Publications - Page 23 of 29 - ERN ITHACA

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan Z-F, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ

Science advances. 2020 Dec;6(49).
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk P-S, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, el Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel A-L, Boland A, Deleuze J-F, Thauvin-Robinet C, Rivière J-B, O’Roak BJ, Faivre L.

Journal of medical genetics. 2020;57(7):466–74.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Tran Mau-Them F, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C

Clinical genetics. 2020;98(1):43–55.
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Bruel A-L, Vitobello A, Tran Mau-Them F, Nambot S, Sorlin A, Denommé-Pichon A-S, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Clinical genetics. 2020;98(5):433–44.
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.
Defining the phenotypical spectrum associated with variants in TUBB2A

Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K

Journal of Medical Genetics. 2021 Jan;58(1):33–40.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of...

Geerts‐Haages A, Bossuyt SN v., Besten I, Bruggenwirth H, Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M

Molecular Genetics & Genomic Medicine. 2020 Nov 5;8(11).
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Moravikova J, Honzik T, Jadvidzakova E, Zdrahalova K, Kremlikova Pourova R, Korbasova M, Liskova P, Dudakova L

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2020;24(6):352.e1-352.e5.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, de Luca A, Tartaglia M, Cavé H, Zenker M

European journal of human genetics : EJHG. 2021;29(3):524–7.
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, Faber R, Digweed M, Voss R, Jäger K, Sperling K, Walter M

Aging. 2020 Jun 20;12(12):12342–75