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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes (Basel). 2021 May 13;12(5):731. doi: 10.3390/genes12050731.
Genes (Basel). 2021.
PMID: 34068194
Free PMC article.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.
Rasool S, et al. Among authors: waseem ss.
Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17.
Mol Genet Genomic Med. 2020.
PMID: 32677750
Free PMC article.
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P.
Waseem SS, et al.
Genes (Basel). 2021 Sep 24;12(10):1494. doi: 10.3390/genes12101494.
Genes (Basel). 2021.
PMID: 34680889
Free PMC article.
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Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
Ahmad I, et al. Among authors: waseem ss.
Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22.
Clin Genet. 2017.
PMID: 28004384
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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.
Szczepanski S, et al. Among authors: waseem ss.
Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30.
Hum Genet. 2016.
PMID: 26621532
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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.
Moawia A, et al. Among authors: waseem ss.
Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14.
Ann Neurol. 2017.
PMID: 28892560
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Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Zulfiqar S, Moawia A, Waseem SS, Ali Z, Ramzan S, Anjum I, Baig SM, Tariq M.
Zulfiqar S, et al. Among authors: waseem ss.
Int J Neurosci. 2024 Jun;134(1):28-33. doi: 10.1080/00207454.2022.2082967. Epub 2022 Jun 12.
Int J Neurosci. 2024.
PMID: 35645363
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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.
Braun DA, et al. Among authors: waseem ss.
J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
J Clin Invest. 2018.
PMID: 30179222
Free PMC article.
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