Additional file 4 of A comprehensive framework for the interpretation of TTN missense variants
Maria Francesca Di Feo(University of Helsinki), Sushan Luo(Fudan University), Siiri Sarv(Tartu University Hospital), Adele D’Amico(Bambino Gesù Children's Hospital), Pamela Barraza‐Flores(Boston Children's Hospital), Katrin Õunap(Tartu University Hospital), Anna Kuchina(Research Centre for Medical Genetics), Serena Baratto(Istituto Giannina Gaslini), Ay Lin Kho(King's College London), István Balogh(University of Debrecen), Athanasios Evangeliou(St. Luke's Hospital), Federica Ricci(University of Turin), Heinz Jungbluth(King's College London), Sonia Messina(University of Messina), Martin Rees(King's College London), Michele Iacomino(Istituto Giannina Gaslini), Victoria Lillback(University of Helsinki), Minas Drakos(University of Crete), Monica Traverso(Istituto Giannina Gaslini), Anna Sárközy(Great Ormond Street Hospital), Federico Zara(Istituto Giannina Gaslini), Alan H. Beggs(Boston Children's Hospital), Enrico Bertini(Bambino Gesù Children's Hospital), Katalin Szakszon(Boston Children's Hospital), Carmelo Rodolico(Vita-Salute San Raffaele University), Marina Pedemonte(Istituto Giannina Gaslini), Chiara Fiorillo(Fondazione Stella Maris), Alessandro Mussa(Unknown), Daria Diodato(Bambino Gesù Children's Hospital), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Michela Catteruccia(Bambino Gesù Children's Hospital), Noemi Brolatti(Novartis (United Kingdom)), Casie A. Genetti(Boston Children's Hospital), Francesca Faravelli, Angelina Meybatova(King's College London), Sergei A. Kurbatov(Voronezh State Pedagogical University), G. M. Luana Mandarà, Aysylu Murtazina(Research Centre for Medical Genetics), Polina Chausova(Research Centre for Medical Genetics), Martha Spilioti(AHEPA University Hospital), Claudio Bruno(Istituto Giannina Gaslini), Franziska Schnabel(Leipzig University), Edoardo Malfatti(Hôpitaux Universitaires Henri-Mondor), Olga Shchagina(Research Centre for Medical Genetics), Ioannis Zaganas(University of Crete), Mark Holt(King's College London), Huahua Zhong(Fudan University), Giovanni Baranello, Francesco Muntoni, Mridul Johari(University of Helsinki)
Cited by 0
Related Papers
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|963
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823