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

Year Number of Results
1980 1
1996 3
1997 1
2000 2
2001 4
2002 2
2003 1
2004 2
2005 3
2006 3
2007 2
2008 4
2009 8
2010 8
2011 8
2012 7
2013 7
2014 4
2015 8
2016 5
2017 1
2019 5
2020 5
2021 3
2022 1
2024 2

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87 results

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Page 1
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: fellmann f. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
Bibert S, Quinodoz M, Perriot S, Krebs FS, Jan M, Malta RC, Collinet E, Canales M, Mathias A, Faignart N, Roulet-Perez E, Meylan P, Brouillet R, Opota O, Lozano-Calderon L, Fellmann F, Guex N, Zoete V, Asner S, Rivolta C, Du Pasquier R, Bochud PY. Bibert S, et al. Among authors: fellmann f. Nat Commun. 2024 May 10;15(1):3969. doi: 10.1038/s41467-024-48287-0. Nat Commun. 2024. PMID: 38730242 Free PMC article.
[Rare vascular diseases].
Calanca L, Depairon M, Tribout B, Aebischer N, Burnier M, Fellmann F, Lazor R, Mazzolai L. Calanca L, et al. Among authors: fellmann f. Rev Med Suisse. 2014 Feb 5;10(416):347-50, 352. Rev Med Suisse. 2014. PMID: 24624629 French.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
[Multidisciplinary cardiogenetic counselling].
Fellmann F, Jeanrenaud X, Sekarski N, Michaud K, Hersch D, Fodstad H, Bhuiyan ZA, Schläpfer J. Fellmann F, et al. Rev Med Suisse. 2017 May 24;13(564):1094-1099. Rev Med Suisse. 2017. PMID: 28639772 French.
Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
Bibert S, Piret J, Quinodoz M, Collinet E, Zoete V, Michielin O, Menasria R, Meylan P, Bihl T, Erard V, Fellmann F, Rivolta C, Boivin G, Bochud PY. Bibert S, et al. Among authors: fellmann f. PLoS Pathog. 2019 Dec 23;15(12):e1008168. doi: 10.1371/journal.ppat.1008168. eCollection 2019 Dec. PLoS Pathog. 2019. PMID: 31869396 Free PMC article.
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F; European Society of Human Genetics. de Wert G, et al. Among authors: fellmann f. Eur J Hum Genet. 2021 Mar;29(3):365-377. doi: 10.1038/s41431-020-00758-w. Epub 2020 Nov 22. Eur J Hum Genet. 2021. PMID: 33223530 Free PMC article.
87 results