Publications by authors named "Sander Pajusalu"

33Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

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

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

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

Eur J Hum Genet 2020 06 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

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

Mol Genet Genomic Med 2019 09 8;7(9):e915. Epub 2019 Aug 8.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.915
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http://dx.doi.org/10.1002/mgg3.915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309PMC
September 2019

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Eur J Med Genet 2020 Feb 29;63(2):103660. Epub 2019 Apr 29.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2019.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819237PMC
February 2020

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

Ann Neurol 2019 07 17;86(1):129-142. Epub 2019 May 17.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25494
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http://dx.doi.org/10.1002/ana.25494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685440PMC
July 2019

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

Mol Genet Genomic Med 2019 05 9;7(5):e614. Epub 2019 Mar 9.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1002/mgg3.614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503012PMC
May 2019

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

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

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

Mol Syndromol 2018 Jul 18;9(4):182-189. Epub 2018 May 18.

Department of Clinical Genetics, United Laboratories, University of Tartu, Tartu, Estonia.

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https://www.karger.com/Article/FullText/489446
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http://dx.doi.org/10.1159/000489446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117659PMC
July 2018

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

Mol Genet Metab Rep 2018 Jun 15;15:80-89. Epub 2018 Mar 15.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043467PMC
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

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

Neuroscience 2018 03 3;374:91-103. Epub 2018 Feb 3.

Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.neuroscience.2018.01.039DOI Listing
March 2018

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

JIMD Rep 2018 7;39:13-17. Epub 2017 Jul 7.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://link.springer.com/10.1007/8904_2017_41
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http://dx.doi.org/10.1007/8904_2017_41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953896PMC
July 2017

Three families with mild PMM2-CDG and normal cognitive development.

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.38235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444958PMC
June 2017

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Clin Case Rep 2016 08 22;4(8):824-30. Epub 2016 Jul 22.

Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.

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http://dx.doi.org/10.1002/ccr3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974439PMC
August 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

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

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.nmd.2015.11.011DOI Listing
March 2016

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Mol Syndromol 2015 Sep 15;6(3):135-40. Epub 2015 Aug 15.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1159/000438776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698626PMC
September 2015

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Eur J Med Genet 2015 Jun-Jul;58(6-7):336-40. Epub 2015 Apr 20.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.002DOI Listing
March 2016

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

Am J Med Genet A 2015 Aug 5;167A(8):1913-5. Epub 2015 Apr 5.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.37105DOI Listing
August 2015