J. Balciuniene

发表

Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

D. Balciunas, Viktorija Grajevskaja, J. Balciuniene, 2013, Molecular Genetics and Genomics.

Etv2 and Fli1b Function Together as Key Regulators of Vasculogenesis and Angiogenesis

D. Balciunas, S. Ekker, Joo-Seop Park, 2015, Arteriosclerosis, thrombosis, and vascular biology.

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

H. Rehm, Minjie Luo, Elizabeth Duffy, 2018, Clinical chemistry.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

I. Krantz, L. Medne, Minjie Luo, 2019, The Journal of molecular diagnostics : JMD.

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.

U. Pettersson, E. Jazin, J. Balciuniene, 1998, American journal of human genetics.

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

S. Selleck, Å. Borg, D. Avramopoulos, 2007, American journal of human genetics.

A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.

G. Holmgren, O. Sandgren, J. Balciuniene, 1995, Genomics.

Analysis of a conditional gene trap reveals that tbx5a is required for heart regeneration in zebrafish

D. Balciunas, Viktorija Grajevskaja, J. Balciuniene, 2018, PloS one.

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.

U. Pettersson, E. Jazin, P. Jalonen, 1999 .

Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients

N. Cairns, E. Jazin, J. Balciuniene, 2002, Neuroscience Letters.

Lime-free unhairing: part 3, influence of unhairing method on chemical, physical and mechanical properties of pelt and leather

J. Balciuniene, V. Valeika, K. Beleška, 2000 .

Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

D. Zarkower, J. Balciuniene, V. Bardwell, 2006, Molecular and Cellular Biology.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Global increases in both common and rare copy number load associated with autism

Scott B. Selleck, Rebecca L. Johnson, Carl Baker, 2013, Human molecular genetics.

Linkage analysis of candidate loci in families with recurrent major depression

K. Lindblad, M. Sundvall, U. Pettersson, 1998, Molecular Psychiatry.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Ethan M. Goldberg, N. Spinner, I. Helbig, 2019, JAMA network open.

Linkage analysis of a large Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23.

U. Pettersson, E. Jazin, E. Lindholm, 1999, American journal of medical genetics.

Genetic studies of two inherited human phenotypes : hearing loss and monoamine oxidase activity.

J. Balciuniene, 2001 .

Investigation of the functional effect of monoamine oxidase polymorphisms in human brain

U. Pettersson, U. Pettersson, E. Jazin, 2001, Human Genetics.

The Geographic Distribution of Monoamine Oxidase Haplotypes Supports a Bottleneck During the Dispersion of Modern Humans from Africa

A. Syvänen, H. McLeod, U. Pettersson, 2001, Journal of Molecular Evolution.

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

E. Zackai, I. Helbig, G. Akgumus, 2018, Epilepsy Research.

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel.

Mahdi Sarmady, Perry Evans, Rojeen Niazi, 2018, The Journal of molecular diagnostics : JMD.

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Targeted transgene integration overcomes variability of position effects in zebrafish

E. Stupka, D. Balciunas, I. Miguel-Escalada, 2014, Development.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes

U. Pettersson, E. Jazin, P. Jalonen, 1999, Human Genetics.

Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics.

C. Wadelius, P. Magnusson, U. Gyllensten, 1996, Genome research.

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

E. Zackai, P. Kaplan, I. Krantz, 2018, American journal of medical genetics. Part A.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

A. Hoischen, I. V. van Rooij, H. Brunner, 2021, Clinical genetics.

Efficient disruption of Zebrafish genes using a Gal4-containing gene trap

D. Balciunas, D. Georlette, J. Balciuniene, 2013, BMC Genomics.

A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

D. Balciunas, J. Balciuniene, 2019, Frontiers in Genetics.

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Marni J. Falk, N. Spinner, R. Ganetzky, 2021, Molecular genetics and metabolism.

Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders?

K. Lindblad, C. Ross, U. Pettersson, 1998, Molecular Psychiatry.

Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish

D. Balciunas, S. Shinton, R. Hardy, 2015, PloS one.

Lime-free unhairing: Part 5. Some peculiarities of dyeing lime-free leather

J. Balciuniene, A. Žaliauskienė, V. Valeika, 2006 .

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

P. Mantecca, S. Confalonieri, J. Balciuniene, 2023, Journal of neuroscience research.

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

I. Krantz, B. Devkota, Minjie Luo, 2023, The Journal of pediatrics.

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

Lora J. H. Bean, J. Balciuniene, Cristina da Silva, 2023, JAMA network open.

Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 990 Genetic Studies of Two Inherited Human Phenotypes: Hearing Loss and Monoamine Oxidase Activity

J. Balciuniene, R. Frost, Jazin E, 2022 .

SideRack: a cost-effective addition to commercial zebrafish housing systems.

D. Balciunas, J. Balciuniene, Ryan Gill, 2014, Zebrafish.

Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

D. Balciunas, Viktorija Grajevskaja, J. Balciuniene, 2013, Molecular Genetics and Genomics.

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

H. Rehm, Elizabeth Duffy, Rojeen Niazi, 2018, Clinical chemistry.