Nawaz Z - Search Results

1

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. Yavarna T, et al. Among authors: nawaz z. Hum Genet. 2015 Sep;134(9):967-80. doi: 10.1007/s00439-015-1575-0. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077850

2

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. Among authors: nawaz z. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735

3

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, Lepage P, Ali R, Hashim L, Schwartzentruber J, Abu Khadija K, Zaineddin S, Gamal H, Majewski J, Ben-Omran T. Fahiminiya S, et al. Among authors: nawaz z. Clin Genet. 2014 Aug;86(2):134-41. doi: 10.1111/cge.12280. Epub 2013 Oct 13. Clin Genet. 2014. PMID: 24102521

4

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M. Almuriekhi M, et al. Among authors: nawaz z. Cell Rep. 2015 Mar 10;10(9):1585-1598. doi: 10.1016/j.celrep.2015.02.011. Epub 2015 Mar 5. Cell Rep. 2015. PMID: 25753423 Free article.

5

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z. Khan MA, et al. Among authors: nawaz z. J Genet. 2017 Jun;96(2):383-387. doi: 10.1007/s12041-017-0759-x. J Genet. 2017. PMID: 28674240

6

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.

Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM. Khan MA, et al. Among authors: nawaz z. Ann Hum Genet. 2016 Nov;80(6):342-368. doi: 10.1111/ahg.12176. Ann Hum Genet. 2016. PMID: 27870114 Review.

7

Outcome associated with EPCAM founder mutation c.499dup in Qatar.

Hassan K, Sher G, Hamid E, Hazima KA, Abdelrahman H, Al Mudahka F, Al-Masri W, Sankar J, Daryaee M, Shawish R, Khan MA, Nawaz Z. Hassan K, et al. Among authors: nawaz z. Eur J Med Genet. 2020 Oct;63(10):104023. doi: 10.1016/j.ejmg.2020.104023. Epub 2020 Jul 28. Eur J Med Genet. 2020. PMID: 32735948

8

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.

Mohammed I, Al-Khawaga S, Bohanna D, Shabani A, Khan F, Love DR, Nawaz Z, Hussain K. Mohammed I, et al. Among authors: nawaz z. Mol Genet Genomic Med. 2020 Jun;8(6):e1086. doi: 10.1002/mgg3.1086. Epub 2020 Apr 11. Mol Genet Genomic Med. 2020. PMID: 32277595 Free PMC article.

9

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Faiyaz-Ul-Haque M, Jamil M, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. Among authors: nawaz z. Cancer Genet. 2020 May;243:1-6. doi: 10.1016/j.cancergen.2020.02.006. Epub 2020 Mar 6. Cancer Genet. 2020. PMID: 32179488

10

Acute Myeloid Leukemia in Qatar (2010-2016): Clinical, Biological, and Prognostic Factors and Treatment Outcomes.

El Omri H, Taha RY, Elomri A, Kacem N, Elsabah H, Ellahie AY, Gamil A, Ibrahim F, Soliman DSA, El Akiki SJL, Nawaz Z, Al Sabbagh A, El Omri A. El Omri H, et al. Among authors: nawaz z. Front Genet. 2020 Jun 17;11:553. doi: 10.3389/fgene.2020.00553. eCollection 2020. Front Genet. 2020. PMID: 32625233 Free PMC article.

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