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American Journal of Medical Genetics. Part A|December 31, 2013
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 regionKristi Simenson, Eve Õiglane-Shlik, Rita Teek, et al.
European Journal of Pediatrics|September 22, 2009
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literatureIngrid Kalev, Kai Muru, Rita Teek, et al.
European Journal of Medical Genetics|November 6, 2008
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing lossHelen Puusepp, Olga Zilina, Rita Teek, et al.
International Journal of Pediatric Otorhinolaryngology|August 17, 2010
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in EstoniaRita Teek, Katrin Kruustük, Riina Zordania, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experienceOlga Zilina, Rita Teek, Pille Tammur, et al.
Genetic Testing and Molecular Biomarkers|October 28, 2015
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann SyndromeMari-Anne Vals, Maria Yakoreva, Tiina Kahre, et al.
International Journal of Pediatric Otorhinolaryngology|November 26, 2008
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing lossRita Teek, Eneli Oitmaa, Katrin Kruustük, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 18, 2014
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalitiesEve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, et al.
Forensic Science International. Genetics|December 2, 2009
Evaluation of the 124-plex SNP typing microarray for forensic testingKaarel Krjutskov, Triin Viltrop, Priit Palta, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyKarit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
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