Miriam Schmidts

ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 14

Top Venues

Nature communications

Human mutation

Orphanet journal of rare diseases

Genes

University Hospital Freiburg

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

Affiliation History

University Hospital Freiburg Jan 01 2015

Germany

Principal Investigator :: Pediatric Genetics section, Center for Pediatrics and Adolescent Medicine

Radboud university medical center Jan 01 2015

Netherlands

Assistant Professor :: Human Genetics

Institute of Child Health, UCL Jun 01 2009

United Kingdom

Clinical research Fellow :: Molecular Medicine Unit

University Hospital Freiburg Aug 01 2005 - Dec 31 2008

Germany

Clinical Speciality Training :: Pediatrics and Adolescent Medicine

Publications

Sarah Catharina Grünert, Athanasia Ziagaki, André Heinen, Anke Schumann, Sara Tucci, Ute Spiekerkoetter, Miriam Schmidts
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum. Genes 14 (7) (2023)
Jay Gopalakrishnan, Kerstin Feistel, Benjamin M Friedrich, Anne Grapin-Botton, Nathalie Jurisch-Yaksi, Elvira Mass, David U Mick, Roman-Ulrich Müller, Helen May-Simera, Bernhard Schermer, Miriam Schmidts, Peter Walentek, Dagmar Wachten
Emerging principles of primary cilia dynamics in controlling tissue organization and function. The EMBO journal (2023)
Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Shariff, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecelia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. medRxiv : the preprint server for health sciences (2023)
Pascal Schlosser, Nora Scherer, Franziska Grundner-Culemann, Sara Monteiro-Martins, Stefan Haug, Inga Steinbrenner, Burulça Uluvar, Matthias Wuttke, Yurong Cheng, Arif Bülent Ekici, Gergely Gyimesi, Edward D Karoly, Fruzsina Kotsis, Johanna Mielke, Maria F Gomez, Bing Yu, Morgan E Grams, Josef Coresh, Eric Boerwinkle, Michael Köttgen, Florian Kronenberg, Heike Meiselbach, Robert P Mohney, Shreeram Akilesh, null null, Miriam Schmidts, Matthias A Hediger, Ulla T Schultheiss, Kai Uwe Eckardt, Peter J Oefner, Peggy Sekula, Yong Li, Anna Kottgen
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. Nature genetics (2023)
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, Marja W Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S Lipska-Ziętkiewicz, Jasper J Saris, Nicolas Charlet-Berguerand, Federico Zara, Pasquale Striano, Amelie Piton
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Human mutation 43 (9) (2022)
Tayebeh Baranzehi, Dor Mohammad Kordi-Tamandani, Maryam Najafi, Ali Khajeh, Miriam Schmidts
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update. Journal of clinical medicine 11 (21) (2022)
Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. Orphanet journal of rare diseases 17 (1) (2022)
Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F Freitag, Miriam Schmidts, null null, Florian Kronenberg, Kai Uwe Eckardt, Ines Thiele, Yong Li, Anna Kottgen
Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nature communications 12 (1) (2021)
Dinu Antony, Han G Brunner, Miriam Schmidts
Ciliary Dyneins and Dynein Related Ciliopathies. Cells 10 (8) (2021)
Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F Freitag, Miriam Schmidts, null null, Florian Kronenberg, Kai Uwe Eckardt, Ines Thiele, Yong Li, Anna Kottgen
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nature communications 12 (1) (2021)
Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah Catharina Grünert, Miriam Schmidts
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome. Genes 12 (6) (2021)
Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. Orphanet journal of rare diseases 14 (1) (2019)
Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). Journal of medical genetics 56 (5) (2018)
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V Hunter, Zeineb Bakey, Mari J Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstädter, Sebastian J Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Ghayoor Karimiani, GholamReza Karami Madani, Sebastian Lunke, Hatem El-Shanti, Christine M Eng, Stylianos E Antonarakis, Jozef Hertecant, Magdalena Walkiewicz, Yaping Yang, Miriam Schmidts
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Human mutation 40 (3) (2018)
Miriam Schmidts, Yuqing Hou, Claudio R Cortés, Dorus A Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E C van Beersum, Zhi Min Yap, Stef J F Letteboer, S Paige Taylor, Warren Herridge, Colin A Johnson, Peter J Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M King, null null, Philip L Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M Mitchison, George B Witman
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature communications 6 (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Miriam Schmidts