Publications by authors named "Miriam Schmidts"

Hum Mutat 2020 Dec 1;41(12):2179-2194. Epub 2020 Nov 1.

Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.

Brain 2020 05;143(5):1447-1461

School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden.

Orphanet J Rare Dis 2020 02 1;15(1):36. Epub 2020 Feb 1.

Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok, Poland.

Cell Signal 2020 05 24;69:109519. Epub 2019 Dec 24.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

Biochim Biophys Acta Gen Subj 2020 01 11;1864(1):129433. Epub 2019 Sep 11.

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Brain 2019 10;142(10):2948-2964

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.

PLoS One 2019 16;14(5):e0216705. Epub 2019 May 16.

Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

JCI Insight 2019 Feb 7;4(3). Epub 2019 Feb 7.

Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Front Pediatr 2018 19;6:409. Epub 2018 Dec 19.

Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.

Hum Mutat 2019 03 25;40(3):267-280. Epub 2018 Dec 25.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

J Med Genet 2019 05 28;56(5):332-339. Epub 2018 Nov 28.

Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.

Cilia 2018 23;7. Epub 2018 Feb 23.

1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

Kidney Int Rep 2018 Nov 29;3(6):1454-1463. Epub 2018 Jul 29.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.

BMC Med Genet 2018 11 12;19(1):196. Epub 2018 Nov 12.

Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.

PLoS Genet 2018 08 27;14(8):e1007602. Epub 2018 Aug 27.

Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.

Am J Hum Genet 2018 05;102(5):973-984

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address:

FASEB J 2018 07 8;32(7):3653-3668. Epub 2018 Feb 8.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.

Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:

Thorax 2018 02 8;73(2):157-166. Epub 2017 Aug 8.

Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.

Am J Hum Genet 2017 Jan 29;100(1):160-168. Epub 2016 Dec 29.

Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherlands. Electronic address:

Sci Rep 2016 10 6;6:34764. Epub 2016 Oct 6.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

Nat Commun 2016 Mar 29;7:11270. Epub 2016 Mar 29.

Eur Respir J 2016 Mar;47(3):699-701

Human Genetics Dept, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

Nat Commun 2015 Jun 5;6:7074. Epub 2015 Jun 5.

Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.

BMC Res Notes 2015 Mar 8;8:71. Epub 2015 Mar 8.

J Pediatr Genet 2014 Nov;3(2):46-94

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany ; Genetics and Genomics Medicine, Institute of Child Health, University College London, London, UK.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

PLoS Genet 2014 Sep 18;10(9):e1004577. Epub 2014 Sep 18.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

Hum Mol Genet 2014 Jul 11;23(13):3362-74. Epub 2014 Feb 11.

Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK

PLoS One 2013 4;8(12):e82137. Epub 2013 Dec 4.

Department of Pediatrics I, University Children's Hospital, University of Heidelberg, Heidelberg, Germany ;

J Med Genet 2014 Jan 7;51(1):61-7. Epub 2013 Nov 7.

Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK.

Am J Hum Genet 2013 Nov 31;93(5):932-44. Epub 2013 Oct 31.

Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK. Electronic address:

Am J Hum Genet 2013 Nov 17;93(5):915-25. Epub 2013 Oct 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

Am J Hum Genet 2013 Sep 1;93(3):515-23. Epub 2013 Aug 1.

The University of Queensland Diamantina Institute, Translational Research Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia.

Am J Hum Genet 2013 Aug 25;93(2):346-56. Epub 2013 Jul 25.

Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, George Square, Edinburgh EH8 9XD, UK.

Nat Genet 2013 Sep 21;45(9):995-1003. Epub 2013 Jul 21.

Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut, USA.

J Med Genet 2013 May 1;50(5):309-23. Epub 2013 Mar 1.

Molecular Medicine Unit, Birth Defects Research Centre, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Hum Mutat 2013 May;34(5):714-24

Molecular Medicine Unit, University College London Institute of Child Health, London, UK.

Am J Hum Genet 2013 Jan 20;92(1):88-98. Epub 2012 Dec 20.

Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.

Hum Mutat 2013 Mar 11;34(3):462-72. Epub 2013 Feb 11.

Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK.

Am J Hum Genet 2012 Oct 27;91(4):672-84. Epub 2012 Sep 27.

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.

PLoS One 2012 7;7(5):e36705. Epub 2012 May 7.

Renal Division, University Hospital Freiburg, Freiburg, Germany.

Nat Genet 2012 May 13;44(6):714-9. Epub 2012 May 13.

Nephrology Division, Massachusetts General Hospital, Charlestown, Massachusetts, USA.

Nat Genet 2012 Mar 4;44(4):381-9, S1-2. Epub 2012 Mar 4.

Molecular Medicine Unit, University College London Institute of Child Health, London, UK.

Thorax 2012 May 18;67(5):433-41. Epub 2011 Dec 18.

University of North Carolina, Cystic Fibrosis/Pulmonary Research and Treatment Center, School of Medicine, CB# 7248, 7123 Thurston-Bowles Bldg, Chapel Hill, NC 27599-7248, USA.

Case Rep Pediatr 2011 21;2011:369871. Epub 2011 Dec 21.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.

Nat Genet 2011 Jan 5;43(1):72-8. Epub 2010 Dec 5.

Unit of Animal Genomics, Groupe Interdisciplinaire de Genomique Appliquee-Recherche (GIGA-R) and Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.

J Pediatr Gastroenterol Nutr 2010 Jan;50(1):106-7

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.

Am J Hum Genet 2009 Dec;85(6):883-9

Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany.

Hum Mol Genet 2003 Dec 21;12(24):3397-405. Epub 2003 Oct 21.

Renal Division, University Hospital Freiburg, Germany.

Mol Cell Biol 2003 Jul;23(14):4917-28

Renal Division. Molecular Medicine, University Hospital Freiburg, D-79106 Freiburg, Germany.

J Biol Chem 2003 Apr 10;278(15):13417-21. Epub 2003 Feb 10.

Renal Division, University Hospital Freiburg, Hugstetter Str. 55, 79106 Freiburg, Germany.