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Year Number of Results
2002 2
2005 3
2006 3
2007 3
2008 3
2009 5
2010 3
2011 1
2013 3
2014 9
2015 17
2016 14
2017 7
2018 14
2019 7
2020 14
2021 11
2022 21
2023 11
2024 6

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Page 1
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Among authors: milani d. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: milani d. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Fragile X syndrome: a review of clinical and molecular diagnoses.
Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S. Ciaccio C, et al. Among authors: milani d. Ital J Pediatr. 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. Ital J Pediatr. 2017. PMID: 28420439 Free PMC article. Review.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: milani d. Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. Hum Mutat. 2022. PMID: 35904121
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: milani d. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: milani d. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Peng SX, Pei J, Rinaldi B, Chen J, Ge YH, Jia M, Wang J, Delahaye-Duriez A, Sun JH, Zang YY, Shi YY, Zhang N, Gao X, Milani D, Xu X, Sheng N, Gerard B, Zhang C, Bayat A, Liu N, Yang JJ, Shi YS. Peng SX, et al. Among authors: milani d. Mol Psychiatry. 2022 Oct;27(10):4092-4102. doi: 10.1038/s41380-022-01659-8. Epub 2022 Jun 13. Mol Psychiatry. 2022. PMID: 35697757
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: milani d. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: milani d. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
Intellectual Disability: When the Hypertrichosis Is a Clue.
Pezzani L, Milani D, Tadini G. Pezzani L, et al. Among authors: milani d. J Pediatr Genet. 2015 Sep;4(3):154-8. doi: 10.1055/s-0035-1564442. Epub 2015 Sep 28. J Pediatr Genet. 2015. PMID: 27617126 Free PMC article. Review.
134 results