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Year Number of Results
2009 1
2010 2
2011 1
2012 5
2013 3
2014 3
2015 3
2016 1
2017 3
2018 6
2019 7
2020 6
2021 4
2022 7
2023 3
2024 3

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Page 1
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: shboul m. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
Torticollis in Connection with Spine Phenotype.
Al Kaissi A, Nassib N, Bouchoucha S, Shboul M, Grill F, Kircher SG, Ochirova P, Ryabykh S. Al Kaissi A, et al. Among authors: shboul m. Diagnostics (Basel). 2022 Jul 9;12(7):1672. doi: 10.3390/diagnostics12071672. Diagnostics (Basel). 2022. PMID: 35885576 Free PMC article.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: shboul m. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Infantile systemic hyalinosis: Variable grades of severity.
Al Kaissi A, Hilmi M, Betadolova Z, Bouchoucha S, Trofimova S, Shboul M, Rustamov G, Dwera W, Sigl K, Kenis V, Kircher SG. Al Kaissi A, et al. Among authors: shboul m. Afr J Paediatr Surg. 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20. Afr J Paediatr Surg. 2021. PMID: 34341308 Free PMC article.
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Al Kaissi A, Ryabykh S, Nassib N, Bouchoucha S, Benjemaa L, Rejeb I, Hizem S, Kenis V, Grill F, Kircher SG, Shboul M, Ben Chehida F. Al Kaissi A, et al. Among authors: shboul m. Diagnostics (Basel). 2022 Sep 30;12(10):2375. doi: 10.3390/diagnostics12102375. Diagnostics (Basel). 2022. PMID: 36292064 Free PMC article.
Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.
Al Kaissi A, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Among authors: shboul m. Medicines (Basel). 2019 May 29;6(2):60. doi: 10.3390/medicines6020060. Medicines (Basel). 2019. PMID: 31146331 Free PMC article.
50 results