In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Masoud Zamani Esteki, Triin Viltrop, Olga Tšuiko, +18

Nature Medicine

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

Olga Tšuiko, Margit Nõukas, Olga Žilina, +8

Human Reproduction

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou, +7

European Journal of Medical Genetics

Down SyndromeChromatinDevelopmental BiologyMendelian DisorderPsychiatry +10

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Mari‐Anne Vals, Tiina Kahre, Pille Mee, +5

Molecular Syndromology

Beckwith-wiedemann SyndromeDevelopmental AnomalyBeckwith-wiedemann SyndromesDevelopmental BiologySilver-russell Syndrome +13

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Melanie Leffler, Sanna Puusepp, Olga Žilina, +6

European Journal of Medical Genetics

Normal Copy NumberDevelopmental BiologyMendelian DisorderVariable Intellectual DisabilityGenetic Disorder +7

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Eve Õiglane‐Shlik, Sanna Puusepp, Inga Talvik, +8

European Journal of Paediatric Neurology

Maternally and paternally inherited deletion of 7q31 involving the <i>FOXP2</i> gene in two families

Olga Žilina, Tiia Reimand, Polina Zjablovskaja, +6

American Journal of Medical Genetics Part A

Gene Deletion DataPlease NoteDevelopmental BiologyEngineeringGenetic Disorder +12

Chromosomal microarray analysis as a first‐tier clinical diagnostic test: <scp>E</scp>stonian experience

Olga Žilina, Rita Teek, Pille Tammur, +7

Molecular Genetics & Genomic Medicine

Family MedicineGenetic TestingEngineeringGeneticsDna Microarrays +21

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Olga Žilina, Marina Koltšina, Raivo Raid, +3

BMC Genomics

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Martin Sauk, Olga Žilina, Ants Kurg, +11

Scientific Reports