Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
Cheng, Yurong, Schlosser, Pascal, Hertel, Johannes, Sekula, Peggy, Oefner, Peter J., Spiekerkoetter, Ute, Mielke, Johanna, Freitag, Daniel F., Schmidts, Miriam, Kronenberg, Florian, Eckardt, Kai-Uwe, Thiele, Ines, Li, Yong, Köttgen, Anna
Published in Nature communications (11.02.2021)
Published in Nature communications (11.02.2021)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
Cheng, Yurong, Schlosser, Pascal, Hertel, Johannes, Sekula, Peggy, Oefner, Peter J., Spiekerkoetter, Ute, Mielke, Johanna, Freitag, Daniel F., Schmidts, Miriam, Kronenberg, Florian, Eckardt, Kai-Uwe, Thiele, Ines, Li, Yong, Köttgen, Anna
Published in Nature communications (06.10.2021)
Published in Nature communications (06.10.2021)
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Journal Article
Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia
Vriend, Jelle, Peters, Janny G.P., Nieskens, Tom T.G., Škovroňová, Renata, Blaimschein, Nina, Schmidts, Miriam, Roepman, Ronald, Schirris, Tom J.J., Russel, Frans G.M., Masereeuw, Rosalinde, Wilmer, Martijn J.
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
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Journal Article
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Ciliary Dyneins and Dynein Related Ciliopathies
Antony, Dinu, Brunner, Han G., Schmidts, Miriam
Published in Cells (Basel, Switzerland) (25.07.2021)
Published in Cells (Basel, Switzerland) (25.07.2021)
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Journal Article
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D, Schier, Alexander F, O'Callaghan, Christopher, Chung, Eddie M K, Reinhardt, Richard, Mitchison, Hannah M, King, Stephen M, Omran, Heymut, Drummond, Iain A
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Journal Article
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Journal Article
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W, Abu Zahira, Ibrahim, Letteboer, Stef J F, Antony, Dinu, Darwish, Alaa, Mans, Dorus A, Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T, Breuer, Oded, Shaag, Avraham, Rein, Azaria J J T, Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Published in PLoS genetics (27.08.2018)
Published in PLoS genetics (27.08.2018)
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Journal Article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M, Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L, Alkuraya, Fowzan S
Published in Human molecular genetics (01.03.2015)
Published in Human molecular genetics (01.03.2015)
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Journal Article
Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
Loges, Niki Tomas, Olbrich, Heike, Becker-Heck, Anita, Häffner, Karsten, Heer, Angelina, Reinhard, Christina, Schmidts, Miriam, Kispert, Andreas, Zariwala, Maimoona A., Leigh, Margaret W., Knowles, Michael R., Zentgraf, Hanswalter, Seithe, Horst, Nürnberg, Gudrun, Nürnberg, Peter, Reinhardt, Richard, Omran, Heymut
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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Journal Article
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J
Published in PLoS genetics (14.06.2023)
Published in PLoS genetics (14.06.2023)
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Journal Article
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Rad, Aboulfazl, Najafi, Maryam, Suri, Fatemeh, Abedini, Soheila, Loum, Stephen, Karimiani, Ehsan Ghayoor, Daftarian, Narsis, Murphy, David, Doosti, Mohammad, Moghaddasi, Afrooz, Ahmadieh, Hamid, Sabbaghi, Hamideh, Rajati, Mohsen, Hashemi, Narges, Vona, Barbara, Schmidts, Miriam
Published in Orphanet journal of rare diseases (03.03.2022)
Published in Orphanet journal of rare diseases (03.03.2022)
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Journal Article
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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Journal Article
Primary cilia-regulated transcriptome in the renal collecting duct
Mohammed, Sami G, Arjona, Francisco J, Verschuren, Eric H J, Bakey, Zeineb, Alkema, Wynand, van Hijum, Sacha, Schmidts, Miriam, Bindels, René J M, Hoenderop, Joost G J
Published in The FASEB journal (01.07.2018)
Published in The FASEB journal (01.07.2018)
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Journal Article
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
Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
Published in Orphanet journal of rare diseases (13.02.2019)
Published in Orphanet journal of rare diseases (13.02.2019)
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Journal Article
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M, Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M, Schmidts, Miriam, Arts, Heleen H, Latos-Bielenska, Anna, Wasilewska, Anna
Published in Orphanet journal of rare diseases (01.02.2020)
Published in Orphanet journal of rare diseases (01.02.2020)
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Journal Article
Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney
Westhoff, Jens H, Giselbrecht, Stefan, Schmidts, Miriam, Schindler, Sebastian, Beales, Philip L, Tönshoff, Burkhard, Liebel, Urban, Gehrig, Jochen
Published in PloS one (04.12.2013)
Published in PloS one (04.12.2013)
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Journal Article
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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