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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 E, Preikšaitienė E, Maldžienė Ž, Mikštienė V, Rančelis T, Ambrozaitytė L, Gueneau L, Reymond A, Kučinskas V. Siavrienė E, et al. Among authors: Rancelis T. Gene. 2020 Aug 30;753:144816. doi: 10.1016/j.gene.2020.144816. Epub 2020 May 27. Gene. 2020. PMID: 32473250
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: Rancelis T. BMC Med Genet. 2019 Jul 17;20(1):127. doi: 10.1186/s12881-019-0859-y. BMC Med Genet. 2019. PMID: 31315586 Free PMC article.
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E, Mikštienė V, Radzevičius D, Maldžienė Ž, Rančelis T, Petraitytė G, Tamulytė G, Kavaliauskienė I, Šarkinas L, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Among authors: Rancelis T. Mol Genet Genomic Med. 2019 Sep;7(9):e878. doi: 10.1002/mgg3.878. Epub 2019 Jul 20. Mol Genet Genomic Med. 2019. PMID: 31325247 Free PMC article.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Preiksaitiene E, Voisin N, Gueneau L, Benušienė E, Krasovskaja N, Blažytė EM, Ambrozaitytė L, Rančelis T, Reymond A, Kučinskas V. Preiksaitiene E, et al. Among authors: Rancelis T. Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833209
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Preikšaitienė E, Ambrozaitytė L, Maldžienė Ž, Morkūnienė A, Cimbalistienė L, Rančelis T, Utkus A, Kučinskas V. Preikšaitienė E, et al. Among authors: Rancelis T. Acta Med Litu. 2016;23(2):73-85. doi: 10.6001/actamedica.v23i2.3324. Acta Med Litu. 2016. PMID: 28356794 Free PMC article.
Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.
Baronas K, Rančelis T, Pranculis A, Domarkienė I, Ambrozaitytė L, Kučinskas V. Baronas K, et al. Among authors: Rancelis T. Acta Med Litu. 2018;25(1):7-13. doi: 10.6001/actamedica.v25i1.3698. Acta Med Litu. 2018. PMID: 29928152 Free PMC article.
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A. Mikstiene V, et al. Among authors: Rancelis T. BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9. BMC Genet. 2016. PMID: 26896187 Free PMC article. Clinical Trial.
Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
Rančelis T, Arasimavičius J, Ambrozaitytė L, Kavaliauskienė I, Domarkienė I, Karčiauskaitė D, Kučinskienė ZA, Kučinskas V. Rančelis T, et al. Genet Res (Camb). 2017 Aug 30;99:e6. doi: 10.1017/S0016672317000040. Genet Res (Camb). 2017. PMID: 28851476 Free PMC article.
Challenges in exome analysis by LifeScope and its alternative computational pipelines.
Pranckevičiene E, Rančelis T, Pranculis A, Kučinskas V. Pranckevičiene E, et al. Among authors: Rancelis T. BMC Res Notes. 2015 Sep 7;8:421. doi: 10.1186/s13104-015-1385-4. BMC Res Notes. 2015. PMID: 26346699 Free PMC article.
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