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

Year Number of Results
1958 1
1960 1
1962 1
1966 1
1967 4
1968 2
1973 1
1983 2
1986 4
1988 4
1989 2
1990 3
1991 1
1992 4
1993 2
1994 2
1995 4
1996 6
1997 5
1998 4
1999 5
2000 2
2001 5
2002 3
2003 5
2004 4
2005 4
2006 5
2007 4
2008 8
2009 11
2010 14
2011 9
2012 19
2013 18
2014 20
2015 11
2016 8
2017 17
2018 14
2019 10
2020 17
2021 29
2022 16
2023 15
2024 5

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307 results

Results by year

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Page 1
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Falzarano MS, Scotton C, Passarelli C, Ferlini A. Falzarano MS, et al. Among authors: ferlini a. Molecules. 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. Molecules. 2015. PMID: 26457695 Free PMC article. Review.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli BRR, Chaubey A, Valencia CA, Stansberry L, Behlmann AM, Ma Z, Mathur A, Shenoy S, Ganapathy V, Jagannathan L, Ramachander V, Ferlini A, Bean L, Hegde M. Nallamilli BRR, et al. Among authors: ferlini a. Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33644936
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: ferlini a. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
A current approach to heart failure in Duchenne muscular dystrophy.
D'Amario D, Amodeo A, Adorisio R, Tiziano FD, Leone AM, Perri G, Bruno P, Massetti M, Ferlini A, Pane M, Niccoli G, Porto I, D'Angelo GA, Borovac JA, Mercuri E, Crea F. D'Amario D, et al. Among authors: ferlini a. Heart. 2017 Nov;103(22):1770-1779. doi: 10.1136/heartjnl-2017-311269. Epub 2017 Jul 1. Heart. 2017. PMID: 28668906 Review.
POPDC2 a novel susceptibility gene for conduction disorders.
Rinné S, Ortiz-Bonnin B, Stallmeyer B, Kiper AK, Fortmüller L, Schindler RFR, Herbort-Brand U, Kabir NS, Dittmann S, Friedrich C, Zumhagen S, Gualandi F, Selvatici R, Rapezzi C, Arbustini E, Ferlini A, Fabritz L, Schulze-Bahr E, Brand T, Decher N. Rinné S, et al. Among authors: ferlini a. J Mol Cell Cardiol. 2020 Aug;145:74-83. doi: 10.1016/j.yjmcc.2020.06.005. Epub 2020 Jun 11. J Mol Cell Cardiol. 2020. PMID: 32535041
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. Broly M, et al. Among authors: ferlini a. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196516 Free PMC article.
307 results