Putative protective genomic variation in the Lithuanian population
Žukauskaitė, Gabrielė, Domarkienė, Ingrida, Rančelis, Tautvydas, Kavaliauskienė, Ingrida, Baronas, Karolis, Kučinskas, Vaidutis, Ambrozaitytė, Laima
Published in Genetics and molecular biology (01.01.2024)
Published in Genetics and molecular biology (01.01.2024)
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Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
Siavriene, Evelina, Petraityte, Gunda, Burnyte, Birute, Morkuniene, Ausra, Mikstiene, Violeta, Rancelis, Tautvydas, Utkus, Algirdas, Kucinskas, Vaidutis, Preiksaitiene, Egle
Published in BMC musculoskeletal disorders (04.12.2021)
Published in BMC musculoskeletal disorders (04.12.2021)
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A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2
Siavrienė, Evelina, Preikšaitienė, Eglė, Maldžienė, Živilė, Mikštienė, Violeta, Rančelis, Tautvydas, Ambrozaitytė, Laima, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis
Published in Gene (30.08.2020)
Published in Gene (30.08.2020)
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Journal Article
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome
Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Published in Medicina (Kaunas, Lithuania) (29.06.2023)
Published in Medicina (Kaunas, Lithuania) (29.06.2023)
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Journal Article
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation
Siavrienė, Evelina, Maldžienė, Živilė, Mikštienė, Violeta, Petraitytė, Gunda, Rančelis, Tautvydas, Dapkūnas, Justas, Burnytė, Birutė, Benušienė, Eglė, Sasnauskienė, Aušra, Grikinienė, Jurgita, Griškevičiūtė, Eglė, Utkus, Algirdas, Preikšaitienė, Eglė
Published in Medicina (Kaunas, Lithuania) (26.10.2022)
Published in Medicina (Kaunas, Lithuania) (26.10.2022)
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Journal Article
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Published in BMC medical genetics (17.07.2019)
Published in BMC medical genetics (17.07.2019)
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Journal Article
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Preiksaitiene, Egle, Voisin, Norine, Gueneau, Lucie, Benušienė, Eglė, Krasovskaja, Natalija, Blažytė, Evelina Marija, Ambrozaitytė, Laima, Rančelis, Tautvydas, Reymond, Alexandre, Kučinskas, Vaidutis
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report
Petraitytė, Gunda, Mikštienė, Violeta, Siavrienė, Evelina, Cimbalistienė, Loreta, Maldžienė, Živilė, Rančelis, Tautvydas, Vaitėnienė, Evelina Marija, Ambrozaitytė, Laima, Dapkūnas, Justas, Dzindzalieta, Ramūnas, Pranckevičienė, Erinija, Kučinskas, Vaidutis, Utkus, Algirdas, Preikšaitienė, Eglė
Published in Medicina (Kaunas, Lithuania) (26.02.2022)
Published in Medicina (Kaunas, Lithuania) (26.02.2022)
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Journal Article
CyberGenomics: Application of Behavioral Genetics in Cybersecurity
Domarkienė, Ingrida, Ambrozaitytė, Laima, Bukauskas, Linas, Rančelis, Tautvydas, Sütterlin, Stefan, Knox, Benjamin James, Maennel, Kaie, Maennel, Olaf, Parish, Karen, Lugo, Ricardo Gregorio, Brilingaitė, Agnė
Published in Behavioral sciences (01.11.2021)
Published in Behavioral sciences (01.11.2021)
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Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics
Rancelis, Tautvydas, Domarkiene, Ingrida, Ambrozaityte, Laima, Utkus, Algirdas
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Challenges in exome analysis by LifeScope and its alternative computational pipelines
Pranckevičiene, Erinija, Rančelis, Tautvydas, Pranculis, Aidas, Kučinskas, Vaidutis
Published in BMC research notes (07.09.2015)
Published in BMC research notes (07.09.2015)
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Journal Article
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
Siavrienė, Evelina, Mikštienė, Violeta, Radzevičius, Darius, Maldžienė, Živilė, Rančelis, Tautvydas, Petraitytė, Gunda, Tamulytė, Giedrė, Kavaliauskienė, Ingrida, Šarkinas, Laurynas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Journal Article
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
Preikšaitienė, Eglė, Ambrozaitytė, Laima, Maldžienė, Živilė, Morkūnienė, Aušra, Cimbalistienė, Loreta, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis
Published in Acta medica Lituanica (01.01.2016)
Published in Acta medica Lituanica (01.01.2016)
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Journal Article
Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing
RANCELIS, TAUTVYDAS, ARASIMAVICIUS, JUSTAS, AMBROZAITYTE, LAIMA, KAVALIAUSKIENE, INGRIDA, DOMARKIENE, INGRIDA, KARCIAUSKAITE, DOVILE, KUCINSKIENE, ZITA AUSRELE, KUCINSKAS, VAIDUTIS
Published in Genetical research (30.08.2017)
Published in Genetical research (30.08.2017)
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Journal Article
Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in IMED13L/I Haploinsufficiency Syndrome
Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Maldžienė, Živilė, Sasnauskienė, Aušra, Žitkutė, Vilmantė, Ambrozaitytė, Laima, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Published in Medicina (Kaunas, Lithuania) (01.06.2023)
Published in Medicina (Kaunas, Lithuania) (01.06.2023)
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Journal Article
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
Mikstiene, Violeta, Jakaitiene, Audrone, Byckova, Jekaterina, Gradauskiene, Egle, Preiksaitiene, Egle, Burnyte, Birute, Tumiene, Birute, Matuleviciene, Ausra, Ambrozaityte, Laima, Uktveryte, Ingrida, Domarkiene, Ingrida, Rancelis, Tautvydas, Cimbalistiene, Loreta, Lesinskas, Eugenijus, Kucinskas, Vaidutis, Utkus, Algirdas
Published in BMC genetics (19.02.2016)
Published in BMC genetics (19.02.2016)
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Journal Article
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report
Petraitytė, Gunda, Mikštienė, Violeta, Siavrienė, Evelina, Cimbalistienė, Loreta, Maldžienė, Živilė, Rančelis, Tautvydas, Vaitėnienė, Evelina Marija, Ambrozaitytė, Laima, Dapkūnas, Justas, Dzindzalieta, Ramūnas, Pranckevičienė, Erinija, Kučinskas, Vaidutis, Utkus, Algirdas, Preikšaitienė, Eglė
Published in Medicina (Kaunas, Lithuania) (26.02.2022)
Published in Medicina (Kaunas, Lithuania) (26.02.2022)
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