Annick Raas-Rothschild

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123 Article
10 Letter
7 Review article
3 Chapter
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- 3 Comment/debate

LONP1 Variants Are Associated With Clinically Diverse Phenotypes
Undiagnosed Diseases Network, Mar 2026, In: Clinical Genetics. 109, 3, p. 437-457 21 p.
Research output: Contribution to journal › Article › peer-review
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Chorin, O., Greenbaum, L., Lev-Hochberg, S., Feinstein-Goren, N., Eliyahu, A., Shani, H., Pras, E., Weissbach, T., Bolkier, Y., Heimer, G., Lev, D., Michelson, M., Regev, M., Josefsberg, S., Batzir, N. A., Shalata, A., Spiegel, R., Segel, R., Lobel, O. & Abu-Libdeh, B. & 5 others, Shohat, M., Frydman, M., Hady-Cohen, R., Pode-Shakked, B. & Rein-Rothschild, A., Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 132.
Research output: Contribution to journal › Article › peer-review

Open Access
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
Undiagnosed Diseases Network, 2025, (Accepted/In press) In: Clinical Genetics.
Research output: Contribution to journal › Article › peer-review
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Asadollahi, R., Ahmad, A., Boonsawat, P., Shahanoor Hinzen, J., Lohse, M., Bouazza-Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K. & Reinson, K. & 130 others, Wojcik, M. H., Marshall, C. R., Mercimek-Andrews, S., Matsumoto, N., Miyake, N., Stephan, B. D. O., Honjo, R. S., Bertola, D. R., Kim, C. A., Yusupov, R., Mefford, H. C., Christodoulou, J., Lee, J., Heath, O., Brown, N. J., Baker, N., Stark, Z., Delatycki, M., Lake, N. J., Zeidler, S., Zuurbier, L., Maas, S. M., de Kruiff, C. C., Rajabi, F., Rodan, L. H., Coury, S. A., Platzer, K., Oppermann, H., Abou Jamra, R., Beblo, S., Maxton, C., Śmigiel, R., Underhill, H., Dubbs, H., Rosen, A., Helbig, K. L., Helbig, I., Ruggiero, S. M. K., Fitzgerald, M. P., Kraemer, D., Prada, C. E., Tenney, J., Jayakar, P., Redon, S., Lefranc, J., Uguen, K., Race, S., Efthymiou, S., Maroofian, R., Houlden, H., Coppens, S., Deconinck, N., Ashokkumar, B., Varalakshmi, P., Gowda K, V. R., Eghbal, F., Ghayoor Karimiani, E., Heidari, M., Neidhardt, J., Owczarek-Lipska, M., Korenke, G. C., Bamshad, M. J., Campeau, P. M., Lehman, A., Hendon, L. G., Wentzensen, I. M., Monaghan, K. G., Chen, Y., Szuto, A., Cohn, R. D., Au, P. Y. B., Hübner, C., Boschann, F., Manickam, K., Koboldt, D. C., Rad, A., Oprea, G., Bachman, K. K., Seeley, A. H., Agolini, E., Terracciano, A., Carmelo, P., Bupp, C., Grysko, B., Rein-Rothschild, A., Ben Zeev, B., Margolin, A., Morrison, J., Dagli, A., Stolerman, E., Louie, R. J., Washington, C., Stevens, S. J. C., Heijligers, M., Alkuraya, F. S., Lisfeld, J., Neu, A., Paoli Monteiro, F., Santos Pessoa, A. L., Camelo-Filho, A. E., Kok, F., Koeberl, D., Riley, K., Burglen, L., Doummar, D., Héron, B., Mignot, C., Keren, B., Charles, P., Nava, C., Bernhard, F. P., Kühn, A. A., Thoms, S., Morrie, R. D., Mekhoubad, S., Green, E. M., Barmada, S. J., Gitler, A. D., Jahn, O., Rhee, J. S., Rosenmund, C., Mitkovski, M., Sticht, H., Sun, H., Le Gac, G., Taschenberger, H., Brose, N., Dittman, J. S., Rauch, A. & Lipstein, N., Nov 2025, In: Nature Genetics. 57, 11, p. 2691-2704 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study
Barg, A. A., Yeshayahu, Y., Avishai, E., Budnik, I., Cohen, O., Brutman-Barazani, T., Dardik, R., Raas-Rothschild, A., Levy-Mendelovich, S., Livnat, T., Pinhas-Hamiel, O. & Kenet, G., Feb 2024, In: Pediatric Blood and Cancer. 71, 2, e30761.
Research output: Contribution to journal › Article › peer-review

Open Access
4 Scopus citations

Annick Raas-Rothschild

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Collaborations and top research areas from the last five years

Dive into details

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study

Annick Raas-Rothschild

Fingerprint

Collaborations and top research areas from the last five years

Research output

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study