Publications - Page 7 of 29 - ERN ITHACA

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Lopergolo D, Privitera F, Castello G, lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, van Maldergem L, Serrano M, Pineda M, Fons‐Estupina MDC, van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F

Clinical Genetics. 2021 Mar 9;99(3):462–74
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D’Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V, Telethon Undiagnosed Diseases Program, D’Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N

Human mutation. 2021;42(6):745–61
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
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A

Brain. 2021 Oct 22;144(9):2659–69
CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells

Marika Guercio, Domenico Orlando, Stefano Di Cecca, Matilde Sinibaldi, Iolanda Boffa, Simona Caruso, Zeinab Abbaszadeh, Antonio Camera, Biancamaria Cembrola, Katia Bovetti, Simona Manni, Ignazio Caruana, Roselia Ciccone, Francesca Del Bufalo, pietro Merli, Luciana Vinti, Katia Girardi, Annalisa Ruggeri, Cristiano De Stefanis, Marco Pezzullo, Ezio Giorda, Marco Scarsella, Rita De Vito, Sabina Barresi, Andrea Ciolfi, Marco Tartaglia, Lorenzo Moretta, Franco Locatelli, Concetta Quintarelli, Biagio De Angelis

Haematologica. 2020 May 7;106(4):987–99
Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? Obesity surgery

Onesimo R, Proli F, Leoni C, Contaldo I, Salerni A, Conti G, Tartaglia M, Zampino G

2021 Jan;31(1):445–50
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
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Wenger BM, Patel N, Lui M, Moscati A, Do R, Stewart DR, Tartaglia M, Muiño-Mosquera L, de Backer J, Kontorovich AR, Gelb BD

Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(1):94–102
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

Lorca R, Pannone L, Cuesta-Llavona E, Bocchinfuso G, Rodríguez-Reguero J, Carpentieri G, Hernando I, Flex E, Tartaglia M, Coto E, Gómez J, Martinelli S

Clinical genetics. 2021;99(3):457–61
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination

Rossi S, Barresi S, Giovannoni I, Alesi V, Ciolfi A, Colafati GS, Diomedi-Camassei F, Miele E, Cacchione A, Quacquarini D, Carai A, Tartaglia M, Giannini C, Giangaspero F, Mastronuzzi A, Alaggio R

Brain pathology (Zurich, Switzerland). 2021;31(3):e12934