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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Riedhammer KM, Burgemeister AL, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, Hertecant J, Kannouche PL, Pouvelle C, Htun S, Slavotinek AM, Beetz C, Diego-Alvarez D, Kampe K, Fleischer N, Awamleh Z, Weksberg R, Kopajtich R, Meitinger T, Suleiman J, El-Hattab AW. Riedhammer KM, et al. Hum Mol Genet. 2022 Sep 10;31(18):3083-3094. doi: 10.1093/hmg/ddac098. Hum Mol Genet. 2022. PMID: 35512351 Free PMC article.
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS. El-Hattab AW, et al. J Inherit Metab Dis. 2016 May;39(3):373-381. doi: 10.1007/s10545-016-9921-5. Epub 2016 Mar 10. J Inherit Metab Dis. 2016. PMID: 26960553
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. El-Hattab AW, et al. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2018 Jan;137(1):105-109. doi: 10.1007/s00439-017-1859-7. Hum Genet. 2018. PMID: 29288388
125 results