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41 results

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Page 1
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS. Shamseldin HE, et al. Among authors: ababneh f. Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1. Hum Genet. 2023. PMID: 37656279
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: ababneh f. BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y. BMC Pediatr. 2019. PMID: 31196016 Free PMC article.
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: ababneh f. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021. Front Pediatr. 2021. PMID: 34055681 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: ababneh f. 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.
The variant artificial intelligence easy scoring (VARIES) system.
Aloraini T, Aljouie A, Alniwaider R, Alharbi W, Alsubaie L, AlTuraif W, Qureshi W, Alswaid A, Eyiad W, Al Mutairi F, Ababneh F, Alfadhel M, Alfares A. Aloraini T, et al. Among authors: ababneh f. Comput Biol Med. 2022 Jun;145:105492. doi: 10.1016/j.compbiomed.2022.105492. Epub 2022 Apr 14. Comput Biol Med. 2022. PMID: 35585733
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, Maroofian R. Ortigoza-Escobar JD, et al. Among authors: ababneh f. Mov Disord. 2024 Sep;39(9):1624-1630. doi: 10.1002/mds.29883. Epub 2024 Jun 20. Mov Disord. 2024. PMID: 38899514
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M. Alshamlani LK, et al. Among authors: ababneh f. Appl Clin Genet. 2024 Oct 3;17:151-158. doi: 10.2147/TACG.S476350. eCollection 2024. Appl Clin Genet. 2024. PMID: 39377010 Free PMC article.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, Rashid M, Alswaid A, Alothaim A, Eyaid W, Ababneh F, Albalwi M, Alotaibi R, Almutairi M, Altharawi N, Alsamer A, Abdelhakim M, Kafkas S, Mineta K, Cheung N, Abdallah AM, Büchmann-Møller S, Fukasawa Y, Zhao X, Rajan I, Hoehndorf R, Al Mutairi F, Gojobori T, Alfadhel M. Alfares A, et al. Among authors: ababneh f. BMC Med Genomics. 2020 Jul 17;13(1):103. doi: 10.1186/s12920-020-00743-8. BMC Med Genomics. 2020. PMID: 32680510 Free PMC article.
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Leslie EJ, et al. Among authors: ababneh f. Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. Am J Med Genet A. 2015. PMID: 25691407 Free PMC article.
41 results