Investigation of the functional effect of monoamine oxidase polymorphisms in human brain J Balciuniene, L Emilsson, L Oreland, U Pettersson, E Jazin Human genetics 110, 1-7, 2002 | 227 | 2002 |
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities J Balciuniene, N Feng, K Iyadurai, B Hirsch, L Charnas, BR Bill, ... The American Journal of Human Genetics 80 (5), 938-947, 2007 | 127 | 2007 |
Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients L Emilsson, P Saetre, J Balciuniene, A Castensson, N Cairns, EE Jazin Neuroscience letters 326 (1), 56-60, 2002 | 109 | 2002 |
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12–p13 J Balciuniene, K Johansson, O Sandgren, L Wachtmeister, G Holmgren, ... Genomics 30 (2), 281-286, 1995 | 97 | 1995 |
Alpha-tectorin involvement in hearing disabilities: one gene–two phenotypes J Balciuniene, N Dahl, P Jalonen, K Verhoeven, G Van Camp, E Borg, ... Human genetics 105, 211-216, 1999 | 86 | 1999 |
Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 81 | 2019 |
The phenotype of recurrent 10q22q23 deletions and duplications BWM Van Bon, J Balciuniene, G Fruhman, SCS Nagamani, DL Broome, ... European journal of human genetics 19 (4), 400-408, 2011 | 80 | 2011 |
Global increases in both common and rare copy number load associated with autism S Girirajan, RL Johnson, F Tassone, J Balciuniene, N Katiyar, K Fox, ... Human molecular genetics 22 (14), 2870-2880, 2013 | 78 | 2013 |
Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles J Balciuniene, VJ Bardwell, D Zarkower Molecular and cellular biology 26 (23), 8984-8991, 2006 | 78 | 2006 |
Linkage analysis of a large Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23 E Lindholm, B Ekholm, J Balciuniene, G Johansson, A Castensson, ... American journal of medical genetics 88 (4), 369-377, 1999 | 76 | 1999 |
Targeted transgene integration overcomes variability of position effects in zebrafish JA Roberts, I Miguel-Escalada, KJ Slovik, KT Walsh, Y Hadzhiev, ... Development 141 (3), 715-724, 2014 | 72 | 2014 |
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family J Balciuniene, N Dahl, E Borg, E Samuelsson, MJ Koisti, U Pettersson, ... The American Journal of Human Genetics 63 (3), 786-793, 1998 | 70 | 1998 |
Chromosome-specific panels of tri-and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in … AK Lindqvist, PK Magnusson, J Balciuniene, C Wadelius, E Lindholm, ... Genome Research 6 (12), 1170-1176, 1996 | 68 | 1996 |
Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders? K Lindblad, PO Nylander, C Zander, QP Yuan, L Ståhle, C Engström, ... Molecular psychiatry 3 (5), 405-410, 1998 | 67 | 1998 |
Etv2 and fli1b function together as key regulators of vasculogenesis and angiogenesis MP Craig, V Grajevskaja, HK Liao, J Balciuniene, SC Ekker, JS Park, ... Arteriosclerosis, thrombosis, and vascular biology 35 (4), 865-876, 2015 | 64 | 2015 |
The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa J Balciuniene, AC Syvänen, HL McLeod, U Pettersson, EE Jazin Journal of Molecular Evolution 52, 157-163, 2001 | 59 | 2001 |
A nuclear mtDNA concatemer (Mega-NUMT) could mimic paternal inheritance of mitochondrial genome J Balciuniene, D Balciunas Frontiers in genetics 10, 458089, 2019 | 51 | 2019 |
Use of a dynamic genetic testing approach for childhood-onset epilepsy J Balciuniene, ET DeChene, G Akgumus, EJ Romasko, K Cao, HA Dubbs, ... JAMA network open 2 (4), e192129-e192129, 2019 | 51 | 2019 |
AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss Q Guan, J Balciuniene, K Cao, Z Fan, S Biswas, A Wilkens, DJ Gallo, ... Genetics in Medicine 20 (12), 1600-1608, 2018 | 37 | 2018 |
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ... Genetics in Medicine 23 (6), 1028-1040, 2021 | 34 | 2021 |