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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Carvalho CM, et al. Among authors: patel gs. Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439725 Free PMC article.
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW. El-Hattab AW, et al. Among authors: patel gs, patel a. J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8. J Med Genet. 2011. PMID: 21984752 Free article.
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Celestino-Soper PB, Skinner C, Schroer R, Eng P, Shenai J, Nowaczyk MM, Terespolsky D, Cushing D, Patel GS, Immken L, Willis A, Wiszniewska J, Matalon R, Rosenfeld JA, Stevenson RE, Kang SH, Cheung SW, Beaudet AL, Stankiewicz P. Celestino-Soper PB, et al. Among authors: patel gs. Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17. Mol Cytogenet. 2012. PMID: 22480366 Free PMC article.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Berryer MH, et al. Among authors: patel gs. Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12. Hum Mutat. 2013. PMID: 23161826
Persistent Pulmonary Hypertension: A Look Into the Future Therapy.
Soni M, Joshi PK, Patel SC, Shreya D, Zamora DI, Patel GS, Grossmann I, Rodriguez K, Sange I. Soni M, et al. Among authors: patel gs. Cureus. 2021 Dec 13;13(12):e20377. doi: 10.7759/cureus.20377. eCollection 2021 Dec. Cureus. 2021. PMID: 35036210 Free PMC article. Review.
Anterior Cruciate Ligament Injury: Conservative Versus Surgical Treatment.
Rodriguez K, Soni M, Joshi PK, Patel SC, Shreya D, Zamora DI, Patel GS, Grossmann I, Sange I. Rodriguez K, et al. Among authors: patel gs. Cureus. 2021 Dec 6;13(12):e20206. doi: 10.7759/cureus.20206. eCollection 2021 Dec. Cureus. 2021. PMID: 35004026 Free PMC article. Review.
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