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  1. Loges, Niki Tomas [Author]; Antony, Dinu [Author]; Bakey, Zeineb [Author]; Schmidts, Miriam [Author]

    Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

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    2018

  2. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Azarfar, Anoush [Author]; Bakey, Zeineb [Author]; Behjati, Farkhondeh [Author]; Antony, Dinu [Author]; Schüle, Isabel [Author]; Sadeghi-Bojd, Simin [Author]; Karimiani, Ehsan Ghayoor [Author]; Schmidts, Miriam [Author]

    A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

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    Lausanne: Frontiers Media, 2019

    Published in: Frontiers in pediatrics ; 7 (2019), 89

  3. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Behjati, Farkhondeh [Author]; Sadeghi-Bojd, Simin [Author]; Bakey, Zeineb [Author]; Karimiani, Ehsan Ghayoor [Author]; Schüle, Isabel [Author]; Azarfar, Anoush [Author]; Schmidts, Miriam [Author]

    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

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare dise ; 14, 1 (2019), 41$z1750-1172

  4. Rad, Abolfazl [Author]; Altunoglu, Umut [Author]; Miller, Rebecca [Author]; Maroofian, Reza [Author]; James, Kiely N. [Author]; Çağlayan, Ahmet Okay [Author]; Najafi, Maryam [Author]; Stanley, Valentina [Author]; Boustany, Rose-Mary [Author]; Yeşil, Gözde [Author]; Sahebzamani, Afsaneh [Author]; Ercan-Sencicek, Gülhan [Author]; Saeidi, Kolsoum [Author]; Wu, Kaman [Author]; Bauer, Peter [Author]; Bakey, Zeineb [Author]; Gleeson, Joseph G. [Author]; Hauser, Natalie [Author]; Gunel, Murat [Author]; Kayserili, Hulya [Author]; Schmidts, Miriam [Author]

    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

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    London: BMJ, 2019

    Published in: Journal of medical genetics ; 56, 5 (2019), 332-39

  5. Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

    Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

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    New York, NY [u.a.]: Wiley, 2019

    Published in: Human mutation ; 40, 3 (2019), 267-280

  8. Maroofian, Reza; Schuele, Isabel; Najafi, Maryam; Bakey, Zeineb; Rad, Abolfazl; Antony, Dinu; Habibi, Haleh; Schmidts, Miriam

    Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

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    Elsevier BV, 2018

    Published in: Kidney International Reports, 3 (2018) 6, Seite 1454-1463

  10. Najafi, Maryam; Tamandani, Dor Mohammad Kordi; Azarfar, Anoush; Bakey, Zeineb; Behjati, Farkhondeh; Antony, Dinu; Schüle, Isabel; Sadeghi-Bojd, Simin; Karimiani, Ehsan Ghayoor; Schmidts, Miriam

    A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

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    Frontiers Media SA, 2019

    Published in: Frontiers in Pediatrics, 7 (2019)

  11. Najafi, Maryam; Kordi-Tamandani, Dor Mohammad; Behjati, Farkhondeh; Sadeghi-Bojd, Simin; Bakey, Zeineb; Karimiani, Ehsan Ghayoor; Schüle, Isabel; Azarfar, Anoush; Schmidts, Miriam

    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

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    Springer Science and Business Media LLC, 2019

    Published in: Orphanet Journal of Rare Diseases, 14 (2019) 1

  13. Bakey, Zeineb; Bihoreau, Marie-Thérèse; Piedagnel, Rémi; Delestré, Laure; Arnould, Catherine; de Villiers, Alexandre d'Hotman; Devuyst, Olivier; Hoffmann, Sigrid; Ronco, Pierre; Gauguier, Dominique; Lelongt, Brigitte

    The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes

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    Elsevier BV, 2015

    Published in: Kidney International, 88 (2015) 2, Seite 299-310

  14. Antony, Dinu; Gulec Yilmaz, Elif; Gezdirici, Alper; Slagter, Lennart; Bakey, Zeineb; Bornaun, Helen; Tanidir, Ibrahim Cansaran; Van Dinh, Tran; Brunner, Han G.; Walentek, Peter; Arnold, Sebastian J.; Backofen, Rolf; Schmidts, Miriam

    Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

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    Frontiers Media SA, 2022

    Published in: Frontiers in Genetics, 13 (2022)

  15. Oud, Machteld M.; Latour, Brooke L.; Bakey, Zeineb; Letteboer, Stef J.; Lugtenberg, Dorien; Wu, Ka Man; Cornelissen, Elisabeth A. M.; Yntema, Helger G.; Schmidts, Miriam; Roepman, Ronald; Bongers, Ernie M. H. F.

    Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

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    Springer Science and Business Media LLC, 2018

    Published in: Cilia, 7 (2018) 1

  16. Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N; Çağlayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yeşil, Gözde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam

    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctivecerebellar,ocular, craniofacial andgenital features (COFG syndrome)

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    BMJ, 2019

    Published in: Journal of Medical Genetics, 56 (2019) 5, Seite 332-339

  17. Höben, Inga M.; Hjeij, Rim; Olbrich, Heike; Dougherty, Gerard W.; Nöthe-Menchen, Tabea; Aprea, Isabella; Frank, Diana; Pennekamp, Petra; Dworniczak, Bernd; Wallmeier, Julia; Raidt, Johanna; Nielsen, Kim G.; Philipsen, Maria C.; Santamaria, Francesca; Venditto, Laura; Amirav, Israel; Mussaffi, Huda; Prenzel, Freerk; Wu, Kaman; Bakey, Zeineb; Schmidts, Miriam; Loges, Niki T.; Omran, Heymut

    Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

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    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics, 102 (2018) 5, Seite 973-984

  18. 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; [...]

    Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

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    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics, 103 (2018) 6, Seite 995-1008

  19. Paff, Tamara; Loges, Niki T.; Aprea, Isabella; Wu, Kaman; Bakey, Zeineb; Haarman, Eric G.; Daniels, Johannes M.A.; Sistermans, Erik A.; Bogunovic, Natalija; Dougherty, Gerard W.; Höben, Inga M.; Große-Onnebrink, Jörg; Matter, Anja; Olbrich, Heike; Werner, Claudius; Pals, Gerard; Schmidts, Miriam; Omran, Heymut; Micha, Dimitra

    Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

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    Elsevier BV, 2017

    Published in: The American Journal of Human Genetics, 100 (2017) 1, Seite 160-168

  20. 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.; [...]

    IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

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    Public Library of Science (PLoS), 2023

    Published in: PLOS Genetics, 19 (2023) 6, Seite e1010796