List of Publications
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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
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C
European journal of human genetics : EJHG. 2021;29(1):88–98
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski C, Chune V, Pantaleoni F, de Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M
European journal of human genetics : EJHG. 2021;29(1):51–60
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators
Brain : a journal of neurology. 2021;144(5):1435–50
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Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country
Olariu I-C, Popoiu A, Ardelean A-M, Isac R, Steflea RM, Olariu T, Chirita-Emandi A, Stroescu R, Gafencu M, Doros G
Frontiers in pediatrics. 2021;9:612644
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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J
Neurogenetics. 2021;22(4):343–6