Shahid Khan

Research Associate

20052020

Research output per year

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Research Output

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Article
2020

Mutations in FYCO1 identified in families with congenital cataracts

Iqbal, H., Khan, S. Y., Zhou, L., Irum, B., Ali, M., Ahmed, M. R., Shahzad, M., Ali, M. H., Naeem, M. A., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Jan 1 2020, In : Molecular vision. 26, p. 334-344 11 p.

Research output: Contribution to journalArticle

Novel mutations in ltbp2 identified in familial cases of primary congenital glaucoma

Rauf, B., Irum, B., Khan, S. Y., Kabir, F., Naeem, M. A., Riazuddin, S., Ayyagari, R. & Amer Riazuddin, S., Feb 2020, In : Molecular vision. 26, p. 14-25 12 p.

Research output: Contribution to journalArticle

2019

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

Jiao, X., Khan, S. Y., Kaul, H., Butt, T., Naeem, M. A., Riazuddin, S., Fielding Hejtmancik, J. & Amer Riazuddin, S., Jan 1 2019, In : PloS one. 14, 12, e0225010.

Research output: Contribution to journalArticle

Open Access

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

Ali, M., Kabir, F., Thomson, J. J., Ma, Y., Qiu, C., Delannoy, M., Khan, S. Y. & Riazuddin, S. A., Dec 1 2019, In : Scientific reports. 9, 1, 18552.

Research output: Contribution to journalArticle

Open Access
2018

Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

Ali, M., Khan, S. Y., Kabir, F., Gottsch, J. D. & Riazuddin, S. A., Nov 2018, In : Experimental eye research. 176, p. 252-257 6 p.

Research output: Contribution to journalArticle

Data descriptor: Whole genome sequencing data for two individuals of Pakistani descent

Khan, S., Kabir, F., M’Hamdi, O., Jiao, X., Naeem, M. A., Khan, S. N., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Sep 11 2018, In : Scientific data. 5, 180174.

Research output: Contribution to journalArticle

Generation and proteome profiling of PBMC-originated, iPSC-derived corneal endothelial cells

Ali, M., Khan, S. Y., Vasanth, S., Ahmed, M. R., Chen, R., Na, C. H., Thomson, J. J., Qiu, C., Gottsch, J. D. & Riazuddin, S. A., May 2018, In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2437-2444 8 p.

Research output: Contribution to journalArticle

Identification of novel transcripts and peptides in developing murine lens

Khan, S. Y., Ali, M., Kabir, F., Chen, R., Na, C. H., Lee, M. C. W., Pourmand, N., Hackett, S. F. & Riazuddin, S. A., Dec 1 2018, In : Scientific reports. 8, 1, 11162.

Research output: Contribution to journalArticle

Proteome profiling of developing murine lens through mass spectrometry

Khan, S. Y., Ali, M., Kabir, F., Renuse, S., Na, C. H., Conover Talbot, C., Hackett, S. F. & Amer Riazuddin, S., Jan 2018, In : Investigative Ophthalmology and Visual Science. 59, 1, p. 100-107 8 p.

Research output: Contribution to journalArticle

2016

Deletion at the GCNT2 locus causes autosomal recessive congenital cataracts

Irum, B., Khan, S. Y., Ali, M., Daud, M., Kabir, F., Rauf, B., Fatima, F., Iqbal, H., Khan, A. O., Obaisi, S. A., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. O. & Riazuddin, S. A., Dec 2016, In : PloS one. 11, 12, e0167562.

Research output: Contribution to journalArticle

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Khan, S., Vasanth, S., Kabir, F., Gottsch, J. D., Khan, A. O., Chaerkady, R., Lee, M. C. W., Leitch, C. C., Ma, Z., Laux, J., Villasmil, R., Khan, S. N., Riazuddin, S., Akram, J., Cole, R. N., Conover Talbot, C., Pourmand, N., Zaghloul, N. A., Fielding Hejtmancik, J. & Riazuddin, S. A., Apr 6 2016, In : Nature Communications. 7, 10953.

Research output: Contribution to journalArticle

Mutation in LIM2 is responsible for autosomal recessive congenital cataracts

Irum, B., Khan, S. Y., Ali, M., Kaul, H., Kabir, F., Rauf, B., Fatima, F., Nadeem, R., Khan, A. O., Al Obaisi, S., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. O. & Riazuddin, S. A., Nov 2016, In : PloS one. 11, 11, e0162620.

Research output: Contribution to journalArticle

Non-coding RNA profiling of the developing murine lens

Khan, S. Y., Hackett, S. F. & Riazuddin, S. A., Apr 1 2016, In : Experimental eye research. 145, p. 347-351 5 p.

Research output: Contribution to journalArticle

2015

Missense mutations in CRYAB are liable for recessive congenital cataracts

Jiaox, X., Khan, S. Y., Irum, B., Khan, A. O., Wang, Q., Kabir, F., Khan, A. A., Husnain, T., Akram, J., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Sep 24 2015, In : PloS one. 10, 9, e0137973.

Research output: Contribution to journalArticle

Phenotypic variability associated with the D226N allele of IMPDH1

Ali, S., Khan, S. Y., Naeem, M. A., Khan, S. N., Husnain, T., Riazuddin, S., Ayyagari, R., Riazuddin, S., Hejtmancik, J. F. & Amer Riazuddin, S., Feb 1 2015, In : Ophthalmology. 122, 2, p. 429-431 3 p.

Research output: Contribution to journalArticle

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous pakistani families

Khan, S. Y., Ali, S., Naeem, M. A., Khan, S. N., Husnain, T., Butt, N. H., Qazi, Z. A., Akram, J., Riazuddin, S., Ayyagari, R., Hejtmancik, J. F. & Riazuddin, S. A., Aug 18 2015, In : Molecular vision. 21, p. 871-882 12 p.

Research output: Contribution to journalArticle

Transcriptome profiling of developing murine lens through RNA sequencing

Khan, S. Y., Hackett, S. F., Lee, M. C. W., Pourmand, N., Conover Talbot, C. & Amer Riazuddin, S., Jan 1 2015, In : Investigative Ophthalmology and Visual Science. 56, 8, p. 4919-4926 8 p.

Research output: Contribution to journalArticle

2014

Single-cell analyses of transcriptional heterogeneity during drug tolerance transition in cancer cells by RNA sequencing

Lee, M. C. W., Lopez-Diaz, F. J., Khan, S. Y., Tariq, M. A., Dayn, Y., Vaske, C. J., Radenbaugh, A. J., Kim, H. J., Emerson, B. M. & Pourm, N., Nov 4 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 44, p. E4726-E4735

Research output: Contribution to journalArticle

Open Access
2013

Distinctive microRNA expression signatures in proton-irradiated mice

Khan, S. Y., Tariq, M. A., Perrott, J. P., Brumbaugh, C. D., Kim, H. J., Shabbir, M. I., Ramesh, G. T. & Pourmand, N., Oct 1 2013, In : Molecular and Cellular Biochemistry. 382, 1-2, p. 225-235 11 p.

Research output: Contribution to journalArticle

2010

DFNB79: Reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Khan, S. Y., Riazuddin, S., Shahzad, M., Ahmed, N., Zafar, A. U., Rehman, A. U., Morell, R. J., Griffith, A. J., Ahmed, Z. M., Riazuddin, S. & Friedman, T. B., Jan 1 2010, In : European Journal of Human Genetics. 18, 1, p. 125-129 5 p.

Research output: Contribution to journalArticle

Open Access

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Rehman, A. U., Morell, R. J., Belyantseva, I. A., Khan, S. Y., Boger, E. T., Shahzad, M., Ahmed, Z. M., Riazuddin, S., Khan, S. N., Riazuddin, S. & Friedman, T. B., Feb 19 2010, In : American journal of human genetics. 86, 3, p. 378-388 11 p.

Research output: Contribution to journalArticle

Open Access
2009

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

Waryah, A. M., Rehman, A., Ahmed, Z. M., Bashir, Z. H., Khan, S. Y., Zafar, A. U., Riazuddin, S., Friedman, T. B. & Riazuddin, S., Sep 1 2009, In : Clinical Genetics. 76, 3, p. 270-275 6 p.

Research output: Contribution to journalArticle

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

Riazuddin, S., Anwar, S., Fischer, M., Ahmed, Z. M., Khan, S. Y., Janssen, A. G. H., Zafar, A. U., Scholl, U., Husnain, T., Belyantseva, I. A., Friedman, P. L., Riazuddin, S., Friedman, T. B. & Fahlke, C., Aug 14 2009, In : American journal of human genetics. 85, 2, p. 273-280 8 p.

Research output: Contribution to journalArticle

Open Access

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Riazuddin, S., Anwar, S., Riazuddin, S., Ahmed, Z. M., Tasneem, S., Ateeq-Ul-Jaleel, Khan, S. Y., Griffith, A. J. & Friedman, T. B., May 1 2009, In : Journal of Human Genetics. 54, 5, p. 266-270 5 p.

Research output: Contribution to journalArticle

Open Access
2008

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Ahmed, Z. M., Masmoudi, S., Kalay, E., Belyantseva, I. A., Mosrati, M. A., Collin, R. W. J., Riazuddin, S., Hmani-Aifa, M., Venselaar, H., Kawar, M. N., Tlili, A., van der Zwaag, B., Khan, S., Ayadi, L., Riazuddin, S. A., Morell, R. J., Griffith, A. J., Charfedine, I., Ҫaylan, R., Oostrik, J. & 6 others, Karaguzel, A., Ghorbel, A., Riazuddin, S., Friedman, T. B., Ayadi, H. & Kremer, H., 2008, In : Nature Genetics. 40, 11, p. 1335-1340 6 p.

Research output: Contribution to journalArticle

2007

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3

Khan, S. Y., Riazuddin, S., Tariq, M., Anwar, S., Shabbir, M. I., Riazuddin, S. A., Khan, S. N., Husnain, T., Ahmed, Z. M., Friedman, T. B. & Riazuddin, S., Jan 1 2007, In : Human genetics. 120, 6, p. 789-793 5 p.

Research output: Contribution to journalArticle

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

Khan, S. Y., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S. I., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B. & Riazuddin, S., May 1 2007, In : Human mutation. 28, 5, p. 417-423 7 p.

Research output: Contribution to journalArticle

2006

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B. & Riazuddin, S., Aug 1 2006, In : Journal of medical genetics. 43, 8, p. 634-640 7 p.

Research output: Contribution to journalArticle

2005

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1

Ahmad, J., Khan, S. N., Khan, S. Y., Ramzan, K., Riazuddin, S., Ahmed, Z. M., Wilcox, E. R., Friedman, T. B. & Riazuddin, S., Apr 1 2005, In : Human genetics. 116, 5, p. 407-412 6 p.

Research output: Contribution to journalArticle