Miriam Schmidts

Current Position

Clinical Fellow, ERC starting grant holder

Academic Education

2005	Final German Medical Exam „Ärztliche Prüfung“
2003 - 2005	Medical doctoral thesis on Hereditary Nephrotic Syndromes, Nephrology Division, Medical Center - University of Freiburg (magna cum laude)
1998 - 2005	Medical studies at the University of Freiburg

Advanced Qualifications

2010	MRCP (UK) equivalence
2005	Dr. med. (Germany, postgraduate degree)

Postgraduate Positions

2018 - present	Clinical Fellow, Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg
2015 - present	Assistant Professor Genome Research Division, Human Genetics department, Radboud University Hospital Nijmegen, NL
2011 - 2014	Clinical Research Fellow, Fellowship Action Medical Research (AMR), ICH (UCL), London, UK, Molecular Medicine Unit
2009 - 2011	Academic Research Fellow (DFG (German Research Foundation) Research Fellowship) ICH (UCL), Molecular Medicine Unit
2009	Academic Research Fellow in Internal Medicine, Nephrology, Medical Center - University of Freiburg
2005 - 2008	Clinical Fellow, Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg

Link to all publications of Miriam Schmidts: PubMed

Publications on CRC 1453 funding

Riedhammer KM, Nguyen TMT, Kosukcu C, Calzada-Wack J, Li Y, …, Schlosser P, …, Wuttke M, …, Bergmann C, …, Antony D, …, Schell C, …, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). Kidney Int (2023). Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, …, Schmidts M, …, Severino M, Houlden H, Hübner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med (2023). Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, …, Schmidts M, …, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain (2023). Gopalakrishnan J, Feistel K, Friedrich BM, Grapin-Botton A, Jurisch-Yaksi N, …, Schmidts M, Walentek P, Wachten D. Emerging principles of primary cilia dynamics in controlling tissue organization and function. EMBO J (2023). Grünert SC, Ziagaki A, Heinen A, Schumann A, Tucci S, Spiekerkoetter U, Schmidts M. Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum. Genes (2023). Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, …, Mitchison HM, Schmidts M, Pazour GJ. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genet (2023). Schlosser P, Scherer N, Grundner-Culemann F, Monteiro-Martins S, Haug S, …, Wuttke M, …, Köttgen M, …, Schmidts M, …, Schultheiss UT, …, Sekula P, Li Y, Köttgen A. Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. Nat Genet (2023). Baranzehi T, Kordi-Tamandani DM, Najafi M, Khajeh A, Schmidts M. Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update. J Clin Med (2022). Najafi M, Riedhammer KM, Rad A, Torbati PN, Berutti R, …, Köttgen A, Backofen R, Karimiani EG, Hoefele J, Schmidts M. High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases. Front Pediatr (2022). Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, …, Schmidts M, Houlden H, Moreno-De-Luca A, Maroofian R. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet (2022). Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, …, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis. Front Genet (2022). Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, …, Walentek P, Arnold SJ, Backofen R, Schmidts M. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Front Genet (2022). Rad A, Najafi M, Suri F, Abedini S, Loum S, …, Hashemi N, Vona B, Schmidts M. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. Orphanet J Rare Dis (2022). Antony D, Brunner HG, Schmidts M. Ciliary Dyneins and Dynein Related Ciliopathies. Cells (2021). Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, …, Lausch E, Grünert SC, Schmidts M. A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome. Genes (2021). Stippel M, Riedhammer KM, Lange-Sperandio B, Geßner M, Braunisch MC, …, Schmidts M; …, Renders L, Heemann U, Hoefele J. Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing. Front Genet (2021). Grünert SC, Matysiak U, Hodde F, Ruzaike G, Lausch E, Schumann A, van der Werf-Grohmann N, Spiekerkoetter U, Schmidts M. Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment. Diagnostics (Basel) (2021). Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, …, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain (2021). Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, …, Schmidts M; …, Thiele I, Li Y, Köttgen A. Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nat Commun (2021).