V. Kučinskas

发表

Ancient human genomes suggest three ancestral populations for present-day Europeans

Bonnie Berger, Swapan Mallick, Janet Kelso, 2013, Nature.

Ancient human genomes suggest three ancestral populations for present-day Europeans

B. Berger, M. Hammer, E. Eichler, 2013, Nature.

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.

R J Mitchell, S A Kravchenko, R. J. Mitchell, 2000, American journal of human genetics.

Biological Insights From 108 Schizophrenia-Associated Genetic Loci

C. Spencer, K. Davis, P. Visscher, 2014, Nature.

Genetic Structure of Europeans: A View from the North–East

R. Mägi, L. Peltonen, X. Estivill, 2009, PloS one.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

John P. Rice, Melissa J. Green, Robert C. Thompson, 2017, Cell.

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

V. Kučinskas, A. Utkus, Evelina Siavrienė, 2019, BMC Medical Genetics.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

P. Guldberg, G. Bertorelle, F. Calì, 2003, Human mutation.

Diagnostic Testing in Epilepsy Genetics Clinical Practice

B. Peterlin, V. Kučinskas, A. Maver, 2017 .

Ethnic Variation in the Mitochondrial Targeting Sequence Polymorphism of MnSOD

V. Kučinskas, G. Beckman, N. Saha, 1999, Human Heredity.

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.

L. Kupčinskas, R. Sakalauskas, R. Naginienė, 2008, World journal of gastroenterology.

Recent common origin, reduced population size, and marked admixture have shaped European Roma genomes.

M. Netea, D. Comas, J. Bertranpetit, 2020, Molecular biology and evolution.

Patient with syndromic cleft lip-palate , mosaic karyotype and cytogenetically abnormal brother

V. Kučinskas, Vytautas Šliužas, L. Cimbalistienė, 2006 .

Sex-biased patterns shaped the genetic history of Roma

M. Netea, D. Comas, J. Bertranpetit, 2020, Scientific Reports.

Dietary lycopene and cardiovascular health in ethnic Lithuanians

V. Kučinskas, Z. Kučinskienė, A. Jakaitienė, 2016 .

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

John P. Rice, Melissa J. Green, Robert C. Thompson, 2017, Cell.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

John P. Rice, Melissa J. Green, Robert C. Thompson, 2017, Cell.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Heterogeneity of nutritional habits of Lithuanian ethnolinguistic groups: population-based study

V. Kučinskas, A. Jakaitienė, V. Kasiulevičius, 2016, Acta medica Lituanica.

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

V. Kučinskas, A. Jakaitienė, A. Utkus, 2016, Biology of sport.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

M. Lee, E. Khusnutdinova, Á. Carracedo, 2016, PloS one.

Ancient human genomes suggest three ancestral populations for present-day Europeans

B. Berger, M. Hammer, E. Eichler, 2013, Nature.

CNV analysis in the Lithuanian population

V. Kučinskas, I. Uktverytė, V. Kasiulevičius, 2016, BMC Genetics.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

S. Gimelli, V. Kučinskas, O. Zuffardi, 2007, Journal of Medical Genetics.

Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate.

A. Metspalu, K. Krjutškov, T. Jagomägi, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients

M. Nöthen, A. Metspalu, P. Hoffmann, 2009, American journal of medical genetics. Part A.

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability

V. Kučinskas, J. Kasnauskienė, A. Utkus, 2013, American journal of medical genetics. Part A.

Genomic control process: development and evolution

V. Kučinskas, E. Preiksaitiene, 2015, European Journal of Human Genetics.

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

V. Kučinskas, Erinija Pranckevičienė, A. Utkus, 2017, Ophthalmic genetics.

Recombinant chromosome 14 due to maternal pericentric inversion

V. Kučinskas, A. Utkus, Vytautas Šliužas, 2010, Journal of Applied Genetics.

Array CGH analysis of a cohort of Russian patients with intellectual disability.

V. Kučinskas, G. Romeo, E. Sazhenova, 2014, Gene.

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

V. Kučinskas, R. Janavicius, Ingrida Pepalytė, 2009, Breast Cancer Research and Treatment.

Challenges in exome analysis by LifeScope and its alternative computational pipelines

V. Kučinskas, Erinija Pranckevičienė, Tautvydas Rancelis, 2015, BMC Research Notes.

Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations

V. Kučinskas, J. Kasnauskienė, L. Cimbalistienė, 2008, Russian Journal of Genetics.

α1-Antitrypsin (PI) Alleles as Markers of Westeuropean Influence in the Baltic Sea Region

V. Kučinskas, G. Beckman, L. Beckman, 1999, Human Heredity.

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

C. Sismani, V. Kučinskas, P. Patsalis, 2011, American journal of medical genetics. Part A.

Insights Into de novo Mutation Variation in Lithuanian Exome

V. Kučinskas, A. Jakaitienė, L. Ambrozaitytė, 2018, Front. Genet..

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

V. Kučinskas, J. Kasnauskienė, A. Utkus, 2012, Cytogenetic and Genome Research.

Considering specific clinical features as evidence of pathogenic copy number variants

V. Kučinskas, P. Patsalis, J. Kasnauskienė, 2014, Journal of Applied Genetics.

Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients

S. Bhattacharya, V. Kučinskas, D. Ambrasienė, 1999, Human Heredity.

Low Frequency of the ΔF508 Mutation in Finno-Ugrian and Baltic Populations

V. Kučinskas, C. Wennberg, 1994 .

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

M. Devoto, L. Kalaydjieva, B. Dworniczak, 1991, Journal of medical genetics.

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

T. Eggermann, V. Kučinskas, M. Begemann, 2016, BMC Medical Genetics.

Allele Frequency Analysis Suggests Potentially Protective Effect in the Lithuanian Population

V. Kučinskas, Tautvydas Rancelis, L. Ambrozaitytė, 2020 .

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

J. Kładny, A. Jakubowska, K. Safranow, 2002, Journal of medical genetics.

Clinical, cytogenetic and molecular study of a case of ring chromosome 10

V. Kučinskas, Evelina Dagytė, A. Utkus, 2015, Molecular Cytogenetics.

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

V. Kučinskas, A. Krūmiņa, A. Utkus, 2014, Stomatologija.

Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.

A. Metspalu, K. Krjutškov, T. Jagomägi, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Silent mutations inthephenylalanine hydroxylase gene asan aidtothediagnosis ofphenylketonuria

M. Devoto, L. Kalaydjieva, B. Dworniczak, 1991 .

Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment.

V. Kučinskas, R. Jusienė, 2004, Medicina.

Novel Androgen Receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome.

V. Kučinskas, A. Utkus, E. Preiksaitiene, 2019, Journal of pediatric and adolescent gynecology.

Correction: Genetic Structure of Europeans: A View from the North–East

R. Mägi, L. Peltonen, X. Estivill, 2010, PLoS ONE.

Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

C. Tyler-Smith, P. Rudan, M. Möls, 2015, PloS one.

Pharmacogenomics: a perspective of personalized medicine in CHD treatment as a model

V. Kučinskas, Z. Kučinskienė, A. Pranculis, 2011 .

Age at first birth in women is genetically associated with increased risk of schizophrenia

Hoffmann, Hartmann, Roussos, 2017, Scientific Reports.

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

L. Peltonen, M. Parmentier, A. Czeizel, 1998, Human molecular genetics.

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

L. Kalaydjieva, B. Dworniczak, V. Kučinskas, 1991, Human Genetics.

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.

V. Kučinskas, V. Mikštienė, E. Preiksaitiene, 2016, Taiwanese journal of obstetrics & gynecology.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

X. Estivill, J. Zieleński, T. Dörk, 2000, Human Genetics.

Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16

V. Kučinskas, O. Haus, M. Constantinou, 2004, Clinical genetics.

Association study of taste preference: Analysis in the Lithuanian population

V. Kučinskas, A. Irnius, L. Ambrozaitytė, 2021, Food science & nutrition.

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Michael F. Green, Max W. Y. Lam, Catherine A. Sugar, 2022, Nature.

Origins and divergence of the Roma (gypsies).

P. Underhill, P. Shen, P. Oefner, 2001, American journal of human genetics.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

N. Guex, A. Reymond, I. Xenarios, 2017, American journal of human genetics.

A polygenic resilience score moderates the genetic risk for schizophrenia.

M. Pirinen, P. Donnelly, C. Spencer, 2019, Molecular psychiatry.

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Benjamin A. Logsdon, Hae Kyung Im, Solveig K Sieberts, 2019, Nature Genetics.

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

John P. Rice, Robert M. Maier, C. Spencer, 2020, Biological Psychiatry.

Geographical, linguistic, and cultural influences on genetic diversity: Y-chromosomal distribution in Northern European populations.

C. Tyler-Smith, M. Hurles, T. Zerjal, 2001, Molecular biology and evolution.

Genome-Wide Landscape of North-Eastern European Populations: A View from Lithuania

V. Kučinskas, A. Molyte, A. Urnikytė, 2021, Genes.

Inferring Effective Population Size and Divergence Time in the Lithuanian Population According to High-Density Genotyping Data

V. Kučinskas, Z. Kučinskienė, Erinija Pranckevičienė, 2020, Genes.

A comparative analysis of mathematical methods for effective population size estimation

V. Kučinskas, A. Molyte, A. Urnikytė, 2016 .

Reconstructing the Population History of European Romani from Genome-wide Data

M. Netea, R. Kaneva, A. Metspalu, 2012, Current Biology.

Y Chromosome and Mitochondrial DNA Variation in Lithuanians

M. Stoneking, D. Kasperavičiūtė, V. Kučinskas, 2004, Annals of human genetics.

Chromosome and Mitochondrial DNA Variation in

M. Stoneking, D. Kasperavičiūtė, V. Kučinskas, 2004 .

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene

M. Punab, A. Khrunin, S. Limborska, 2017, Human Heredity.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

V. Kučinskas, A. Krūmiņa, A. Utkus, 2016, BMC Musculoskeletal Disorders.

Variability of the human mitochondrial DNA control region sequences in the Lithuanian population.

D. Kasperavičiūtė, V. Kučinskas, 2002, Journal of applied genetics.

The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability

V. Kučinskas, Laura Pranckėnienė, 2021, European Journal of Human Genetics.

The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability

V. Kučinskas, Laura Pranckėnienė, 2021, European journal of human genetics : EJHG.

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

A. Reymond, V. Kučinskas, L. Gueneau, 2019, Molecular genetics & genomic medicine.

Y‐Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern‐Baltic Region

K. Tambets, V. Kučinskas, S. Rootsi, 2015, Annals of human genetics.

Challenges in exome analysis by LifeScope and its alternative computational pipelines

V. Kučinskas, Erinija Pranckevičienė, Tautvydas Rancelis, 2015, BMC Research Notes.

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

R. Mameniškienė, V. Kučinskas, A. Utkus, 2017, Journal of Applied Genetics.

Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion

V. Kučinskas, A. Utkus, E. Preiksaitiene, 2014, Cytogenetic and Genome Research.

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

A. Reymond, V. Kučinskas, L. Gueneau, 2019, Genomics insights.

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.

K. Michalová, V. Kučinskas, B. Pieńkowska-Grela, 2004, Annales de genetique.

Considering specific clinical features as evidence of pathogenic copy number variants

V. Kučinskas, P. Patsalis, J. Kasnauskienė, 2014, Journal of Applied Genetics.

Complement genes contribute sex-biased vulnerability in diverse illnesses

Simon C. Potter, Christopher W. Whelan, M. Pirinen, 2020, Nature.

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

X. Estivill, S. Antonarakis, T. Meitinger, 2012, European Journal of Human Genetics.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

V. Kučinskas, I. Uktverytė, E. Lesinskas, 2016, BMC Genetics.

NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

K. Zerres, T. Eggermann, V. Kučinskas, 2017, Clinical genetics.

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

P. Lønning, D. Charlesworth, L. Aaltonen, 2014, Oncotarget.

Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches

V. Kučinskas, E. Preiksaitiene, Irma Kalibataitė, 2013 .

A de novo 13q31.3 microduplication encompassing the miR-17∼92 cluster results in features mirroring those associated with Feingold syndrome 2.

A. Reymond, V. Kučinskas, L. Gueneau, 2020, Gene.

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies

V. Kučinskas, A. Utkus, V. Mikštienė, 2017, Medicine.

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

V. Kučinskas, A. Utkus, Evelina Siavrienė, 2019, Molecular genetics & genomic medicine.

National scientific medical meeting 1995 abstracts

G. R. Fitzgerald, W. K. Cullen, M. Rowan, 1995, Irish journal of medical science.

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

C. Sismani, V. Kučinskas, P. Patsalis, 2012, European journal of medical genetics.

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity

V. Kučinskas, P. Patsalis, J. Kasnauskienė, 2011, Journal of Applied Genetics.

Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

V. Kučinskas, Tautvydas Rancelis, L. Cimbalistienė, 2013 .

Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

V. Kučinskas, Z. Kučinskienė, Tautvydas Rancelis, 2017, Genetics research.

Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study.

V. Kučinskas, I. Uktverytė, Z. Kučinskienė, 2017, Advances in medical sciences.

Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes

V. Kučinskas, I. Domarkienė, I. Pilypienė, 2022, The journal of obstetrics and gynaecology research.

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy

V. Kučinskas, A. Utkus, A. Morkūnienė, 2016, Clinical dysmorphology.

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

V. Kučinskas, A. Utkus, Tautvydas Rancelis, 2016, Acta medica Lituanica.

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

V. Kučinskas, A. Utkus, Evelina Siavrienė, 2021, BMC Musculoskeletal Disorders.

Clinical and molecular characterization of a second case of 7p22.1 microduplication

V. Kučinskas, P. Patsalis, J. Kasnauskienė, 2012, American journal of medical genetics. Part A.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

V. Kučinskas, Erinija Pranckevičienė, A. Utkus, 2022, Medicina.

A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

V. Kučinskas, A. Utkus, A. Morkūnienė, 2016, Balkan journal of medical genetics : BJMG.

Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia

V. Kučinskas, J. Kasnauskienė, L. Cimbalistienė, 2012 .

Mutation history of the roma/gypsies.

Jeff P. Reeve, J. Reeve, A. Tordai, 2004, American journal of human genetics.

New DNA Polymorphisms Define Ethnically Distinct Haplotypes in the Human Transferrin Receptor Gene

V. Kučinskas, N. Saha, G. V. van Landeghem, 1998, Human Heredity.

Rheumatoid arthritis in Poland and Lithuania: different clinical course and HLA associations despite similar genetic background

R. Płoski, V. Kučinskas, A. Venalis, 2004, Annals of the rheumatic diseases.

Nucleotide sequence changes in the MSX1 and IRF6 genes in Lithuanian patients with nonsyndromic orofacial clefting

V. Kučinskas, J. Kasnauskienė, A. Morkūnienė, 2006 .

Recent effective population size estimated from segments of identity by descent in the Lithuanian population

V. Kučinskas, A. Molyte, A. Urnikytė, 2017 .

formationchromosomes. Clues to the mechanisms of are present in a proportion of ring Duplications in addition to terminal deletions

S. Perrotta, V. Kučinskas, A. Schinzel, 2007 .

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

K. Huoponen, V. Kučinskas, L. Cimbalistienė, 2010, Journal of Applied Genetics.

Genetic diversity in the Lithuanian rural population as illustrated by variation in the ABO and Rh(D) blood groups.

V. Kučinskas, M. Rasmuson, J. Radikas, 1994, Human Heredity.

Population genetics of Lithuanians

V. Kučinskas, 2001 .

The most common technologies and tools for functional genome analysis

V. Kučinskas, Evelina Gasperskaja, Vaidutis Kučinskas, 2017, Acta medica Lituanica.

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Kristen K. Dang, D. A. Lewis, C. Spencer, 2019, Nature Genetics.

Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers

V. Kučinskas, G. Smailytė, L. Ambrozaitytė, 2021, Genes.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

V. Kučinskas, A. Utkus, Živilė Maldžienė, 2017, Cytogenetic and Genome Research.

Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift

V. Kučinskas, A. Molyte, A. Urnikytė, 2022, Genes.

Complement genes contribute sex-biased vulnerability in diverse disorders

Christopher W. Whelan, M. Pirinen, C. Spencer, 2020, Nature.

Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort

V. Kučinskas, Tautvydas Rancelis, L. Ambrozaitytė, 2018, Acta medica Lituanica.

Heterogeneity of oral clefts in relation to associated congenital anomalies.

V. Kučinskas, A. Utkus, E. Preiksaitiene, 2013, Medicina.

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania

V. Kučinskas, A. Utkus, A. Morkūnienė, 2010, Journal of Applied Genetics.

Orofacial clefts with associated anomalies in Lithuania

V. Kučinskas, A. Utkus, A. Matulevičienė, 2007 .

Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants

A. Reymond, V. Kučinskas, F. Mattioli, 2021, American journal of medical genetics. Part A.

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

V. Kučinskas, A. Kurg, J. Kasnauskienė, 2012, European journal of medical genetics.

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome

V. Kučinskas, J. Kasnauskienė, A. Utkus, 2015, Clinical dysmorphology.

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

A. Reymond, V. Kučinskas, A. Utkus, 2017, European journal of medical genetics.

The LWb Blood Group as a Marker of Prehistoric Baltic Migrations and Admixture

P. Sistonen, V. Kučinskas, L. Beckman, 1999, Human Heredity.

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.

J. Opitz, V. Kučinskas, J. Beckwith, 2001, American journal of medical genetics.

Diversity of human chromosome structural rearrangements identified at the Center for Medical Genetics in 2002–2007

V. Kučinskas, Vytautas Šliužas, Ž. Čiuladaitė, 2008 .

RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families

V. Kučinskas, Z. Kučinskienė, A. Jakaitienė, 2013, Balkan journal of medical genetics : BJMG.

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.

V. Kučinskas, E. Benušienė, 2003, Journal of applied genetics.

Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria.

V. Kučinskas, R. Jusienė, 2004, Medical science monitor : international medical journal of experimental and clinical research.

New associations of serum β‐carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes

V. Kučinskas, Z. Kučinskienė, A. Mažeikienė, 2022, Food science & nutrition.

Atherosclerosis: alterations in cell communication

V. Kučinskas, Z. Kučinskienė, A. Timinskas, 2007 .

CNV analysis in the Lithuanian population

V. Kučinskas, I. Uktverytė, V. Kasiulevičius, 2016, BMC Genetics.

Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes.

V. Kučinskas, A. Jakaitienė, V. Ginevičienė, 2011, Medicina.

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

L. Brečević, V. Kučinskas, A. Schinzel, 1999, Journal of medical genetics.

Gene variants related to the power performance of the Lithuanian athletes

V. Kučinskas, Erinija Pranckevičienė, V. Ginevičienė, 2011, Central European Journal of Biology.

Relating fi tness phenotypes to genotypes in Lithuanian elite athletes

V. Kučinskas, 2010 .

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

John P. Rice, Simon C. Potter, Melissa J. Green, 2018, Cell.

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

Han Xu, Stephan Ripke, Chongzhi Zang, 2014, American journal of human genetics.

Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data

D. Comas, F. Calafell, M. Mondal, 2019, Scientific Reports.

Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster

V. Kučinskas, L. Ambrozaitytė, I. Domarkienė, 2023, Current issues in molecular biology.

Biological Insights From 108 Schizophrenia-Associated Genetic Loci

C. Spencer, K. Davis, P. Visscher, 2014, Nature.

Y-chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

R. J. Mitchell, C. Tyler-Smith, M. Hurles, 2022 .

Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.

V. Kučinskas, E. Benušienė, 2000, Medical science monitor : international medical journal of experimental and clinical research.

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

A. Reymond, V. Kučinskas, L. Gueneau, 2019, American journal of medical genetics. Part A.

Variation in the ACE, PPARGC1A and PPARA genes in Lithuanian football players

V. Kučinskas, A. Jakaitienė, V. Ginevičienė, 2014, European journal of sport science.

Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.

E. Marra, V. Kučinskas, S. Giannattasio, 2006, Genetic testing.

Transferrin Variants as Markers of Migrations and Admixture between Populations in the Baltic Sea Region

V. Kučinskas, G. Beckman, L. Beckman, 1998, Human Heredity.

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome

V. Kučinskas, A. Utkus, Evelina Siavrienė, 2023, Medicina.

Microevolutionary processes analysis in the Lithuanian genome

V. Kučinskas, A. Urnikytė, Laura Pranckėnienė, 2023, Scientific reports.

Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data

D. Comas, F. Calafell, E. Bosch, 2019, Scientific Reports.

Familial Distal Monosomy 5p15.3-pter With Trisomy 12q24.2-qter Resulting in Neurodevelopmental Delay and Dysmorphic Features

V. Kučinskas, J. Kasnauskienė, A. Brazaitis, 2014, Journal of child neurology.

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

N. Wray, H. Stefánsson, D. Rujescu, 2019, Nature Genetics.

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts.

John P. Rice, Warren W. Kretzschmar, Robert M. Maier, 2021, Biological psychiatry.

Age at first birth in women is genetically associated with increased risk of schizophrenia

Eric, H. Stefánsson, S. Steinberg, 2020 .

Disentangling archaic introgression and genomic signatures of selection at human immunity genes.

V. Kučinskas, A. Urnikytė, Laura Pranckėnienė, 2023, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

A comparative analysis of mathematical methods for homogeneity estimation of the Lithuanian population.

Alma Molytė, Alina Urnikytė, Vaidutis Kučinskas, 2020, Acta medica Lituanica.

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

M. Pirinen, C. Freeman, P. Deloukas, 2020 .

The molecular basis of phenylketonuria in Lithuania

V. Kučinskas, S. Giannattasio, J. Kasnauskienė, 2003, Human mutation.