Dimitra Micha

Research output

Research output per year 2005 2018 2019 2020 2021 2022 2023 2024

• 60 Article
• 11 Review article
• 1 Meeting Abstract

Research output per year

Research output per year

Search results

• 2024

  Elucidating the role of water in collagen self-assembly by isotopically modulating collagen hydration

  Giubertoni, G., Feng, L., Klein, K., Giannetti, G., Rutten, L., Choi, Y., van der Net, A., Castro-Linares, G., Caporaletti, F., Micha, D., Hunger, J., Deblais, A., Bonn, D., Sommerdijk, N., Šarić, A., Ilie, I. M., Koenderink, G. H. & Woutersen, S., 12 Mar 2024, In: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 121, 11, p. e2313162121

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells

  Claeys, L., Zhytnik, L., Ventura, L., Wisse, L. E., Eekhoff, E. M. W., Pals, G., Bravenboer, N., Heine, V. M. & Micha, D., 2 Mar 2024, In: International journal of molecular sciences. 25, 6, 3417.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2023

  Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

  Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W. & Bugiani, M., 1 Jul 2023, In: Physiological reports. 11, 13, p. e15737 e15737.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures

  Treurniet, S., Bevers, M. S. A. M., Wyers, C. E., Micha, D., Teunissen, B. P., Elting, M. W., van den Bergh, J. P. & Eekhoff, E. M. W., May 2023, In: Calcified tissue international. 112, 5, p. 621-627 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

  Storoni, S., Verdonk, S. J. E., Micha, D., Jak, P. M. C., Bugiani, M., Eekhoff, E. M. W. & van den Aardweg, J. G., 2023, In: Frontiers in Medicine. 10, 1301873.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1

  Claeys, L., Zhytnik, L., Wisse, L. E., van Essen, H. W., Eekhoff, E. M. W., Pals, G., Bravenboer, N. & Micha, D., 2023, In: Frontiers in Endocrinology. 14, 1145125.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

  Storoni, S., Verdonk, S. J. E., Zhytnik, L., Pals, G., Treurniet, S., Elting, M. W., Sakkers, R. J. B., van den Aardweg, J. G., Eekhoff, E. M. W. & Micha, D., 1 Feb 2023, In: BIOMOLECULES. 13, 2, 281.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)

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

  Bakey, Z., Cabrera, O., Hoefele, J., Antony, D., Wu, K., Stuck, M., Micha, D., Eguether, T., Smith, A., van der Wel, N. N., Wagner, M., Strittmatter, L., Beales, P., Jonassen, J., Thiffault, I., Cadieux-Dion, M., Boyes, L., Sharif, S., Tüysüz, B., Dunstheimer, D., & 6 othersNiessen, J. W. M., Devine, W., Lo, C., Mitchison, H., Schmidt, M. & Pazour, G., 2023, In: PLoS genetics.

  Research output: Contribution to journal › Article › Academic › peer-review

• Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure

  Chaney, H., Mekking, D., de Bakker, D., Beeri, E., Eekhoff, E. M. W., Franken, A., Kamp, O., Micha, D., Barreiros, C. U., Tomlow, B., van den Aardweg, J. G., LoMauro, A. & Folkestad, L., 1 May 2023, In: Chest. 163, 5, p. 1201-1213 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Mapping the Response of Human Osteocytes in Native Matrix to Mechanical Loading Using RNA Sequencing

  Zhang, C., van Essen, H. W., Sie, D., Micha, D., Pals, G., Klein-Nulend, J. & Bravenboer, N., Apr 2023, In: JBMR Plus. 7, 4, p. 1-16 16 p., e10721.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

  Verdonk, S. J. E., Storoni, S., Zhytnik, L., Zhong, W., Pals, G., van Royen, B. J., Elting, M. W., Maugeri, A., Eekhoff, E. M. W. & Micha, D., Aug 2023, In: Calcified tissue international. 113, 2, p. 186-194 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports

  Storoni, S., Celli, L., Zhytnik, L., Maasalu, K., Märtson, A., Kõks, S., Khmyzov, S., Pashenko, A., Maugeri, A., Zambrano, A., Celli, M., Eekhoff, E. M. W. & Micha, D., 1 Nov 2023, In: European journal of medical genetics. 66, 11, 104857.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva

  de Ruiter, R. D., Wisse, L. E., Schoenmaker, T., Yaqub, M., Sánchez-Duffhues, G., Eekhoff, E. M. W. & Micha, D., 1 Feb 2023, In: International journal of molecular sciences. 24, 3, p. 1-14 14 p., 2299.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)
• 2022

  Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

  Yuniati, R., Hellmi, R. Y., Dwijayanti, G. C., Astuti, M. D. K., Pals, G., Micha, D. & Faradz, S. M., 6 Oct 2022, In: Case Reports in Dermatology. 14, 3, p. 291-301 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate

  Cayami, F. K., Claeys, L., de Ruiter, R., Smilde, B. J., Wisse, L., Bogunovic, N., Riesebos, E., Eken, L., Kooi, I., Sistermans, E. A., Bravenboer, N., Pals, G., Faradz, S. M. H., Sie, D., Eekhoff, E. M. W. & Micha, D., 1 Dec 2022, In: Scientific reports. 12, 1, 14686.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant

  Zhytnik, L., Duy, B. H., Eekhoff, M., Wisse, L., Pals, G., Reimann, E., Kõks, S., Märtson, A., Maugeri, A., Maasalu, K. & Micha, D., 1 Mar 2022, In: Genes. 13, 3, 407.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

  Storoni, S., Treurniet, S., Maugeri, A., Pals, G., van den Aardweg, J. G., van der Pas, S. L., Elting, M. W., Kloen, P., Micha, D. & Eekhoff, E. M. W., 25 Apr 2022, In: Frontiers in Endocrinology. 13, 869604.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)

• Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

  Amsterdam Mucociliary Clearance Disease (AMCD) research group, 1 Mar 2022, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 190, 1, p. 89-101 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)
• 2021

  Activin-a induces early differential gene expression exclusively in periodontal ligament fibroblasts from fibrodysplasia ossificans progressiva patients

  Schoenmaker, T., Mokry, M., Micha, D., Netelenbos, C., Bravenboer, N., Gilijamse, M., Eekhoff, E. M. W. & De Vries, T. J., 1 Jun 2021, In: Biomedicines. 9, 6, p. 1-16 16 p., 629.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

  de Ruiter, R. D., Smilde, B. J., Pals, G., Bravenboer, N., Knaus, P., Schoenmaker, T., Botman, E., Sánchez-Duffhues, G., Pacifici, M., Pignolo, R. J., Shore, E. M., van Egmond, M., Van Oosterwyck, H., Kaplan, F. S., Hsiao, E. C., Yu, P. B., Bocciardi, R., De Cunto, C. L., Longo Ribeiro Delai, P., de Vries, T. J., & 15 othersHilderbrandt, S., Jaspers, R. T., Keen, R., Koolwijk, P., Morhart, R., Netelenbos, J. C., Rustemeyer, T., Scott, C., Stockklausner, C., ten Dijke, P., Triffit, J., Ventura, F., Ravazzolo, R., Micha, D. & Eekhoff, E. M. W., 10 Nov 2021, In: Frontiers in Endocrinology. 12, November, p. 1-8 8 p., 732728.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  14 Citations (Scopus)

• Inflammatory Gene Expression of Human Perivascular Adipose Tissue in Abdominal Aortic Aneurysms

  Meekel, J. P., Dias-Neto, M., Bogunovic, N., Conceição, G., Sousa-Mendes, C., Stoll, G. R., Leite-Moreira, A., Huynh, J., Micha, D., Eringa, E. C., Balm, R., Blankensteijn, J. D. & Yeung, K. K., Jun 2021, In: European Journal of Vascular and Endovascular Surgery. 61, 6, p. 1008-1016 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  14 Citations (Scopus)

• Mechanical Stress Regulates Bone Regulatory Gene Expression Independent of Estrogen and Vitamin D Deficiency in Rats

  Nepal, AK., van Essen, H. W., van der Veen, A. J., van Wieringen, WN., Stavenuiter, AWD., Cayami, FK., Pals, G., Micha, D., Vanderschueren, D., Lips, PTAM. & Bravenboer, N., 1 Jan 2021, In: Journal of orthopaedic research. 39, 1, p. 42-52 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1

  Burger, J., Bogunovic, N., de Wagenaar, N. P., Liu, H., van Vliet, N., IJpma, A., Maugeri, A., Micha, D., Verhagen, H. J. M., Ten Hagen, T. L. M., Majoor-Krakauer, D., van der Pluijm, I., Essers, J. & Yeung, K. K., 1 Dec 2021, In: Human Molecular Genetics. 30, 23, p. 2286-2299 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• Patient-Specific 3-Dimensional Model of Smooth Muscle Cell and Extracellular Matrix Dysfunction for the Study of Aortic Aneurysms

  Bogunovic, N., Meekel, J. P., Majolée, J., Hekhuis, M., Pyszkowski, J., Jockenhövel, S., Kruse, M., Riesebos, E., Micha, D., Blankensteijn, J. D., Hordijk, P. L., Ghazanfari, S. & Yeung, K. K., Aug 2021, In: Journal of endovascular therapy. 28, 4, p. 604-613 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)
• 2020

  Activin-A induces fewer, but larger osteoclasts from monocytes in both healthy controls and Fibrodysplasia Ossificans Progressiva patients

  Schoenmaker, T., Botman, E., Sariyildiz, M., Micha, D., Netelenbos, C., Bravenboer, N., Kelder, A., Eekhoff, E. M. W. & de Vries, T. J., 14 Jul 2020, In: Frontiers in Endocrinology. 11, 12 p., 501.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients

  Micha, D., Pals, G., Smit, T. H. & Ghazanfari, S., 8 Jan 2020, In: Biochemical and Biophysical Research Communications. 521, 2, p. 310-317 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Collaboration around rare bone diseases leads to the unique organizational incentive of the Amsterdam Bone Center

  Eekhoff, E. M. W., Micha, D., Forouzanfar, T., de Vries, T. J., Netelenbos, J. C., Klein-Nulend, J., van Loon, J. J. W. A., Lubbers, W. D., Schwarte, L., Schober, P., Raijmakers, P. G. H. M., Teunissen, B. P., de Graaf, P., Lammertsma, A. A., Yaqub, M. M., Botman, E., Treurniet, S., Smilde, B. J., Bökenkamp, A., Boonstra, A., & 33 othersKamp, O., Nieuwenhuijzen, J. A., Visser, M. C., Baayen, H. J. C., Dahele, M., Eeckhout, G. A. M., Goderie, T. P. M., Smits, C., Gilijamse, M., Karagozoglu, K. H., van de Valk, P., Dickhoff, C., Moll, A. C., Verbraak, F. F. D., Curro-Tafili, K. K. R., Ghyczy, E. A. E., Rustemeyer, T., Saeed, P., Maugeri, A., Pals, G., Ridwan-Pramana, A., Pekel, E., Lems, W., Winters, H. A. H., Botman, M., Giannakópoulos, G. F., Koolwijk, P., Smit, J. M., Helder, M. N., Janssen, J. J. W. M., Kloen, P., Bravenboer, N. & Janssen, J. M. W. M., 11 Aug 2020, In: Frontiers in Endocrinology. 11, 7 p., 481.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva

  Botman, E., Teunissen, B. P., Raijmakers, P., de Graaf, P., Yaqub, M., Treurniet, S., Schoenmaker, T., Bravenboer, N., Micha, D., Pals, G., Bökenkamp, A., Netelenbos, J. C., Lammertsma, A. A. & Eekhoff, E. M. W., 1 Jun 2020, In: JBMR Plus. 4, 6, p. e10363 6 p., e10363.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)

• Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

  van Dijk, F. S., Semler, O., Etich, J., Köhler, A., Jimenez-Estrada, J. A., Bravenboer, N., Claeys, L., Riesebos, E., Gegic, S., Piersma, S. R., Jimenez, C. R., Waisfisz, Q., Flores, C. L., Nevado, J., Harsevoort, A. J., Janus, G. J. M., Franken, A. A. M., van der Sar, A. M., Meijers-Heijboer, H., Heath, K. E., & 18 othersLapunzina, P., Nikkels, P. G. J., Santen, G. W. E., Nüchel, J., Plomann, M., Wagener, R., Rehberg, M., Hoyer-Kuhn, H., Eekhoff, E. M. W., Pals, G., Mörgelin, M., Newstead, S., Wilson, B. T., Ruiz-Perez, V. L., Maugeri, A., Netzer, C., Zaucke, F. & Micha, D., 5 Nov 2020, In: American journal of human genetics. 107, 5, p. 989 - 999 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  35 Citations (Scopus)

• When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature

  Botman, E., Treurniet, S., Lubbers, W. D., Schwarte, L. A., Schober, P. R., Sabelis, L., Peters, E. J. G., van Schie, A., de Vries, R., Grunwald, Z., Smilde, B. J., Nieuwenhuijzen, J. A., Visser, M., Micha, D., Bravenboer, N., Coen Netelenbos, J., Teunissen, B. P., de Graaf, P., Raijmakers, P. G. H. M., Smit, J. M., & 1 othersEekhoff, E. M. W., 21 Aug 2020, In: Frontiers in Endocrinology. 11, 570.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  4 Citations (Scopus)
• 2019

  Evolution of heterotopic bone in fibrodysplasia ossificans progressiva: An [F-18]NaF PET/CT study

  Botman, E., Raijmakers, P. G. H. M., Yaqub, M., Teunissen, B., Netelenbos, C., Lubbers, W., Schwarte, L. A., Micha, D., Bravenboer, N., Schoenmaker, T., de Vries, T. J., Pals, G., Smit, J. M., Koolwijk, P., Trotter, D. G., Lammertsma, A. A. & Eekhoff, E. M. W., 1 Jul 2019, In: Bone. 124, p. 1-6

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Impaired smooth muscle cell contractility as a novel concept of abdominal aortic aneurysm pathophysiology

  Bogunovic, N., Meekel, J. P., Micha, D., Blankensteijn, J. D., Hordijk, P. L. & Yeung, K. K., 1 Dec 2019, In: Scientific reports. 9, 1, 6837.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  42 Citations (Scopus)

• Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome

  Peters, HE., Johnson, BN., Ehli, EA., Micha, D., Verhoeven, M., Davies, GE., Dekker, JJML., Overbeek, A., Berg, MHVD., van Dulmen-den Broeder, E., van Leeuwen, FE., Mijatovic, V., Boomsma, DI. & Lambalk, CB., 4 Jun 2019, In: Human Reproduction. 34, 6, p. 1117-1125 9 p., dez044.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  6 Citations (Scopus)

• Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: Further delineation of the phenotype

  Cannaerts, E., Kempers, M., Maugeri, A., Marcelis, C., Gardeitchik, T., Richer, J., Micha, D., Beauchesne, L., Timmermans, J., Vermeersch, P., Meyten, N., Chénier, S. B., van de Beek, G., Peeters, N., Alaerts, M., Schepers, D., van Laer, L., Verstraeten, A. & Loeys, B., 1 Apr 2019, In: Journal of medical genetics. 56, 4, p. 220-227 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  26 Citations (Scopus)

• Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

  Cozijnsen, L., Plomp, A. S., Post, J. G., Pals, G., Bogunovic, N., Yeung, K. K., Niessen, H. W. M., Goumans, M-J. T. H., Barge-Schaapveld, D. Q. C. M. & Micha, D., 1 Oct 2019, In: Molecular genetics and genomic medicine. 7, 10, e943.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• The effect of Activin-A on periodontal ligament fibroblasts-mediated osteoclast formation in healthy donors and in patients with fibrodysplasia ossificans progressiva

  Schoenmaker, T., Wouters, F., Micha, D., Forouzanfar, T., Netelenbos, C., Eekhoff, E. M. W., Bravenboer, N. & de Vries, T. J., Jul 2019, In: Journal of cellular physiology. 234, 7, p. 10238-10247

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  10 Citations (Scopus)

• The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

  Cayami, FK., Maugeri, A., Treurniet, S., Setijowati, E. D., Teunissen, B. P., Eekhoff, EMW., Pals, G., Faradz, S. M. & Micha, D., 1 Jan 2019, In: Molecular genetics and genomic medicine. 7, 8, e823.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  10 Citations (Scopus)
• 2018

  [18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva

  Eekhoff, E. M. W., Botman, E., Coen Netelenbos, J., de Graaf, P., Bravenboer, N., Micha, D., Pals, G., de Vries, T. J., Schoenmaker, T., Hoebink, M., Lammertsma, A. A. & Raijmakers, P. G. H. M., Apr 2018, In: Bone. 109, p. 143-146

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)

• An in vitro method to keep human aortic tissue sections functionally and structurally intact

  Meekel, J. P., Groeneveld, M. E., Bogunovic, N., Keekstra, N., Musters, R. J. P., Zandieh-Doulabi, B., Pals, G., Micha, D., Niessen, H. W. M., Wiersema, A. M., Kievit, J. K., Hoksbergen, A. W. J., Wisselink, W., Blankensteijn, J. D. & Yeung, K. K., 1 Dec 2018, In: Scientific reports. 8, 1, 8094.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)

• Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro

  Groeneveld, M. E., Bogunovic, N., Musters, R. J. P., Tangelder, G. J., Pals, G., Wisselink, W., Micha, D. & Yeung, K. K., Jan 2018, In: Cardiovascular pathology. 32, p. 44-49

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  14 Citations (Scopus)

• Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

  Paff, T., Kooi, I. E., Moutaouakil, Y., Riesebos, E., Sistermans, E. A., Daniels, H. J. M. A., Weiss, J. M. M., Niessen, H. H. W. M., Haarman, E. G., Pals, G. & Micha, D., 1 May 2018, In: Human mutation. 39, 5, p. 653-665 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  35 Citations (Scopus)

• Homozygous DMRT2 variant associates with severe rib malformations in a newborn

  Bouman, A., Waisfisz, Q., Admiraal, J., van de Loo, M., van Rijn, R. R., Dimitra, M., Oostra, R-J., Mathijssen, I. B. & Micha, D., May 2018, In: American journal of medical genetics. Part A. 176, 5, p. 1216-1221

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)

• Periodontal ligament fibroblasts as a cell model to study osteogenesis and osteoclastogenesis in fibrodysplasia ossificans progressiva

  de Vries, T. J., Schoenmaker, T., Micha, D., Hogervorst, J., Bouskla, S., Forouzanfar, T., Pals, G., Netelenbos, C., Eekhoff, E. M. W. & Bravenboer, N., 1 Apr 2018, In: Bone. 109, p. 168-177 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)
• 2017

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

  Paff, T., Loges, N. T., Aprea, I., Wu, K., Bakey, Z., Haarman, E. G., Daniels, J. M. A., Sistermans, E. A., Bogunovic, N., Dougherty, G. W., Höben, I. M., Große-Onnebrink, J., Matter, A., Olbrich, H., Werner, C., Pals, G., Schmidts, M., Omran, H. & Micha, D., 5 Jan 2017, In: American journal of human genetics. 100, 1, p. 160-168 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  115 Citations (Scopus)

• Recognizing the tenascin-X deficient type of Ehlers–Danlos syndrome: a cross-sectional study in 17 patients

  Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., Maugeri, A. & Voermans, N. C., 1 Mar 2017, In: Clinical genetics. 91, 3, p. 411-425 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  41 Citations (Scopus)

• The role of Na: K:2Cl cotransporter 1 (NKCC1/SLC12A2) in dental epithelium during enamel formation in mice

  Jalali, R., Lodder, J. C., Zandieh-Doulabi, B., Micha, D., Melvin, J. E., Catalan, M. A., Mansvelder, H. D., DenBesten, P. & Bronckers, A., 21 Nov 2017, In: Frontiers in physiology. 8, NOV, p. 1-13 13 p., 924.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  16 Citations (Scopus)

• Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms

  Yeung, K. K., Bogunovic, N., Keekstra, N., Beunders, A. A. M., Pals, J., van der Kuij, K., Overwater, E., Wisselink, W., Blankensteijn, J. D., van Hinsbergh, V. W. M., Musters, R. J. P., Pals, G., Micha, D. & Zandieh-Doulabi, B., Apr 2017, In: Human mutation. 38, 4, p. 439-450 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

  Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I., & 9 othersSuperti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 1 Dec 2017, In: Neurogenetics. 18, 4, p. 185-194 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  32 Citations (Scopus)
• 2016

  Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease

  Micha, D., Voermans, E., Eekhoff, M. E. W., van Essen, H. W., Zandieh-Doulabi, B., Netelenbos, C., Rustemeyer, T., Sistermans, E. A., Pals, G. & Bravenboer, N., Mar 2016, In: Bone. 84, p. 169-180

  Research output: Contribution to journal › Article › Academic › peer-review
  39 Citations (Scopus)
• 2015

  Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

  Franken, R., den Hartog, A. W., Radonic, T., Micha, D., Maugeri, A., van Dijk, F. S., Meijers-Heijboer, H. E., Timmermans, J., Scholte, A. J., van den Berg, M. P., Groenink, M., Mulder, B. J. M., Zwinderman, A. H., de Waard, V. & Pals, G., 2015, In: Circulation. Cardiovascular genetics. 8, 2, p. 383-388

  Research output: Contribution to journal › Article › Academic › peer-review
  132 Citations (Scopus)