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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 2
2011 2
2012 2
2013 2
2014 2
2015 6
2016 2
2017 2
2018 2
2019 2
2020 6
2021 5
2022 4
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33 results
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Page 1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: shahzad m. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, Rao AR, Abbasi AA, Shaikh RS, Waryah AM, Riazuddin S, Ahmed ZM. Sajid Z, et al. Among authors: shahzad m. Genes (Basel). 2021 Mar 28;12(4):492. doi: 10.3390/genes12040492. Genes (Basel). 2021. PMID: 33800529 Free PMC article.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: shahzad m. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500
Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: shahzad m. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
Towards Automatic License Plate Detection.
Mahmood Z, Khan K, Khan U, Adil SH, Ali SSA, Shahzad M. Mahmood Z, et al. Among authors: shahzad m. Sensors (Basel). 2022 Feb 7;22(3):1245. doi: 10.3390/s22031245. Sensors (Basel). 2022. PMID: 35161988 Free PMC article.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. Scala M, et al. Among authors: shahzad m. Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070. Brain. 2020. PMID: 32227164 Free PMC article. No abstract available.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. Ali M, et al. Among authors: shahzad m. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: shahzad m. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
33 results