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

Year Number of Results
1988 1
1994 1
2002 1
2004 1
2005 4
2006 2
2007 2
2008 4
2009 5
2010 7
2011 5
2012 12
2013 9
2014 3
2015 6
2016 5
2017 2
2018 12
2019 6
2020 2
2021 8
2022 5
2023 4
2024 2

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95 results

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Page 1
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: forzano f. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
A genomic perspective on climate change.
Forzano F, Babb de Villiers C, Farley M, Fowler H, Taylor RW. Forzano F, et al. EBioMedicine. 2023 Dec;98:104871. doi: 10.1016/j.ebiom.2023.104871. Epub 2023 Nov 7. EBioMedicine. 2023. PMID: 37944272 Free PMC article. No abstract available.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: forzano f. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Nablus syndrome: Easy to diagnose yet difficult to solve.
Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Allanson J, et al. Among authors: forzano f. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580486 Review.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Among authors: forzano f. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.
Reply to Bombard and Mighton.
Carrieri D, Howard HC, Clarke AJ, Stefansdottir V, Cornel MC, van El CG, Forzano F. Carrieri D, et al. Among authors: forzano f. Eur J Hum Genet. 2019 Apr;27(4):507-508. doi: 10.1038/s41431-018-0315-z. Epub 2019 Jan 18. Eur J Hum Genet. 2019. PMID: 30659262 Free PMC article. No abstract available.
Responsible implementation of expanded carrier screening.
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B. Henneman L, et al. Among authors: forzano f. Eur J Hum Genet. 2017 Nov;25(11):1291. doi: 10.1038/ejhg.2017.159. Eur J Hum Genet. 2017. PMID: 29023436 Free PMC article.
Responsible implementation of expanded carrier screening.
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B. Henneman L, et al. Among authors: forzano f. Eur J Hum Genet. 2016 Jun;24(6):e1-e12. doi: 10.1038/ejhg.2015.271. Epub 2016 Mar 16. Eur J Hum Genet. 2016. PMID: 26980105 Free PMC article.
95 results