Ishaq R - Search Results

1

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

Zafar S, Shahzad M, Ishaq R, Yousaf A, Shaikh RS, Akram J, Ahmed ZM, Riazuddin S. Zafar S, et al. Among authors: ishaq r. Genes (Basel). 2020 Aug 22;11(9):978. doi: 10.3390/genes11090978. Genes (Basel). 2020. PMID: 32842620 Free PMC article.

2

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.

Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S. Noman M, et al. Among authors: ishaq r. Genes (Basel). 2019 Dec 10;10(12):1031. doi: 10.3390/genes10121031. Genes (Basel). 2019. PMID: 31835641 Free PMC article.

3

Multi-omic studies on missense PLG variants in families with otitis media.

Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG); Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Bootpetch TC, et al. Among authors: ishaq r. Sci Rep. 2020 Sep 14;10(1):15035. doi: 10.1038/s41598-020-70498-w. Sci Rep. 2020. PMID: 32929111 Free PMC article.

4

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

Rashid M, Qasim M, Ishaq R, Bukhari SA, Sajid Z, Ashfaq UA, Haque A, Ahmed ZM. Rashid M, et al. Among authors: ishaq r. PLoS One. 2020 Sep 25;15(9):e0239748. doi: 10.1371/journal.pone.0239748. eCollection 2020. PLoS One. 2020. PMID: 32976546 Free PMC article.

5

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Ishaq R, Ilyas M, Habiba U, Amin MNU, Saeed S, Raja GK, Shaiq PA, Ahmed ZM. Ishaq R, et al. Genes (Basel). 2023 May 22;14(5):1118. doi: 10.3390/genes14051118. Genes (Basel). 2023. PMID: 37239478 Free PMC article.

6

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.

Ilyas M, Holzwarth D, Ishaq R, Ali Y, Habiba U, Raja AM, Saeed S, Abdullah U, Khan SN, Ullah A, Raja GK, Baig SM, Fazeli W, Kunz WS, Shaiq PA. Ilyas M, et al. Among authors: ishaq r. Seizure. 2024 Mar;116:74-80. doi: 10.1016/j.seizure.2023.07.020. Epub 2023 Jul 27. Seizure. 2024. PMID: 37574425

7

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.

Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, Ali Y, Haider S, Efthymiou S, Abdullah U, Raja GK, Shaiq PA. Ilyas M, et al. Among authors: ishaq r. Epilepsy Res. 2024 Mar;201:107283. doi: 10.1016/j.eplepsyres.2023.107283. Epub 2023 Dec 17. Epilepsy Res. 2024. PMID: 38382230

8

Differential Treatment Responses in Pakistani Schizophrenia Samples: Correlation with Sociodemographic Parameters, Drug Addiction, Attitude to the Treatment and Antipsychotic Agents.

Habiba U, Malik A, Raja GK, Memon MR, Nizami ATD, Ishaq R, Ilyas M, Valadi H, Nawaz M, Shaiq PA. Habiba U, et al. Among authors: ishaq r. Brain Sci. 2023 Feb 26;13(3):407. doi: 10.3390/brainsci13030407. Brain Sci. 2023. PMID: 36979217 Free PMC article.

9

A Comprehensive Metabolomic and Microbial Analysis Following Dietary Amino Acid Reduction in Mice.

Al-Ishaq RK, Ferrara CR, Stephan N, Krumsiek J, Suhre K, Montrose DC. Al-Ishaq RK, et al. Metabolites. 2024 Dec 14;14(12):706. doi: 10.3390/metabo14120706. Metabolites. 2024. PMID: 39728487 Free PMC article.

10

Development of Verb Inflectional Complexity in Palestinian Arabic.

Henkin-Roitfarb R, Uziel S, Ishaq R. Henkin-Roitfarb R, et al. Among authors: ishaq r. J Speech Lang Hear Res. 2024 Dec 3:1-22. doi: 10.1044/2024_JSLHR-23-00722. Online ahead of print. J Speech Lang Hear Res. 2024. PMID: 39626083

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