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Page 1
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: alswaid a. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
AlGhamdi A, Alrifai MT, Al Hammad AI, Al Mutairi F, Alswaid A, Eyaid W, Alfadhel M. AlGhamdi A, et al. Among authors: alswaid a. J Child Neurol. 2018 Oct;33(11):713-717. doi: 10.1177/0883073818786157. Epub 2018 Jul 17. J Child Neurol. 2018. PMID: 30014764
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alswaid af. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U. Terhal P, et al. Among authors: alswaid a. Am J Hum Genet. 2023 Sep 7;110(9):1470-1481. doi: 10.1016/j.ajhg.2023.07.011. Epub 2023 Aug 14. Am J Hum Genet. 2023. PMID: 37582359 Free PMC article.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: alswaid a. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M, Almuqbil M, Al Mutairi F, Umair M, Almannai M, Alghamdi M, Althiyab H, Albarakati R, Bashiri FA, Alshuaibi W, Ba-Armah D, Saleh MA, Al-Asmari A, Faqeih E, Altuwaijri W, Al-Rumayyan A, Balwi MA, Ababneh F, Alswaid AF, Eyaid WM, Almontashiri NAM, Alhashem A, Hundallah K, Bertoli-Avella A, Bauer P, Beetz C, Alrifai MT, Alfares A, Tabarki B. Alfadhel M, et al. Among authors: alswaid af. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021. Front Pediatr. 2021. PMID: 34055681 Free PMC article.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alswaid af. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M, Obaid A, Al Mutairi F, Saleh M, Elamin M, Ahmed H, Ababneh F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Aljeraisy M, Hussein MA, Alasmari A, Alfadhel M. Nashabat M, et al. Among authors: alswaid a. BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y. BMC Pediatr. 2019. PMID: 31196016 Free PMC article.
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A. Alfadhel M, et al. Among authors: alswaid a. Orphanet J Rare Dis. 2021 Oct 11;16(1):422. doi: 10.1186/s13023-021-02032-8. Orphanet J Rare Dis. 2021. PMID: 34635114 Free PMC article. Clinical Trial.
48 results