Harripaul R - Search Results

1

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

2

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

3

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.

Harripaul R, Noor A, Ayub M, Vincent JB. Harripaul R, et al. Cold Spring Harb Perspect Med. 2017 Mar 1;7(3):a026864. doi: 10.1101/cshperspect.a026864. Cold Spring Harb Perspect Med. 2017. PMID: 28250017 Free PMC article. Review.

4

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Sheikh TI, Harripaul R, Ayub M, Vincent JB. Sheikh TI, et al. Among authors: harripaul r. Hum Mutat. 2018 May;39(5):717-728. doi: 10.1002/humu.23409. Epub 2018 Mar 8. Hum Mutat. 2018. PMID: 29431277

5

Exome sequencing identifies novel and known mutations in families with intellectual disability.

Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M. Rasheed M, et al. Among authors: harripaul r. BMC Med Genomics. 2021 Aug 27;14(1):211. doi: 10.1186/s12920-021-01066-y. BMC Med Genomics. 2021. PMID: 34452636 Free PMC article.

6

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

7

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. Johansen A, et al. Among authors: harripaul r. Am J Hum Genet. 2016 Oct 6;99(4):912-916. doi: 10.1016/j.ajhg.2016.07.019. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616480 Free PMC article.

8

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.

9

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

10

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

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