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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. Among authors: hertecant j. 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. Among authors: hertecant j. 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
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS. Al Mutairi F, et al. Among authors: hertecant j. Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5. Pediatr Neurol. 2018. PMID: 29239743
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. Among authors: hertecant j. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Among authors: hertecant j. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Marafi D, et al. Among authors: hertecant j. Ann Clin Transl Neurol. 2020 May;7(5):610-627. doi: 10.1002/acn3.51003. Epub 2020 Apr 14. Ann Clin Transl Neurol. 2020. PMID: 32286009 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: hertecant j. 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.
84 results