List of Publications
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A human cell atlas of fetal gene expression
Cao J, O’Day DR, Pliner HA, Kingsley PD, Deng M, Daza RM, Zager MA, Aldinger KA, Blecher-Gonen R, Zhang F, Spielmann M, Palis J, Doherty D, Steemers FJ, Glass IA, Trapnell C, Shendure J
Science (New York, NY). 2020;370(6518).
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DLG4-related synaptopathy: a new rare brain disorder
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard A-M, Bjerregaard VA, Bruel A-L, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon A-S, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O’Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genetics in Medicine. 2021 May;23(5):888–99.
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel A-L, Mosca-Boidron A-L, Masurel-Paulet A, Goldenberg A, le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière J-B, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C
European Journal of Human Genetics. 2020 Jun 31;28(6):770–82.
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Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro‐Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC
Clinical Genetics. 2020 Jun 20;97(6):890–901.
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Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L, Mauri L, Selicorni A, Peron A, Grasso M, Codazzi AC, Rimini A, Marchisio PG, Coviello D, Colli A, Milani D
American journal of medical genetics Part A. 2020;182(7):1819–23.
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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation
Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, Patria MF, Marchisio P, Milani D.
American journal of medical genetics Part A. 2020;182(12):2982–7.
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Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
Aleo S, Milani D, Pansa A, Marchisio P, Guerneri S, Silipigni R
American journal of medical genetics Part A. 2020;182(12):3071–3.
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Neurological phenotype of Potocki-Lupski syndrome
Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D’Arrigo S.
American journal of medical genetics Part A. 2020;182(10):2317–24.
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, de Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M
American journal of human genetics. 2020;107(3):499–513.
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IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F
Clinical genetics. 2021;99(3):462–74.