Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E. Schneeberger(Universität Hamburg), Ashley Andrews, Lenka Nosková(Charles University), Katleen Ballon(KU Leuven), Maria Iascone(Ospedale Papa Giovanni XXIII), Heidi Cope(Duke University), Diane Beysen(Antwerp University Hospital), Daniela Buhaş(McGill University Health Centre), Mathias Woidy(Universität Hamburg), Mohammad Doosti, Corina Heller(Praxis für Humangenetik Tübingen), Paola Francesca Ajmone(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Laura M. Amendola(University of Washington Medical Center), Esther M. Maier(Ludwig-Maximilians-Universität München), Stéphanie Fox(Université Laval), Maria Francesca Bedeschi(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Tomáš Honzík(Charles University), David Murphy(National Hospital for Neurology and Neurosurgery), Poupak Javaher-Haghighi(Medicover), Majid Alfadhel(King Saud bin Abdulaziz University for Health Sciences), Saskia Biskup(Praxis für Humangenetik Tübingen), Bryn D. Webb(Child Health and Development Institute), Justin Alvey, María Palomares‐Bralo(Hospital Universitario La Paz), Majid Mojarrad(Mashhad University of Medical Sciences), Ehsan Ghayoor Karimiani(St George's, University of London), R. Frank Kooy(University of Antwerp), Jaak Jaeken(KU Leuven), Margaret P Adam(University of Washington), Rami Abou Jamra(Leipzig University), Fernando Santos‐Simarro(Hospital Universitario La Paz), Henry Houlden(Queen Mary University of London), René Santer(Universität Hamburg), Amarilis Sanchez‐Valle(University of South Florida), Reza Maroofian(University College London), Pankaj B. Agrawal(Post Graduate Institute of Medical Education and Research), Emanuele G. Coci(Klinikum Magdeburg), Marije Meuwissen(Antwerp University Hospital), Stanislav Kmoch(Charles University), Hilde Peeters(KU Leuven), A. Alonso(Hospital Universitario La Paz), Malik Alawi(Universität Hamburg), Mercedes E. Alejandro, David R. Adams, Georg Christoph Korenke(Klinikum Oldenburg), Fanny Kortüm(Universität Hamburg), Maria T. Acosta, Jane Juusola, Manuela Siekmeyer(University Hospital Leipzig)
Cited by 59
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|808
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Comprehensive molecular characterization of mitochondrial genomes in human cancers
|Nature Genetics|2020|516