Sander Pajusalu

2.8k citations

37 papers · 555 indexed · h-index 14

Clinical Biochemistry top 10%
- Metabolism and Genetic Disorders 7
Genetics top 10%
- Genomics and Rare Diseases 10
- Genomic variations and chromosomal abnormalities 7
- Genetic Syndromes and Imprinting 4
Molecular Biology
- Biochemical and Molecular Research 5
- RNA modifications and cancer 5
- Glycosylation and Glycoproteins Research 4
- Muscle Physiology and Disorders 4
Genetics
- Genomics and Rare Diseases 10
- Genomic variations and chromosomal abnormalities 7
- Genetic Syndromes and Imprinting 4
Cellular and Molecular Neuroscience

Co-authors: Katrin Õunap Tiia Reimand Karit Reinson Eve Õiglane‐Shlik Mari‐Anne Vals Sanna Puusepp Tiina Kahre Inga Talvik
Cited by: Clinical Biochemistry Genetics Molecular Biology
Journals: Nature Communications (1 paper)Annals of Neurology (1 paper)FEBS Letters (1 paper)
Partner nations: Estonia United States Netherlands

In The Last Decade

Sander Pajusalu

35 papers receiving 547 citations

Peers

Countries citing papers authored by Sander Pajusalu

Since Specialization

Citations

This map shows the geographic impact of Sander Pajusalu's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Sander Pajusalu with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Sander Pajusalu more than expected).

Fields of papers citing papers by Sander Pajusalu

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Sander Pajusalu. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Sander Pajusalu. The network helps show where Sander Pajusalu may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Sander Pajusalu, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Sander Pajusalu Line = papers co-authored together Sander Pajusalu links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts Frontiers in Neurology ·Kaisa Teele Oja,Mihkel Ilisson,Karit Reinson,Kai Muru,Tiia Reimand,Hedi Peterson,Dmytro Fishman,Toomas Haller,Jaanika Kronberg,Monica H. Wojcik,Adam D. Kennedy,Laura Sommerville,Gregory A. Michelotti,Anne O’Donnell‐Luria,Eve Õiglane‐Shlik,Sander Pajusalu,Katrin Õunap	2025	0
2	TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant Neurology Genetics ·Katrin Õunap,Tiia Reimand,Eve Õiglane‐Shlik,Sanna Puusepp,Laura Mihkla,Sander Pajusalu,Marco Savarese,Bjarne Udd	2024	0
3	The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population Cancers ·Laura Roht,Piret Laidre,Mikk Tooming,Neeme Tõnisson,Margit Nõukas,Miriam Nurm,Hanno Roomere,Kadri Rekker,Kadri Toome,Olga Fjodorova,Ülle Murumets,Ustina Šamarina,Sander Pajusalu,Anu Aaspõllu,Liis Salumäe,Kristina Muhu,Jaan Soplepmann,Katrin Õunap,Tiina Kahre	2023	3
4	High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction Journal of Child Neurology ·Norman Ilves,Sander Pajusalu,Tiina Kahre,Rael Laugesaar,Ustina Šamarina,Dagmar Loorits,Pille Kool,Pilvi Ilves	2023	3
5	Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene European Journal of Medical Genetics ·L. Mauring,Sanna Puusepp,M. Parik,Eva Roomets,Rita Teek,Tiia Reimand,Sander Pajusalu,Kuldar Kaljurand,Katrin Õunap	2023	1
6	The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia Frontiers in Genetics ·Siiri Sarv,Tiina Kahre,Eve Vaidla,Sander Pajusalu,Kai Muru,Haide Põder,Katrin Gross‐Paju,Sandra Ütt,Riina Žordania,Inga Talvik,Eve Õiglane‐Shlik,Kristina Muhu,Katrin Õunap	2021	6
7	Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5 Nature Communications ·Peter Linders,Eveline C. F. Gerretsen,Angel Ashikov,Mari‐Anne Vals,Rinse de Boer,Natalia H. Revelo,Richard Arts,Melissa Baerenfaenger,Fokje Zijlstra,Karin Huijben,Kimiyo Raymond,Kai Muru,Olga Fjodorova,Sander Pajusalu,Katrin Õunap,Martin ter Beest,Dirk J. Lefeber,Geert van den Bogaart	2021	16
8	The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases Frontiers in Genetics ·Sander Pajusalu,Mari‐Anne Vals,Laura Mihkla,Ustina Šamarina,Tiina Kahre,Katrin Õunap	2021	13
9	Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency Molecular Genetics & Genomic Medicine ·Hardo Lilleväli,Sander Pajusalu,Monica H. Wojcik,Julia K. Goodrich,Ryan L. Collins,Ülle Murumets,Pille Tammur,Nenad Blau,Kersti Lilleväli,Katrin Õunap	2020	5
10	Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases Genetics in Medicine ·Wei Liu,Sander Pajusalu,Nicole J. Lake,Geyu Zhou,Nilah M. Ioannidis,Plavi Mittal,Nicholas E. Johnson,Conrad C. Weihl,Bradley A. Williams,Douglas E. Albrecht,Laura Rufibach,Monkol Lek	2019	57
11	A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016 European Journal of Human Genetics ·Maria Yakoreva,Tiina Kahre,Riina Žordania,Karit Reinson,Rita Teek,Vallo Tillmann,Aleksandr Peet,Eve Õiglane‐Shlik,Sander Pajusalu,Ülle Murumets,Mari‐Anne Vals,Pille Mee,Monica H. Wojcik,Katrin Õunap	2019	17
12	A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability FEBS Letters ·Veronica M. Pravatà,Mehmet Gundogdu,Sergio G. Bartual,Andrew T. Ferenbach,Marios P. Stavridis,Katrin Õunap,Sander Pajusalu,Riina Žordania,Monica H. Wojcik,Daan M. F. van Aalten	2019	32
13	A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review Molecular Syndromology ·Maria Yakoreva,Tiina Kahre,Sander Pajusalu,Piret Ilisson,Olga Žilina,Vallo Tillmann,Tiia Reimand,Katrin Õunap	2018	12
14	Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice Neuroscience ·Marilin Ivask,Sander Pajusalu,Ene Reimann,Sulev Kõks	2018	9
15	Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia Molecular Genetics and Metabolism Reports ·Sanna Puusepp,Karit Reinson,Sander Pajusalu,Ülle Murumets,Eve Õiglane‐Shlik,Reet Rein,Inga Talvik,Richard J. Rodenburg,Katrin Õunap	2018	30
16	Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases Molecular Syndromology ·Konstantin Ridnõi,Elvira Kurvinen,Sander Pajusalu,Tiia Reimand,Katrin Õunap	2018	8
17	The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients JIMD Reports ·Mari‐Anne Vals,Sander Pajusalu,Mart Kals,Reedik Mägi,Katrin Õunap	2017	26
18	Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy American Journal of Medical Genetics Part A ·Karit Reinson,Eve Õiglane‐Shlik,Inga Talvik,Ulvi Vaher,Anne Õunapuu,Margus Ennok,Rita Teek,Sander Pajusalu,Ülle Murumets,Tiiu Tomberg,Sanna Puusepp,Andres Piirsoo,Tiia Reimand,Katrin Õunap	2016	62
19	Novel homozygous mutation in KPTN gene causing a familial intellectual disability‐macrocephaly syndrome American Journal of Medical Genetics Part A ·Sander Pajusalu,Tiia Reimand,Katrin Õunap	2015	23
20	De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion Neuromuscular Disorders ·Sander Pajusalu,Inga Talvik,Klari Noormets,Tiina Talvik,Haide Põder,Kairit Joost,Sanna Puusepp,Andres Piirsoo,Werner Stenzel,Hans H. Goebel,Tiit Nikopensius,Tarmo Annilo,Margit Nõukas,Andres Metspalu,Katrin Õunap,Tiia Reimand	2015	8

About Sander Pajusalu

Sander Pajusalu is a scholar working on Clinical Biochemistry, Genetics and Molecular Biology, having authored 37 papers that have together received 555 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (10 papers), Metabolism and Genetic Disorders (7 papers), Genomic variations and chromosomal abnormalities (7 papers), Biochemical and Molecular Research (5 papers), RNA modifications and cancer (5 papers), Glycosylation and Glycoproteins Research (4 papers), Genetic Syndromes and Imprinting (4 papers) and Muscle Physiology and Disorders (4 papers). The work is most often cited by research in Clinical Biochemistry (68 citations), Genetics (211 citations) and Molecular Biology (349 citations). Sander Pajusalu has collaborated with scholars based in Estonia, United States and Netherlands. Frequent co-authors include Katrin Õunap, Tiia Reimand, Karit Reinson, Eve Õiglane‐Shlik, Mari‐Anne Vals, Sanna Puusepp, Tiina Kahre, Inga Talvik, Monkol Lek and Riina Žordania. Their work appears in journals such as Nature Communications, Annals of Neurology and FEBS Letters.

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