List of works - Sander Pajusalu

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

scientific article published on 18 May 2018

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

article

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

scientific article published on 11 June 2019

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

scientific article published on 24 October 2020

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

scientific article published on 26 June 2019

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

scientific article published on 17 January 2018

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

scientific article published on 3 December 2015

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

scientific article published on 10 November 2018

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

scientific article published on 15 March 2018

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

article

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

scientific article published on 08 August 2019

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

scientific article published on 05 February 2020

Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice.

scientific article published on 3 February 2018

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

scientific article published on 5 April 2017

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

scientific article published on 20 January 2021

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

scientific article published on 05 April 2015

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

scientific article published on 17 May 2019

POLRMT mutations impair mitochondrial transcription causing neurological disease

scientific article published on 18 February 2021

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

scientific article

Three families with mild PMM2-CDG and normal cognitive development

scientific article published on 19 April 2017

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

scientific article published on 08 June 2018

List of works by Sander Pajusalu