List of Publications

Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E

Clinical genetics. 2020;98(4):418–9.

Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D

VarFish: comprehensive DNA variant analysis for diagnostics and research

Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott C-E, Mensah MA

Journal of medical Internet research. 2020;22(10):e19263.

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).

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.

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.

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.

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.

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.

Aleo S, Milani D, Pansa A, Marchisio P, Guerneri S, Silipigni R

American journal of medical genetics Part A. 2020;182(12):3071–3.