Publications - Page 13 of 29 - ERN ITHACA

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

de Boer E, Ockeloen CW, Matalonga L, Horvath R, Cohen E, Cuesta I, Danis D, Denommé-Pichon A-S, Duffourd Y, Gilissen C, Johari M, Laurie S, Li S, Matalonga L, Nelson I, Peters S, Paramonov I, Prasanth S, Robinson P, Sablauskas K, Savarese M, Steyaert W, Töpf A, van der Velde JK, Vitobello A, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I, Banka S, Benetti E, Casari G, Ciolfi A, Clayton-Smith J, Dallapiccola B, de Boer E, Ellwanger K, Faivre L, Graessner H, Haack TB, Hammarsjö A, Havlovicova M, Hoischen A, Hugon A, Jackson A, Kleefstra T, Lindstrand A, López-Martín E, Macek M, Morleo M, Nigro V, Nordgren A, Pettersson M, Pinelli M, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Schwarz M, Tartaglia M, Thauvin C, Torella A, Verloes A, Vissers L, Votypka P, Vyshka K, Zurek B, Trimouille A, Kleefstra T, Verloes A, Vissers LELM

European Journal of Human Genetics. 2021 Sep 1;29(9):1359–68
Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Proietti Onori M, van Woerden GM

Brain research bulletin. 2021;171:209–20
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital

Santirocco M, Plaja A, Rodó C, Valenzuela I, Arévalo S, Castells N, Abuli A, Tizzano E, Maiz N, Carreras E

Prenatal diagnosis. 2021;41(1):123–35
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK

. Cold Spring Harbor molecular case studies. 2021;7(4)
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Tovy A, Rosas C, Gaikwad AS, Medrano G, Zhang L, Reyes JM, Huang Y-H, Arakawa T, Kurtz K, Conneely SE, Guzman AG, Aguilar R, Gao A, Chen C-W, Kim JJ, Carter MT, Lasa-Aranzasti A, Valenzuela I, van Maldergem L, Brunetti L, Hicks MJ, Marcogliese AN, Goodell MA, Rau RE

Haematologica. 2021 Jun 3
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases

Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF

Journal of genetic counseling. 2021;30(3):693–700
Response to letter: A decision for life – Treatment decisions in newly diagnosed families with spinal muscular atrophy. European journal of paediatric neurology

Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano EF, Ziegler A, Servais L, Muntoni F

EJPN : official journal of the European Paediatric Neurology Society. 2021;30:103–4
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Blasco-Pérez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I, Tizzano EF

Human mutation. 2021;42(6):787–95
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P

Genes. 2021;12(5)
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF

Journal of medical genetics. 2021 Apr 28