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

Year Number of Results
1993 1
1994 1
1995 1
1996 1
1998 1
1999 1
2000 2
2001 1
2007 3
2008 3
2009 5
2010 7
2011 4
2012 5
2013 5
2014 9
2015 10
2016 18
2017 28
2018 49
2019 34
2020 45
2021 38
2022 60
2023 63
2024 34

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364 results

Results by year

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Page 1
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: zafar f. 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.
Donor considerations in pediatric heart transplantation.
Singh N, Raees MA, Zafar F. Singh N, et al. Among authors: zafar f. Transl Pediatr. 2019 Oct;8(4):284-289. doi: 10.21037/tp.2019.08.02. Transl Pediatr. 2019. PMID: 31728321 Free PMC article. Review.
Cardiac Involvement in Monkeypox Outbreak.
Manan MR, Nawaz I, Zafar F, Manan H, Nawaz Y. Manan MR, et al. Among authors: zafar f. Discoveries (Craiova). 2023 Sep 18;11(3):e171. doi: 10.15190/d.2023.10. eCollection 2023 Jul-Sep. Discoveries (Craiova). 2023. PMID: 37753488 Free PMC article. Review.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Pediatric ventricular assist devices.
Adachi I, Burki S, Zafar F, Morales DL. Adachi I, et al. Among authors: zafar f. J Thorac Dis. 2015 Dec;7(12):2194-202. doi: 10.3978/j.issn.2072-1439.2015.12.61. J Thorac Dis. 2015. PMID: 26793341 Free PMC article. Review.
Sutureless circumcision.
Zafar F, Thompson JN, Pati J, Kiely EA, Abel PD. Zafar F, et al. Br J Surg. 1993 Jul;80(7):859. doi: 10.1002/bjs.1800800715. Br J Surg. 1993. PMID: 8369915 No abstract available.
Lung Transplantation for Bronchopulmonary Dysplasia.
Dani A, Hayes D Jr, Guzman-Gomez A, Hossain MM, Woods JC, Morales DLS, Hirsch R, Zafar F, Hysinger EB. Dani A, et al. Among authors: zafar f. Chest. 2023 May;163(5):1166-1175. doi: 10.1016/j.chest.2022.12.032. Epub 2023 Jan 4. Chest. 2023. PMID: 36610665 Free PMC article.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: zafar f. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
364 results