Khan MI - Search Results

1

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.

Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J. Jelani M, et al. Among authors: khan a, khan mtm, khan mi. Brain. 2019 May 1;142(5):1242-1254. doi: 10.1093/brain/awz075. Brain. 2019. PMID: 30968111 Free PMC article.

2

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.

Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C. Khan MI, et al. Genes Genomics. 2018 Jul;40(7):789-795. doi: 10.1007/s13258-018-0695-z. Epub 2018 May 2. Genes Genomics. 2018. PMID: 29934816

3

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

Khan MI, Latif M, Saif M, Ahmad H, Khan AU, Naseer MI, Hussain HMJ, Jelani M. Khan MI, et al. Among authors: khan au. J Gene Med. 2021 Jan;23(1):e3279. doi: 10.1002/jgm.3279. Epub 2020 Oct 27. J Gene Med. 2021. PMID: 32989887

4

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: khan mtm, khan mi. Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z. Sci Rep. 2021. PMID: 34848785 Free PMC article.

5

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Khan AU, Khan I, Khan MI, Latif M, Siddiqui MI, Khan SU, Htar TT, Wahid G, Ullah I, Bibi F, Khan A, Naseer MI, Seo GH, Jelani M. Khan AU, et al. Among authors: khan su, khan a, khan i, khan mi. Am J Med Genet A. 2022 Sep;188(9):2693-2700. doi: 10.1002/ajmg.a.62856. Epub 2022 Jun 15. Am J Med Genet A. 2022. PMID: 35703069

6

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Zaman Q, Khan J, Ahmad M, Khan H, Chaudhary HT, Rehman G, Rahman OU, Shah MM, Hussain J, Jamal Q, Khan BT, Khan MA, Sadeeda, Sahar K, Idrees M, Ahmad R, Faisal MS, Khan MI, Khisroon M, Abdulkareem AA, Lee E, Ryu SW, Bibi N, Muthaffar OY, Jelani M, Naseer MI. Zaman Q, et al. Among authors: khan bt, khan ma, khan j, khan mi, khan h. Gene. 2024 Feb 5;894:147986. doi: 10.1016/j.gene.2023.147986. Epub 2023 Nov 11. Gene. 2024. PMID: 37956964

7

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X. Khan A, et al. Among authors: khan mi. BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7. BMC Med Genet. 2019. PMID: 31664938 Free PMC article.

8

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.

Khan A, Umair M, Sharaf RA, Khan MI, Ullah A, Abbas S, Shaheen N, Bilal M, Ahamd F. Khan A, et al. Among authors: khan mi. Hum Genome Var. 2020 Nov 27;7(1):41. doi: 10.1038/s41439-020-00129-3. Hum Genome Var. 2020. PMID: 33298898 Free PMC article.

9

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadheland M, Zhang X. Khan A, et al. Among authors: khan mi. BMC Med Genet. 2019 Dec 12;20(1):195. doi: 10.1186/s12881-019-0929-1. BMC Med Genet. 2019. PMID: 31830914 Free PMC article.

10

Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.

Nazmina G, Khan A, Jiang J, Miao Z, Khan SN, Khan MI, Shah AH, Shah AH, Khisroon M, Haack TB. Nazmina G, et al. Among authors: khan a, khan sn, khan mi. Clin Genet. 2024 Apr;105(4):423-429. doi: 10.1111/cge.14469. Epub 2023 Dec 13. Clin Genet. 2024. PMID: 38088234

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,510 results

Search Page