113 Publications
Nat Commun 2021 02 18;12(1):1135. Epub 2021 Feb 18.
Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
J Clin Invest 2021 Feb 4. Epub 2021 Feb 4.
Institute of Anatomy and Cell Biology, Heidelberg University, Heidelberg, Germany.
Sci Adv 2021 Jan 20;7(4). Epub 2021 Jan 20.
Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.
Mol Genet Metab Rep 2020 Dec 18;25:100677. Epub 2020 Nov 18.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Sci Adv 2020 Dec 2;6(49). Epub 2020 Dec 2.
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Genet Med 2020 Nov 5. Epub 2020 Nov 5.
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
EMBO Mol Med 2020 11 30;12(11):e13187. Epub 2020 Oct 30.
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
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:
Am J Med Genet A 2021 01 24;185(1):119-133. Epub 2020 Oct 24.
Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Am J Med Genet A 2021 01 7;185(1):15-25. Epub 2020 Oct 7.
Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Hum Mol Genet 2020 Jun;29(9):1426-1439
Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, 00290 Helsinki, Finland.
Genet Med 2020 Jun 27;22(6):1102-1107. Epub 2020 Feb 27.
Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
Eur J Hum Genet 2020 06 20;28(6):706-714. Epub 2020 Feb 20.
Division of Gene Regulation and Expression and School of Life Sciences, University of Dundee, Dundee, UK.
Mol Genet Genomic Med 2020 04 5;8(4):e1154. Epub 2020 Feb 5.
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.
Am J Hum Genet 2020 02 9;106(2):234-245. Epub 2020 Jan 9.
Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. Electronic address:
Clin Epigenetics 2020 01 7;12(1). Epub 2020 Jan 7.
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
FEBS Lett 2020 02 7;594(4):717-727. Epub 2019 Nov 7.
Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK.
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:
Mol Genet Genomic Med 2019 09 8;7(9):e915. Epub 2019 Aug 8.
Am J Hum Genet 2019 08 11;105(2):403-412. Epub 2019 Jul 11.
Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address:
Genet Med 2019 12 26;21(12):2723-2733. Epub 2019 Jun 26.
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Eur J Hum Genet 2019 11 11;27(11):1649-1658. Epub 2019 Jun 11.
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.
Am J Hum Genet 2019 05 18;104(5):957-967. Epub 2019 Apr 18.
Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK. Electronic address:
Mol Genet Metab Rep 2019 Jun 23;19:100467. Epub 2019 Mar 23.
Mol Genet Genomic Med 2019 05 9;7(5):e614. Epub 2019 Mar 9.
J Inherit Metab Dis 2019 05 11;42(3):553-564. Epub 2019 Feb 11.
J Inherit Metab Dis 2019 01;42(1):5-28
Department of Clinical Genomics, Mayo Clinic, Rochester, New York.
Eur J Hum Genet 2019 05 21;27(5):747-759. Epub 2019 Jan 21.