List of Publications
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Growth charts in Cockayne syndrome type 1 and type 2
Baer S, Tuzin N, Kang PB, Mohammed S, Kubota M, van Ierland Y, Busa T, Rossi M, Morel G, Michot C, Baujat G, Durand M, Obringer C, le May N, Calmels N, Laugel V
European journal of medical genetics. 2021 Jan;64(1):104105
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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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Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant
Hanker B, Gillessen-Kaesbach G, Hüning I, Lüdecke H-J, Wieczorek D
European journal of human genetics : EJHG. 2022;30(1):126–32
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, Ravenswaaij‐Arts CMA, Plutino M, Karmous‐Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem L van, Dupont C, Verloes A, Tabet A
Clinical Genetics. 2021 Oct;100(4):396–404
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Dingemans AJM, Truijen KMG, Kim J-H, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn E-YE, de Vries BBA, Vissers LELM
European Journal of Human Genetics. 2021 Sep 15
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A
Genetics in Medicine. 2021 Aug;23(8):1474–83
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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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Genetics of craniofacial malformations
Schmetz A, Amiel J, Wieczorek D
Seminars in fetal & neonatal medicine. 2021 Dec;26(6):101290
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Averdunk L, Sticht H, Surowy H, Lüdecke H-J, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D
Journal of molecular medicine (Berlin, Germany). 2021;99(12):1755–68
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Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D
Italian journal of pediatrics. 2021 Feb 15;47(1):31