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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: sultan t. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. Zaki MS, et al. Among authors: sultan t. Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1. Ann Neurol. 2016. PMID: 27130255 Free PMC article.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. Johansen A, et al. Among authors: sultan t. Am J Hum Genet. 2016 Oct 6;99(4):912-916. doi: 10.1016/j.ajhg.2016.07.019. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616480 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. Among authors: sultan t. 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.
170 results