Arjan Bouman

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17 Article

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G., Lütjohann, D., Jacobs, E. H., & 32 othersHoulden, H., Pagnamenta, A. T., Metcalfe, K., Jackson, A., Banka, S., De Simone, L., Schwaede, A., Kuntz, N., Palculict, T. B., Abbas, S., Umair, M., AlMuhaizea, M., Colak, D., AlQudairy, H., Alsagob, M., Pereira, C., Trunzo, R., Karageorgou, V., Bertoli-Avella, A. M., Bauer, P., Bouman, A., Hoefsloot, L. H., van Ham, T. J., Issa, M., Zaki, M. S., Gleeson, J. G., Willemsen, R., Kaya, N., Arold, S. T., Maroofian, R., Sanderson, L. E. & Barakat, T. S., 29 Apr 2023, (E-pub ahead of print) In: Acta Neuropathologica.
Research output: Contribution to journal › Article › Academic › peer-review

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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Calame, D. G., Herman, I., Maroofian, R., Marshall, A. E., Donis, K. C., Fatih, J. M., Mitani, T., Du, H., Grochowski, C. M., Sousa, S. B., Gijavanekar, C., Bakhtiari, S., Ito, Y. A., Rocca, C., Hunter, J. V., Sutton, V. R., Emrick, L. T., Boycott, K. M., Lossos, A., Fellig, Y., & 45 othersPrus, E., Kalish, Y., Meiner, V., Suerink, M., Ruivenkamp, C., Muirhead, K., Saadi, N. W., Zaki, M. S., Bouman, A., Barakat, T. S., Skidmore, D. L., Osmond, M., Silva, T. O., Murphy, D., Karimiani, E. G., Jamshidi, Y., Jaddoa, A. G., Tajsharghi, H., Jin, S. C., Abbaszadegan, M. R., Ebrahimzadeh-Vesal, R., Hosseini, S., Alavi, S., Bahreini, A., Zarean, E., Salehi, M. M., Al-Sannaa, N. A., Zifarelli, G., Bauer, P., Robson, S. C., Coban-Akdemir, Z., Travaglini, L., Nicita, F., Jhangiani, S. N., Gibbs, R. A., Posey, J. E., Kruer, M. C., Kernohan, K. D., Morales Saute, J. A., Houlden, H., Vanderver, A., Elsea, S. H., Pehlivan, D., Marafi, D. & Lupski, J. R., Aug 2022, In: Annals of Neurology. 92, 2, p. 304-321 18 p.
Research output: Contribution to journal › Article › Academic › peer-review
De novo variants in the PABP domain of PABPC1 lead to developmental delay
Wegler, M., Jia, X., Alders, M., Bouman, A., Chen, J., Duan, X., Lauzon, J. L., Mathijssen, I. B., Sticht, H., Syrbe, S., Tan, S., Guo, H. & Abou Jamra, R., 1 Aug 2022, In: Genetics in Medicine. 24, 8, p. 1761-1773 13 p.
Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus)
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding
Zondag, T. C. E., Torralba-Raga, L., Van Laar, J. A. M., Hermans, M. A. W., Bouman, A., Hollink, I. H. I. M., Van Hagen, P. M., Briggs, D. A., Hume, A. N. & Bryceson, Y. T., Nov 2022, In: Journal of Clinical Immunology. 42, 8, p. 1685-1695 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry, S., Zhang, J., Besnard, T., Caro-Llopis, A., Zeng, X., Robert, S. M., Josiah, S. S., Kiziltug, E., Denommé-Pichon, A. S., Cogné, B., Kundishora, A. J., Hao, L. T., Li, H., Stevenson, R. E., Louie, R. J., Deb, W., Torti, E., Vignard, V., McWalter, K., Raymond, F. L., & 60 othersRajabi, F., Ranza, E., Grozeva, D., Coury, S. A., Blanc, X., Brischoux-Boucher, E., Keren, B., Õunap, K., Reinson, K., Ilves, P., Wentzensen, I. M., Barr, E. E., Guihard, S. H., Charles, P., Seaby, E. G., Monaghan, K. G., Rio, M., van Bever, Y., van Slegtenhorst, M., Chung, W. K., Wilson, A., Quinquis, D., Bréhéret, F., Retterer, K., Lindenbaum, P., Scalais, E., Rhodes, L., Stouffs, K., Pereira, E. M., Berger, S. M., Milla, S. S., Jaykumar, A. B., Cobb, M. H., Panchagnula, S., Duy, P. Q., Vincent, M., Mercier, S., Gilbert-Dussardier, B., Le Guillou, X., Audebert-Bellanger, S., Odent, S., Schmitt, S., Boisseau, P., Bonneau, D., Toutain, A., Colin, E., Pasquier, L., Redon, R., Bouman, A., Rosenfeld, J. A., Friez, M. J., Pérez-Peña, H., Akhtar Rizvi, S. R., Haider, S., Antonarakis, S. E., Schwartz, C. E., Martínez, F., Bézieau, S., Kahle, K. T. & Isidor, B., 1 Sept 2022, In: Genetics in Medicine. 24, 9, p. 1941-1951 11 p.
Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus)

Arjan Bouman

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

De novo variants in the PABP domain of PABPC1 lead to developmental delay

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Arjan Bouman

Fingerprint

Network

Research output

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

De novo variants in the PABP domain of PABPC1 lead to developmental delay

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding

Rare pathogenic variants in WNK3 cause X-linked intellectual disability