Publications - Page 4 of 29 - ERN ITHACA

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

Pennamen P, Tingaud‐Sequeira A, Michaud V, Morice‐Picard F, Plaisant C, Vincent‐Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B

Pigment Cell & Melanoma Research. 2021 Jan 3;34(1):132–5
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier‐Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin‐Robinet C, Faivre L, Perrin L, Verloes A

Clinical Genetics. 2021 Apr 5;99(4):519–28
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, al Khouri M, Alembik Y, Baruteau J, Arnoux J-B, Brassier A, Brehin A-C, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S

Journal of medical genetics. 2021 Mar 18
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
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
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
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
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
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
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