List of works - Egle Preiksaitiene

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay

scientific article published on 01 October 2019

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

scientific article published on 01 August 2020

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

scientific article published on 16 April 2020

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

scientific article published on 27 May 2020

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

scientific article published on 9 February 2018

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

scientific article published on 23 February 2017

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

scientific article published on April 30, 2013

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

scientific article published on 17 July 2019

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

scientific article published on 21 April 2015

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

scientific article published on March 6, 2012

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

scientific article published on 11 April 2012

Considering specific clinical features as evidence of pathogenic copy number variants

scientific article published on 18 February 2014

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

scientific article published on October 1, 2011

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

scientific article published on 19 October 2019

Duplication in the Gene Associated With Severe CHARGE Syndrome

article

ETV6 and NOTCH1 germline variants in adult acute leukemia

scientific article published on 04 August 2017

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

scientific article published on 23 November 2016

Genomic control process: development and evolution

scientific article published on 18 November 2015

Heterogeneity of oral clefts in relation to associated congenital anomalies

scientific article published in January 2013

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

scientific article published on 01 January 2016

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

scientific article published on 9 January 2017

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

scientific article published on 27 December 2017

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

scientific article published on September 20, 2011

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

scientific article published on 28 January 2021

Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

scientific article published on 08 August 2019

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

scientific article published on 20 July 2019

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

scientific article published on 12 December 2019

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

scientific article

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

scientific article published on 01 June 2016

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

scientific article published on 15 November 2014

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings

scientific article published on 24 November 2015

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

scientific article published on 10 June 2020

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

scientific article published on 19 February 2016

Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy - a Case Report