Harripaul R - Search Results

1

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.

Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. Gul H, et al. Among authors: harripaul r. J Genet. 2021;100:57. J Genet. 2021. PMID: 34470921 Free article.

2

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA. Gul H, et al. Among authors: harripaul r. Ann Hum Genet. 2019 Jul;83(4):278-284. doi: 10.1111/ahg.12307. Epub 2019 Mar 13. Ann Hum Genet. 2019. PMID: 30868578

3

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan.

Sawal HA, Harripaul R, Mikhailov A, Dad R, Ayub M, Jawad Hassan M, Vincent JB. Sawal HA, et al. Among authors: harripaul r. Clin Genet. 2016 Dec;90(6):563-565. doi: 10.1111/cge.12860. Epub 2016 Oct 17. Clin Genet. 2016. PMID: 27747863

4

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Pastore S, Harripaul R, Azam M, Vincent JB. Pastore S, et al. Among authors: harripaul r. J Hum Genet. 2020 May;65(5):493-496. doi: 10.1038/s10038-020-0734-x. Epub 2020 Mar 3. J Hum Genet. 2020. PMID: 32127623 Clinical Trial.

5

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mittal K, et al. Among authors: harripaul r. J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16. J Hum Genet. 2016. PMID: 27305979

6

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. Ouyang Q, et al. Among authors: harripaul r. Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30. Hum Genet. 2019. PMID: 31471722 Free PMC article.

7

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB. Pastore SF, et al. Among authors: harripaul r. Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z. Sci Rep. 2021. PMID: 34848785 Free PMC article.

8

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. Harripaul R, et al. Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11. Mol Psychiatry. 2018. PMID: 28397838

9

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families.

Sawal HA, Harripaul R, Mikhailov A, Vleuten K, Naeem F, Nasr T, Hassan MJ, Vincent JB, Ayub M, Rafiq MA. Sawal HA, et al. Among authors: harripaul r. J Pediatr Genet. 2018 Jun;7(2):60-66. doi: 10.1055/s-0037-1612591. Epub 2017 Dec 21. J Pediatr Genet. 2018. PMID: 29707406 Free PMC article.

10

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: harripaul r. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856

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