Annick Raas-Rothschild

2025

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

2024

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

3 Scopus citations

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

van der Made, C. I., Kersten, S., Chorin, O., Engelhardt, K. R., Ramakrishnan, G., Griffin, H., Schim van der Loeff, I., Venselaar, H., Rothschild, A. R., Segev, M., Schuurs-Hoeijmakers, J. H. M., Mantere, T., Essers, R., Esteki, M. Z., Avital, A. L., Loo, P. S., Simons, A., Pfundt, R., Warris, A. & Seyger, M. M. & 14 others, van de Veerdonk, F. L., Netea, M. G., Slatter, M. A., Flood, T., Gennery, A. R., Simon, A. J., Lev, A., Frizinsky, S., Barel, O., van der Burg, M., Somech, R., Hambleton, S., Henriet, S. S. V. & Hoischen, A., 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 791-804 14 p.

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

Open Access

8 Scopus citations

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

Favier, M., Brischoux-Boucher, E., Pyle, L. C., Mottet, N., Auber-Lenoir, M., Cattin, J., Dahlen, E., Cabrol, C., Arbez-Gindre, F., Attié-Bitach, T., Boute, O., Devisme, L., Trost, D., Boughalem, A., Chitayat, D., Prasov, L., Chorin, O., Rein-Rothschild, A., Kassif, E. & Weissbach, T. & 15 others, Hendon, L. G., Adam, M. P., Quelin, C., Jaillard, S., Mary, L., Aukema, S. M., Heijligers, M., de Die-Smulders, C., Stegmann, S., Badalato, L., Ben-Yehuda, A., Beneteau, C., Forey, P. L., Kuentz, P. & Piard, J., Dec 2024, In: Prenatal Diagnosis. 44, 13, p. 1647-1658 12 p.

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

Open Access

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

Ung, D. C., Pietrancosta, N., Badillo, E. B., Raux, B., Tapken, D., Zlatanovic, A., Doridant, A., Pode-Shakked, B., Raas-Rothschild, A., Elpeleg, O., Abu-Libdeh, B., Hamed, N., Papon, M. A., Marouillat, S., Thépault, R. A., Stevanin, G., Elegheert, J., Letellier, M., Hollmann, M. & Lambolez, B. & 4 others, Tricoire, L., Toutain, A., Hepp, R. & Laumonnier, F., Apr 2024, In: Molecular Psychiatry. 29, 4, p. 1205-1215 11 p.

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

Open Access

2 Scopus citations

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Undiagnosed Diseases Network, Nov 2024, In: Genetics in Medicine. 26, 11, 101218.

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

Open Access

2023

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Kagan, M., Semo-Oz, R., Ben Moshe, Y., Atias-Varon, D., Tirosh, I., Stern-Zimmer, M., Eliyahu, A., Raas-Rothschild, A., Bivas, M., Shlomovitz, O., Chorin, O., Rock, R., Tzadok, M., Ben-Zeev, B., Heimer, G., Bolkier, Y., Gruber, N., Dagan, A., Bar Aluma, B. E. & Pessach, I. M. & 5 others, Rechavi, G., Barel, O., Pode-Shakked, B., Anikster, Y. & Vivante, A., 9 Jan 2023, In: Frontiers in Genetics. 13, 1018062.

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

Open Access

3 Scopus citations

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Ayers, K. L., Eggers, S., Rollo, B. N., Smith, K. R., Davidson, N. M., Siddall, N. A., Zhao, L., Bowles, J., Weiss, K., Zanni, G., Burglen, L., Ben-Shachar, S., Rosensaft, J., Raas-Rothschild, A., Jørgensen, A., Schittenhelm, R. B., Huang, C., Robevska, G., van den Bergen, J. & Casagranda, F. & 23 others, Cyza, J., Pachernegg, S., Wright, D. K., Bahlo, M., Oshlack, A., O’Brien, T. J., Kwan, P., Koopman, P., Hime, G. R., Girard, N., Hoffmann, C., Shilon, Y., Zung, A., Bertini, E., Milh, M., Ben Rhouma, B., Belguith, N., Bashamboo, A., MacElreavey, K., Banne, E., Weintrob, N., BenZeev, B. & Sinclair, A. H., Dec 2023, In: Nature Communications. 14, 1, 3403.

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

Open Access

8 Scopus citations

2022

A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights

Pode-Shakked, B., Ben-Moshe, Y., Barel, O., Regev, L. C., Kagan, M., Eliyahu, A., Marek-Yagel, D., Atias-Varon, D., Lahav, E., Issler, N., Shlomovitz, O., Semo Oz, R., Kol, N., Mor, N., Bar-Joseph, I., Khavkin, Y., Javasky, E., Beckerman, P., Greenberg, M. & Volovelsky, O. & 21 others, Borovitz, Y., Davidovits, M., Haskin, O., Alfandary, H., Levi, S., Kaidar, M., Katzir, Z., Angel-Korman, A., Becker-Cohen, R., Ben-Shalom, E., Leiba, A., Mor, E., Dagan, A., Pessach, I. M., Lotan, D., Shashar, M., Anikster, Y., Raas-Rothschild, A., Rechavi, G., Dekel, B. & Vivante, A., Jul 2022, In: Pediatric Nephrology. 37, 7, p. 1623-1646 24 p.

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

15 Scopus citations

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity

Chorin, O., Chowers, G., Agbariah, R., Karklinsky, S., Barel, O., Bar-Joseph, I., Reznik-Wolf, H., Shamash, J., Pode-Shakked, B., Jacobson, J. M., Huna-Baron, R., Redler, Y., Tirosh, I., Vivante, A. & Raas-Rothschild, A., Jan 2022, In: European Journal of Medical Genetics. 65, 1, 104383.

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

8 Scopus citations

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV

Misko, A. L., Wood, L. B., DeBono, M., Oberman, R., Raas-Rothschild, A., Grishchuk, Y. & Eichler, F., 10 Apr 2022, In: Neurology: Genetics. 8, 2, e662.

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

Open Access

4 Scopus citations

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Harapas, C. R., Robinson, K. S., Lay, K., Wong, J., Moreno Traspas, R., Nabavizadeh, N., Rass-Rothschild, A., Boisson, B., Drutman, S. B., Laohamonthonkul, P., Bonner, D., Xiong, J. R., Gorrell, M. D., Davidson, S., Yu, C. H., Fleming, M. D., Gudera, J., Stein, J., Ben-Harosh, M. & Groopman, E. & 9 others, Shimamura, A., Tamary, H., Kayserili, H., Hatipoğlu, N., Casanova, J. L., Bernstein, J. A., Zhong, F. L., Masters, S. L. & Reversade, B., Sep 2022, In: Science immunology. 7, 75, eabi4611.

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

Open Access

21 Scopus citations

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

TUDP Study Group & Broad Center for Mendelian Genomics, 7 Apr 2022, In: American Journal of Human Genetics. 109, 4, p. 601-617 17 p.

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

Open Access

20 Scopus citations

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

Baker, E. K., Solivio, B., Pode-Shakked, B., Cross, L. A., Sullivan, B., Raas-Rothschild, A., Chorin, O., Barel, O., Bar-Yosef, O., Husami, A., Hopkin, R. J., Prada, C. E., Stottmann, R. W. & Weaver, K. N., Nov 2022, In: American Journal of Medical Genetics, Part A. 188, 11, p. 3262-3277 16 p.

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

7 Scopus citations

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Eliyahu, A., Barel, O., Greenbaum, L., Zaks Hoffer, G., Goldberg, Y., Raas-Rothschild, A., Singer, A., Bar-Joseph, I., Kunik, V., Javasky, E., Staretz-Chacham, O., Pode-Shakked, N., Bazak, L., Ruhrman-Shahar, N., Pras, E., Frydman, M., Shohat, M. & Pode-Shakked, B., 30 Mar 2022, In: Frontiers in Pediatrics. 10, 844845.

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

Open Access

9 Scopus citations

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Schwarz, N., Seiffert, S., Pendziwiat, M., Rademacher, A. V., Brünger, T., Hedrich, U. B. S., Augustijn, P. B., Baier, H., Bayat, A., Bisulli, F., Buono, R. J., Bruria, B. Z., Doyle, M. G., Guerrini, R., Heimer, G., Iacomino, M., Kearney, H., Klein, K. M., Kousiappa, I. & Kunz, W. S. & 28 others, Lerche, H., Licchetta, L., Lohmann, E., Minardi, R., McDonald, M., Montgomery, S., Mulahasanovic, L., Oegema, R., Ortal, B., Papacostas, S. S., Ragona, F., Granata, T., Reif, P. S., Rosenow, F., Rothschild, A., Scudieri, P., Striano, P., Tinuper, P., Tanteles, G. A., Vetro, A., Zahnert, F., Goldberg, E. M., Zara, F., Lal, D., May, P., Muhle, H., Helbig, I. & Weber, Y., 17 May 2022, In: Neurology. 98, 20, p. E2046-E2059

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

Open Access

15 Scopus citations

Vici syndrome in Israel: Clinical and molecular insights

Chorin, O., Hirsch, Y., Rock, R., Salzer Sheelo, L., Goldberg, Y., Mandel, H., Hershkovitz, T., Fleischer, N., Greenbaum, L., Katz, U., Barel, O., Hamed, N., Ben-Zeev, B., Greenberger, S., Nasser Samra, N., Stern Zimmer, M., Raas-Rothschild, A. & Pode-Shakked, B., 20 Sep 2022, In: Frontiers in Genetics. 13, 991721.

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

Open Access

2 Scopus citations

What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?

Liber, S., Staretz-Chacham, O., Kishon, M., Pode-Shakked, B., Chorin, O., Kneller, K., Anikster, Y., Mangisto, G., Saada, A. & Raas-Rothschild, A., 1 Feb 2022, In: Molecular Syndromology. 13, 1, p. 45-49 5 p.

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

Open Access

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

Bolkier, Y., Barel, O., Marek-Yagel, D., Atias-Varon, D., Kagan, M., Vardi, A., Mishali, D., Katz, U., Salem, Y., Tirosh-Wagner, T., Jacobson, J. M., Raas-Rothschild, A., Chorin, O., Eliyahu, A., Sarouf, Y., Shlomovitz, O., Veber, A., Shalva, N., Javasky, E. & Ben Moshe, Y. & 6 others, Staretz-Chacham, O., Rechavi, G., Mane, S., Anikster, Y., Vivante, A. & Pode-Shakked, B., 1 Jul 2022, In: Journal of Medical Genetics. 59, 7, p. 691-696 6 p.

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

20 Scopus citations

2021

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Pode-Shakked, B., Barel, O., Singer, A., Regev, M., Poran, H., Eliyahu, A., Finezilber, Y., Segev, M., Berkenstadt, M., Yonath, H., Reznik-Wolf, H., Gazit, Y., Chorin, O., Heimer, G., Gabis, L. V., Tzadok, M., Nissenkorn, A., Bar-Yosef, O., Zohar-Dayan, E. & Ben-Zeev, B. & 16 others, Mor, N., Kol, N., Nayshool, O., Shimshoviz, N., Bar-Joseph, I., Marek-Yagel, D., Javasky, E., Einy, R., Gal, M., Grinshpun-Cohen, J., Shohat, M., Dominissini, D., Raas-Rothschild, A., Rechavi, G., Pras, E. & Greenbaum, L., Dec 2021, In: Scientific Reports. 11, 1, 19099.

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

Open Access

17 Scopus citations

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Kummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp-Versteeg, M., Schepens, M., Man, C. C. O., Gilissen, C., Cho, M. T., McWalter, K., Sinnema, M., Wheless, J. W., Simon, M. E. H., Genetti, C. A., Casey, A. M., Terhal, P. A., van der Smagt, J. J., van Gassen, K. L. I. & Joset, P. & 23 others, Bahr, A., Steindl, K., Rauch, A., Keller, E., Raas-Rothschild, A., Koolen, D. A., Agrawal, P. B., Hoffman, T. L., Powell-Hamilton, N. N., Thiffault, I., Engleman, K., Zhou, D., Bodamer, O., Hoefele, J., Riedhammer, K. M., Schwaibold, E. M. C., Tasic, V., Schubert, D., Top, D., Pfundt, R., Higgs, M. R., Kramer, J. M. & Kleefstra, T., Jun 2021, In: Molecular Psychiatry. 26, 6, p. 2013-2024 12 p.

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

Open Access

48 Scopus citations

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

UCLA California Center for Rare Disease, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 136.

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

Open Access

5 Scopus citations

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Care4Rare Canada Consortium, Sep 2021, In: European Journal of Human Genetics. 29, 9, p. 1405-1417 13 p.

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

Open Access

8 Scopus citations

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature

Merdler-Rabinowicz, R., Prat, D., Pode-Shakked, B., Abel, G., Chorin, O., Somech, R. & Raas-Rothschild, A., Jun 2021, In: European Journal of Medical Genetics. 64, 6, 104210.

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

6 Scopus citations

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Kristal, E., Pode-Shakked, B., Hazan, G., Banne, E., Ling, G., David, O., Shany, E., Raas-Rothschild, A., Anikster, Y., Kneller, K., Hershkovitz, E., Landau, Y. E., Spiegel, R., Zehavi, Y. & Staretz-Chacham, O., Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 379.

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

Open Access

8 Scopus citations

2020

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

Marek-Yagel, D., Bolkier, Y., Barel, O., Vardi, A., Mishali, D., Katz, U., Salem, Y., Abudi, S., Nayshool, O., Kol, N., Raas-Rothschild, A., Rechavi, G., Anikster, Y. & Pode-Shakked, B., 1 May 2020, In: American Journal of Medical Genetics, Part A. 182, 5, p. 987-993 7 p.

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

7 Scopus citations

Enhanced collagen deposition in the duodenum of patients with hyaline fibromatosis syndrome and protein losing enteropathy

van Rijn, J. M., Werner, L., Aydemir, Y., Spronck, J. M. A., Pode-Shakked, B., van Hoesel, M., Shimshoni, E., Polak-Charcon, S., Talmi, L., Eren, M., Weiss, B., Houwen, R. H. J., Barshack, I., Somech, R., Nieuwenhuis, E. E. S., Sagi, I., Raas-Rothschild, A., Middendorp, S. & Shouval, D. S., 1 Nov 2020, In: International Journal of Molecular Sciences. 21, 21, p. 1-16 16 p., 8200.

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

Open Access

4 Scopus citations

Ethical Dilemmas Linked to Fragile X Testing of Minors—a Preliminary Survey Among Professionals

Gabis, L. V., Shefer, S. & Raas-Rothschild, A., 1 Feb 2020, In: Journal of Molecular Neuroscience. 70, 2, p. 254-259 6 p.

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

2 Scopus citations

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome

Merdler-Rabinowicz, R., Pode-Shakked, B., Vivante, A., Lahav, E., Kagan, M., Chorin, O., Somech, R. & Raas-Rothschild, A., Dec 2020, In: Pediatric Nephrology. 36, 12, p. 4009-4012 4 p.

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

10 Scopus citations

Long-term outcomes of early enzyme replacement therapy for mucopolysaccharidosis IV: Clinical case studies of two siblings

Barak, S., Anikster, Y., Sarouk, I., Stern, E., Eisenstein, E., Yissar, T., Sherr-Lurie, N., Raas-Rothschild, A. & Guttman, D., 2020, In: Diagnostics. 10, 2, 108.

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

Open Access

5 Scopus citations

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Baylor-Hopkins Center for Mendelian Genomics, 1 Jan 2020, In: American Journal of Medical Genetics, Part A. 182, 1, p. 38-52 15 p.

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

Open Access

38 Scopus citations

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping

Pode-Shakked, B., Finezilber, Y., Levi, Y., Liber, S., Fleischer, N., Greenbaum, L. & Raas-Rothschild, A., Jul 2020, In: European Journal of Medical Genetics. 63, 7, 103927.

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

9 Scopus citations

2019

BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Pode-Shakked, N., Barel, O., Pode-Shakked, B., Eliyahu, A., Singer, A., Nayshool, O., Kol, N., Raas-Rothschild, A., Pras, E. & Shohat, M., Jun 2019, In: Molecular Genetics and Genomic Medicine. 7, 6, e665.

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

Open Access

24 Scopus citations

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Greenbaum, L., Gilboa, Y., Raas-Rothschild, A., Barel, O., Kol, N., Reznik-Wolf, H., Pode-Shakked, B., Finezilber, Y., Messing, B. & Berkenstadt, M., Mar 2019, In: European Journal of Medical Genetics. 62, 3, p. 167-171 5 p.

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

7 Scopus citations

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T. & Raas-Rothschild, A. & 4 others, Ben-Zeev, B., Basel-Salmon, L., Behar, D. M. & Heimer, G., May 2019, In: European Journal of Paediatric Neurology. 23, 3, p. 418-426 9 p.

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

16 Scopus citations

PEDIA: prioritization of exome data by image analysis

Hsieh, T. C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S. & Douzgou, S. & 74 others, Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C. E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E. K., Sznajer, Y., Thiel, C. T., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., 1 Dec 2019, In: Genetics in Medicine. 21, 12, p. 2807-2814 8 p.

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

Open Access

60 Scopus citations

Phenotype variability in Hajdu-Cheney syndrome

Regev, M., Pode-Shakked, B., Jacobson, J. M., Raas-Rothschild, A., Goldstein, D. B. & Anikster, Y., Jan 2019, In: European Journal of Medical Genetics. 62, 1, p. 35-38 4 p.

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

12 Scopus citations

2018

LMOD3-associated nemaline myopathy: Prenatal ultrasonographic, pathologic, and molecular findings

Berkenstadt, M., Pode-Shakked, B., Barel, O., Barash, H., Achiron, R., Gilboa, Y., Kidron, D. & Raas-Rothschild, A., Jul 2018, In: Journal of Ultrasound in Medicine. 37, 7, p. 1827-1833 7 p.

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

11 Scopus citations

The genetics of usher syndrome in the Israeli and palestinian populations

Khalaileh, A., Abu-Diab, A., Ben-Yosef, T., Raas-Rothschild, A., Lerer, I., Alswaiti, Y., Chowers, I., Banin, E., Sharon, D. & Khateb, S., Feb 2018, In: Investigative Ophthalmology and Visual Science. 59, 2, p. 1095-1104 10 p.

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

Open Access

10 Scopus citations

2017

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Janecke, A. R., Xu, R., Steichen-Gersdorf, E., Waldegger, S., Entenmann, A., Giner, T., Krainer, I., Huber, L. A., Hess, M. W., Frishberg, Y., Barash, H., Tzur, S., Schreyer-Shafir, N., Sukenik–Halevy, R., Zehavi, T., Raas-Rothschild, A., Mao, C. & Müller, T., 1 Apr 2017, In: Human Mutation. 38, 4, p. 365-372 8 p.

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

Open Access

69 Scopus citations

Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

Segal, P., Pode-Shakked, B. & Raas-Rothschild, A., 1 Jun 2017, In: European Journal of Medical Genetics. 60, 6, p. 340-344 5 p.

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

3 Scopus citations

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Vivante, A., Ityel, H., Pode-Shakked, B., Chen, J., Shril, S., van der Ven, A. T., Mann, N., Schmidt, J. M., Segel, R., Aran, A., Zeharia, A., Staretz-Chacham, O., Bar-Yosef, O., Raas-Rothschild, A., Landau, Y. E., Lifton, R. P., Anikster, Y. & Hildebrandt, F., 1 Dec 2017, In: Pediatric Nephrology. 32, 12, p. 2273-2282 10 p.

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

Open Access

34 Scopus citations

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

Egunsola, A. T., Bae, Y., Jiang, M. M., Liu, D. S., Chen-Evenson, Y., Bertin, T., Chen, S., Lu, J. T., Nevarez, L., Magal, N., Raas-Rothschild, A., Swindell, E. C., Cohn, D. H., Gibbs, R. A., Campeau, P. M., Shohat, M. & Lee, B. H., 3 Apr 2017, In: Journal of Clinical Investigation. 127, 4, p. 1475-1484 10 p.

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

Open Access

48 Scopus citations

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., Carvalho, K. S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben-Zeev, B., Bar-Yosef, O., Marek-Yagel, D., Bertini, E., Duker, A. L., Anikster, Y., Tartaglia, M. & Raas-Rothschild, A., 1 May 2017, In: Clinical Genetics. 91, 5, p. 725-738 14 p.

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

24 Scopus citations

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., Kazue-Sugioka, D., Raas-Rothschild, A., Doulazmi, M., Carrera, P., Stachon, A., Scherer, S., Drula Do Nascimento, M. R., Trembleau, A., Arroyo, I., Szatmari, P., Smith, I. M., Mila, M., Smith, A. C. & Giangrande, A. & 2 others, Caillé, I. & Bardoni, B., 1 Apr 2017, In: DMM Disease Models and Mechanisms. 10, 4, p. 463-474 12 p.

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

Open Access

47 Scopus citations

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Kämpe, A. J., Costantini, A., Levy-shraga, Y., Zeitlin, L., Roschger, P., Taylan, F., Lindstrand, A., Paschalis, E. P., Gamsjaeger, S., Raas-Rothschild, A., Hövel, M., Jiao, H., Klaushofer, K., Grasemann, C. & Mäkitie, O., Dec 2017, In: Journal of Bone and Mineral Research. 32, 12, p. 2394-2404 11 p.

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

Open Access

38 Scopus citations

2016

Combined immunodeficiency in a patient with mosaic monosomy 21

Rechavi, E., Levy-Mendelovich, S., Stauber, T., Shamash, J., Reinstein, S., Vernitsky, H., Adam, D., Simon, A. J., Lev, A., Raas-Rothschild, A. & Somech, R., 1 Aug 2016, In: Immunologic Research. 64, 4, p. 841-847 7 p.

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

5 Scopus citations

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Reinstein, E., Gutierrez-Fernandez, A., Tzur, S., Bormans, C., Marcu, S., Tayeb-Fligelman, E., Vinkler, C., Raas-Rothschild, A., Irge, D., Landau, M., Shohat, M., Puente, X. S., Behar, D. M. & Lopez-Otin, C., 1 Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1792-1796 5 p.

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

Open Access

36 Scopus citations

EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W. & Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D. T., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N. J., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., 1 Mar 2016, In: Brain. 139, 3, p. 765-781 17 p.

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

Open Access

103 Scopus citations

Extensive Mongolian Spots and Lysosomal Storage Diseases

Mimouni-Bloch, A., Finezilber, Y., Rothschild, M. & Raas-Rothschild, A., 1 Mar 2016, In: Journal of Pediatrics. 170, p. 333-333.e1

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

Open Access

9 Scopus citations

Annick Raas-Rothschild

Research output

Search results