List of Publications
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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
Moresco G, Costanza J, Santaniello C, Rondinone O, Grilli F, Prada E, Orcesi S, Coro I, Pichiecchio A, Marchisio P, Miozzo M, Fontana L, Milani D
Italian journal of pediatrics. 2021 Mar 31;47(1):81
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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
Clinical genetics. 2021;100(2):187–200
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau‐Van‐Kien P, Smol T, Vincent‐Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin‐Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau A, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel A, Mau‐Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin‐Robinet C, Faivre L
Clinical Genetics. 2021 Mar 15;99(3):407–17
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R
American journal of human genetics. 2021;108(6):1053–68
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM
Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(4):645–52
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang Y-H, Møller RS, Scheffer IE
Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(2):363–73
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A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4
Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C
American journal of medical genetics Part A. 2021;185(6):1875–82
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A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case
Närhi A, Fernandes A, Toiviainen-Salo S, Harris J, McInerney-Leo A, Lazarus S, Avela K, Duncan EL
American journal of medical genetics Part A. 2021;185(8):2477–81
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COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful?
Pascolini S, Vannini A, Deleonardi G, Ciordinik M, Sensoli A, Carletti I, Veronesi L, Ricci C, Pronesti A, Mazzanti L, Grondona A, Silvestri T, Zanuso S, Mazzolini M, Lalanne C, Quarneti C, Fusconi M, Giostra F, Granito A, Muratori L, Lenzi M, Muratori P
Clinical and translational science. 2021;14(2):502–8
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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter J-I, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A
American journal of medical genetics Part A. 2021;185(2):517–27