	2018
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021	67	2021
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis A Maver, P Lavtar, S Ristić, S Stopinšek, S Simčič, K Hočevar, J Sepčić, ... Scientific reports 7 (1), 3715, 2017	66	2017
Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis I Medica, A Kastrin, A Maver, B Peterlin Journal of human genetics 52 (10), 836-847, 2007	63	2007
De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise K Writzl, A Maver, L Kovačič, P Martinez-Valero, L Contreras, ... The American Journal of Human Genetics 101 (5), 844-855, 2017	57	2017
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss T Likar, M Hasanhodžić, N Teran, A Maver, B Peterlin, K Writzl PLoS One 13 (1), e0188578, 2018	52	2018
Transcriptomic analysis and meta-analysis of human granulosa and cumulus cells T Burnik Papler, E Vrtacnik Bokal, A Maver, AN Kopitar, L Lovrečić PloS one 10 (8), e0136473, 2015	52	2015
Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis P Lavtar, G Rudolf, A Maver, A Hodžić, N Starčević Čizmarević, M Živković, ... PloS one 13 (1), e0190601, 2018	50	2018
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice B Tumienė, A Maver, K Writzl, A Hodžić, G Čuturilo, R Kuzmanić‐Šamija, ... Clinical genetics 93 (5), 1057-1062, 2018	48	2018
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation M Ales, L Luca, V Marija, R Gorazd, W Karin, B Ana, H Alenka, B Peterlin Genetics in Medicine 18 (11), 1102-1110, 2016	45	2016
Improving diagnostics of rare genetic diseases with NGS approaches M Vinkšel, K Writzl, A Maver, B Peterlin Journal of Community Genetics 12, 247-256, 2021	43	2021
No specific gene expression signature in human granulosa and cumulus cells for prediction of oocyte fertilisation and embryo implantation T Burnik Papler, E Vrtacnik Bokal, L Lovrecic, AN Kopitar, A Maver PloS one 10 (3), e0115865, 2015	42	2015
Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility A Hodžić, M Ristanović, B Zorn, C Tulić, A Maver, I Novaković, B Peterlin PloS one 8 (3), e59220, 2013	42	2013
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes L Vidmar, A Maver, J Drulović, J Sepčić, I Novaković, S Ristič, S Šega, ... Scientific reports 9 (1), 9171, 2019	39	2019

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