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Page 1
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C. Matricardi S, et al. Among authors: musante l. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16. Epilepsia. 2020. PMID: 33063863 Review.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: musante l. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Orsini A, et al. Among authors: musante l. Genes (Basel). 2022 Jan 30;13(2):276. doi: 10.3390/genes13020276. Genes (Basel). 2022. PMID: 35205321 Free PMC article.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: musante l. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Neumann TE, et al. Among authors: musante l. Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854871 Free PMC article.
153 results