J. Kasnauskienė

Most-cited papers

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

   M. Nelis, T. Esko, R. Mägi, F. Zimprich +41 more

   2009PLoS ONE453 citations Open access

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

   J. Kasnauskienė, Ž. Čiuladaitė, E. Preiksaitiene, A. Utkus +2 more

   2013American Journal of Medical Genetics. Part A30 citations

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3. The molecular basis of phenylketonuria in Lithuania

   J. Kasnauskienė, S. Giannattasio, P. Lattanzio, L. Cimbalistienė +1 more

   2003Human Mutation25 citations Open access

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

   E. Preiksaitiene, J. Kasnauskienė, Ž. Čiuladaitė, Birutė Tumienė +2 more

   2012American Journal of Medical Genetics. Part A22 citations Open access

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5. Considering specific clinical features as evidence of pathogenic copy number variants

   E. Preiksaitiene, Alma Molyte, J. Kasnauskienė, Ž. Čiuladaitė +3 more

   2014Journal of Applied Genetics21 citations Open access

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

   J. Kasnauskienė, Ž. Čiuladaitė, E. Preiksaitiene, A. Matulevičienė +6 more

   2012European Journal of Medical Genetics21 citations Open access

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

   Ž. Čiuladaitė, J. Kasnauskienė, L. Cimbalistienė, E. Preiksaitiene +2 more

   2011Journal of Applied Genetics18 citations Open access

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

   E. Preiksaitiene, K. Männik, V. Dirsė, A. Utkus +4 more

   2012European Journal of Medical Genetics14 citations Open access

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

   J. Kasnauskienė, L. Cimbalistienė, Ž. Čiuladaitė, E. Preiksaitiene +5 more

   2011American Journal of Medical Genetics. Part A12 citations Open access

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10. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.

    J. Kasnauskienė, L. Cimbalistienė, V. Kučinskas

    2003Medical Science Monitor11 citations

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

    E. Preiksaitiene, Alfonso Caro, E. Benušienė, S. Oltra +8 more

    2015American Journal of Medical Genetics. Part A9 citations

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

    E. Preiksaitiene, N. Krasovskaja, A. Utkus, J. Kasnauskienė +4 more

    2015Clinical Dysmorphology9 citations

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

    Aušra Morkūnienė, D. Steponavičiūtė, J. Kasnauskienė, V. Kučinskas

    20069 citations

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

    J. Kasnauskienė, L. Cimbalistienė, A. Utkus, Ž. Čiuladaitė +3 more

    2012Cytogenetic and Genome Research4 citations

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15. Relevance of nasal potential difference in diagnosis of cystic fibrosis among children.

    A. Valiulis, Iveta Skurvydienė, V. Miseviciene, J. Kasnauskienė +2 more

    2013Medicina3 citations Open access

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

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

    20122 citations Open access

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

    M. Nelis, T. Esko, R. Mägi, F. Zimprich +41 more

    2010PLoS ONE2 citations Open access

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

    Ž. Čiuladaitė, A. Matulevičienė, Aušra Bandanskytė, A. Brazaitis +2 more

    2014Journal of Child Neurology1 citations

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19. EGFR Mutations Status For Non-Small-Cell Lung Cancer Patients

    Ieva Mirskytė, J. Kasnauskienė, A. Česas, Loreta Radvinskienė

    20160 citations Open access

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20. Safety And Toxicity Combining Radiation Therapy With A Biologic Therapy In Locally Advanced Head And Neck Squamous Cell Cancer At The Klaipeda University Hospital Clinical Practice

    J. Remeikienė, A. Plieskienė, A. Česas, J. Kasnauskienė

    20160 citations Open access

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21. Locally Advanced or Metastatic Lung Adenocarcinomas with Egfr Mutantions. Treatment Experience and Advers Events

    A. Česas, Aušra Bankauskaitė, Jolanta Česienė, J. Kasnauskienė

    20140 citations Open access

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22. Establishing the Genetic Diagnosis in Patients with Intellectual Disability: a Case Report of Phelan-Mcdermid Syndrome

    E. Preiksaitiene, A. Utkus, Ž. Čiuladaitė, J. Kasnauskienė +1 more

    20120 citations

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23. Molecular Karyotyping and Genetic Etiology of Intellectual Disability: Case Reports

    Ž. Čiuladaitė, E. Preiksaitiene, J. Kasnauskienė, A. Utkus +7 more

    20120 citations

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