Sander Pajusalu (S Pajusalu)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 23

Top Venues

Molecular genetics & genomic medicine

Annals of clinical and translational neurology

European journal of human genetics : EJHG

Human mutation

University of Tartu

University of Tartu (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Tartu Feb 01 2019

Estonia

Senior Research Fellow :: Institute of Clinical Medicine

Yale University School of Medicine Aug 01 2018

United States

Postdoc :: Genetics

Tartu University Hospital Sep 01 2017

Estonia

Medical Geneticist :: Clinical Genetics

University of Tartu Jul 01 2017 - Jun 30 2018

Estonia

Junior Research Fellow :: Institute of Clinical Medicine

Tartu University Hospital Sep 01 2013 - Aug 31 2017

Estonia

Resident of medical genetics :: Department of Genetics

Education History

University of Tartu Sep 01 2014 - Dec 20 2017

Estonia

PHD :: Institute of Clinical Medicine

Publications

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica Hsiung Wojcik, Adam D Kennedy, Gregory Michelotti, Anne H O'Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences (2023)
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, Eleanor G Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J Holwerda, Koen van Gassen, Richard H van Jaarsveld
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder. Human mutation (2022)
Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey V Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zídková, Lenka Fajkusová, Svetlana A Limborska, Anneke J van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Õunap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. Human mutation 43 (10) (2022)
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies. Molecular genetics & genomic medicine 9 (10) (2021)
David B Beck, Mohammed A Basar, Anthony J Asmar, Joyce J Thompson, Hirotsugu Oda, Daniela T Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D'Souza, Joann Norma Bodurtha, Weiyi Mu, Kristin W Barañano, Noriko Miyake, Raymond Yu-Jeang Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F Macnamara, null null, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J Tifft, Ivona Aksentijevich, Daniel L Kastner, Pedro P Rocha, Achim Werner
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Science advances 7 (4) (2021)
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W Sommerville, Emma L Blakely, Jack J Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J Bleyer, Kim L McBride, Sasigarn A Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A Tarnopolsky, Lauren I Brady, K Nicole Weaver, Carlos E Prada, Katrin Õunap, Monica H Wojcik, Sander Pajusalu, Safoora B Syeda, Lynn Pais, Elicia A Estrella, Christine C Bruels, Louis M Kunkel, Peter B Kang, Penelope E Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S Gorman, Maria Falkenberg, Claes M Gustafsson, Robert W Taylor
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature communications 12 (1) (2021)
David A Dyment, Anne H O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E Chudley, Carol L Clericuzio, Gerald F Cox, Cynthia Curry, Elke de Boer, Bert B A de Vries, Kathryn Dunn, Cullen M Dutmer, Eleina M England, Jill A Fahrner, Bilgen Bilge Geckinli, Casie A Genetti, Alper Gezdirici, William T Gibson, Joseph G Gleeson, Cheryl R Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N Jhangiani, Ender Karaca, Kristin Kernohan, Julie L Lauzon, M E Suzanne Lewis, R Brian Lowry, Francesc López-Giráldez, Tara C Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J M Nowaczyk, Jennifer E Posey, Katrin Õunap, Davut Pehlivan, Sander Pajusalu, Lynette S Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P Dane Witmer, Isaac Wong, Jinchuan Xing, Maha Saad Zaki, Yeting Zhang, null null, null null, Kym M Boycott, Michael J Bamshad, Deborah A Nickerson, Elizabeth E Blue, A Micheil Innes
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American journal of medical genetics. Part A 185 (1) (2020)
Hardo Lilleväli, Sander Pajusalu, Monica H Wojcik, Julia Goodrich, Ryan L Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Molecular genetics & genomic medicine 8 (4) (2020)
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A Cousin, Teresa M Kruisselbrink, Brendan C Lanpher, Eric W Klee, Elise Fiala, Dorothy K Grange, Wendy S Meschino, Susan M Hiatt, Gregory M Cooper, Hilde Olivié, Wendy E Smith, Meghan Dumas, Anna Lehman, null null, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C Herkert, Sander Pajusalu, Katrin Õunap, James J Filiano, Thomas Smol, Amelie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B Dobyns, Robert F Hevner, Christel Thauvin-Robinet
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European journal of human genetics : EJHG 28 (6) (2020)
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
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. European journal of human genetics : EJHG 27 (11) (2019)
Wei Liu, Sander Pajusalu, Nicole J Lake, Geyu Zhou, Nilah Ioannidis, Plavi Mittal, Nicholas E Johnson, Conrad C Weihl, Bradley A Williams, Douglas E Albrecht, Laura E Rufibach, Monkol Lek
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K J Olsen, Katrin Õunap
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Molecular genetics & genomic medicine 7 (9) (2019)
Konstantin Ridnõi, Marek Šois, Eve Vaidla, Sander Pajusalu, Larissa Kelder, Tiia Reimand, Katrin Õunap
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Molecular genetics & genomic medicine 7 (5) (2019)
Janis Stavusis, Baiba Lace, Jochen Schäfer, Janelle Geist, Inna Inashkina, Dita Kidere, Sander Pajusalu, Nathan T Wright, Annika Saak, Manja Weinhold, Dietrich Haubenberger, Sandra Jackson, Aikaterini Kontrogianni-Konstantopoulos, Carsten G Bönnemann
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. Annals of neurology 86 (1) (2019)
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E Stuurman, Katrin Õunap, Sander Pajusalu, Monica Hsiung Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R Blackburn, Marissa S Ellingson, Matthew J Ferber, Radhika Dhamija, Eric W Klee, Meriel McEntagart, Klaske D Lichtenbelt, Amy Kenney, Samantha A Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J Hopkin, Richard J Martin, Marjolijn C J Jongmans, Vivian Y Chang, Julian A Martinez-Agosto, Outi Kuismin, Mitja I Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J Maarup, Diana S Johnson, Katja Venborg Pedersen, Lone W Laulund, Sally A Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H Brilstra, Marwan Shinawi, Emily Fassi, null null, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J T Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. European journal of human genetics : EJHG 26 (3) (2018)
Maria Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G Szymanski, Christian Gilissen, Olivier Vanakker, Katrin Õunap, Gerhard Mittler, Ineke van der Burgt, Salima El Chehadeh, Megan T Cho, Rolph Pfundt, Tiong Yang Tan, Maria Kirchhoff, Björn Menten, Sarah Vergult, Kristin Lindstrom, André Reis, Diana S Johnson, Alan Fryer, Victoria McKay, null null, Richard B Fisher, Christel Thauvin-Robinet, David Francis, Tony Roscioli, Sander Pajusalu, Kelly Radtke, Jaya Ganesh, Han G Brunner, Meredith Wilson, Laurence Faivre, Vera M Kalscheuer, Julien Thevenon, Asifa Akhtar
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature genetics 50 (10) (2018)
Sander Pajusalu, T Kahre, H Roomere, Ü Murumets, L Roht, K Simenson, T Reimand, K Õunap
Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases. Clinical genetics 93 (1) (2017)

Sander Pajusalu.css-eqlu8i{font-size:small;padding-left:4px;} (S Pajusalu)

Publication Activity (10 Years)

Top Topics

Top Venues

Sander Pajusalu (S Pajusalu)