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

Year Number of Results
2002 2
2003 2
2004 1
2005 3
2006 3
2008 5
2009 6
2010 4
2011 3
2012 3
2013 3
2014 3
2015 3
2016 3
2017 13
2018 10
2019 13
2020 11
2021 8
2022 5
2024 0

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85 results

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Page 1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: alikasifoglu m. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: alikasifoglu m. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. Guleray N, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2019 Nov;62(11):103585. doi: 10.1016/j.ejmg.2018.11.019. Epub 2018 Nov 27. Eur J Med Genet. 2019. PMID: 30496831
Reduced irisin levels in patients with acromegaly.
Sendur SN, Baykal G, Firlatan B, Aydin B, Lay I, Dagdelen S, Alikasifoglu M, Erbas T. Sendur SN, et al. Among authors: alikasifoglu m. Horm Mol Biol Clin Investig. 2022 Jul 19;43(3):251-261. doi: 10.1515/hmbci-2022-0009. eCollection 2022 Sep 1. Horm Mol Biol Clin Investig. 2022. PMID: 35851444
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. Among authors: alikasifoglu m. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
HERC1 mutations in idiopathic intellectual disability.
Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: alikasifoglu m. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S. Batu ED, et al. Among authors: alikasifoglu m. J Rheumatol. 2018 Dec;45(12):1671-1679. doi: 10.3899/jrheum.171358. Epub 2018 Jul 15. J Rheumatol. 2018. PMID: 30008451
85 results