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304 related items for PubMed ID: 30167849

  • 1. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
    Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM.
    Hum Genet; 2018 Sep; 137(9):735-752. PubMed ID: 30167849
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  • 2. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H.
    BMC Med Genet; 2020 Mar 24; 21(1):59. PubMed ID: 32209057
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  • 4. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
    Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.
    Mol Psychiatry; 2018 Apr 24; 23(4):973-984. PubMed ID: 28397838
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  • 5. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.
    JAMA Psychiatry; 2017 Mar 01; 74(3):293-299. PubMed ID: 28097321
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  • 6. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
    Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ, UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S.
    Mol Psychiatry; 2017 Nov 01; 22(11):1604-1614. PubMed ID: 27457812
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  • 13. Effect of inbreeding on intellectual disability revisited by trio sequencing.
    Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.
    Clin Genet; 2019 Jan 01; 95(1):151-159. PubMed ID: 30315573
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  • 16. The PTRHD1 Mutation in Intellectual Disability.
    Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R.
    Arch Iran Med; 2021 Oct 01; 24(10):747-751. PubMed ID: 34816696
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  • 18. Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
    Nazmina G, Khan A, Jiang J, Miao Z, Khan SN, Khan MI, Shah AH, Shah AH, Khisroon M, Haack TB.
    Clin Genet; 2024 Apr 01; 105(4):423-429. PubMed ID: 38088234
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  • 20. Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
    Rasool IG, Zahoor MY, Ahmed I, Iqbal M, Shafqat S, Anjum AA, Shehzad W.
    Genes Genomics; 2023 Apr 01; 45(4):457-465. PubMed ID: 35150401
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