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Year Number of Results
1994 2
1996 1
1999 1
2001 1
2003 5
2004 4
2005 8
2006 8
2007 9
2008 13
2009 19
2010 11
2011 13
2012 13
2013 13
2014 11
2015 21
2016 22
2017 19
2018 17
2019 18
2020 27
2021 33
2022 26
2023 17
2024 17

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296 results

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Page 1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: kara b. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: kara b. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: kara b. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Unclear Issues Regarding COVID-19.
Yuksel A, Karadogan D, Gurkan CG, Akyil FT, Toreyin ZN, Marim F, Arikan H, Eyuboglu TS, Emiralioglu N, Serifoglu I, Develi E, Celik S, Sertcelik UO, Gursoy TR, Elversli MF, Oncel A, Er B, Firincioglulari A, Gunaydin FE, Ozakinci H, Ozcelik N, Esendagli D, Aydin A, Kose N, Ercelik M, Gulhan PY, Yildiz E, Irmak I, Kara BY, Gurz S, Karakas FG, Akgun M. Yuksel A, et al. Among authors: kara by. Eurasian J Med. 2020 Jun;52(2):191-196. doi: 10.5152/eurasianjmed.2020.20092. Eurasian J Med. 2020. PMID: 32612430 Free PMC article. Review.
Picturing asthma in Turkey: results from the Turkish adult asthma registry.
Celik GE, Aydin O, Gokmen D, Koycu Buhari G, Celebi Sozener Z, Gemicioglu B, Bulut I, Beyaz S, Orcen C, Ozdemir SK, Keren M, Damadoglu E, Yakut T, Kalpaklioglu AF, Baccioglu A, Yalim SA, Yilmaz I, Koca Kalkan I, Uysal MA, Ozgun Niksarlioglu EY, Kalyoncu AF, Karakaya G, Erbay M, Nayci S, Tepetam FM, Gelincik AA, Dirol H, Goksel O, Karaoglanoglu S, Oner Erkekol F, Isik SR, Yildiz F, Yavuz Y, Karadogan D, Bozkurt N, Seker U, Oguzulgen IK, Basyigit I, Baris SA, Yilmazel Ucar E, Erdogan T, Polatli M, Ediger D, Gunaydin FE, Turk M, Pur L, Katran ZY, Sekibag Y, Aykac EF, Mungan D, Gul O, Cengiz A, Akkurt B, Ozden S, Demir S, Unal D, Aslan AF, Can A, Gumusburun R, Bogatekin G, Akten HS, Inan S, Erdinc M, Ogus AC, Kavas M, Polat Yulug D, Cakmak ME, Kaya SB, Alpagat G, Ozgur ES, Uzun O, Tas Gulen S, Pekbak G, Kizilirmak D, Havlucu Y, Donmez H, Arslan B, Cetin GP, Soyyigit S, Kara BY, Pasaoglu Karakis G, Dursun AB, Kendirlinan R, Ozturk AB, Sevinc C, Omeroglu Simsek G, Abadoglu O, Cerci P, Yucel T, Yorulmaz I, Tezcaner ZC, Tatar EC, Suslu AE, Ozer S, Dursun E, Yorgancioglu A. Celik GE, et al. Among authors: kara by. J Asthma. 2023 Nov;60(11):1973-1986. doi: 10.1080/02770903.2023.2206902. Epub 2023 May 31. J Asthma. 2023. PMID: 37096963
296 results