Irenaeus F M de Coo (Irenaeus de Coo, Irenaeus F M De Coo, René de Coo, René I F M de Coo)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 7

Top Topics

Mitochondrial Dna

Top Venues

Annals of clinical and translational neurology

European journal of human genetics : EJHG

The Journal of experimental medicine

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, Irenaeus F M de Coo, Terry G J Derks, Sabine A Fuchs, Johanna M P van den Hout, Hidde H Huidekoper, Leo A J Kluijtmans, Klaas Koop, Charlotte M A Lubout, Margaretha F Mulder, Bianca Panis, M Estela Rubio-Gozalbo, Monique G de Sain-van der Velden, Jaqueline Schaefers, Andrea B Schreuder, Gepke Visser, Ron A Wevers, Frits A Wijburg, Margaretha Rebecca Heiner-Fokkema, Francjan J van Spronsen
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. International journal of neonatal screening 9 (4) (2023)
Roy A M Haast, Irenaeus F M de Coo, Dimo Ivanov, Ali R Khan, Jacobus F A Jansen, Hubert J M Smeets, Kâmil Uludağ
Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients. Brain communications 4 (1) (2022)
Kristin N Varhaug, Gonzalo S Nido, Irenaeus F M de Coo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A Bindoff
Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology 7 (8) (2020)
Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elżbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Chrisodoulou, Dorota Wesol-Kucharska, Dariusz Rokicki, Hubert J M Smeets, Ewa Pronicka, David R Thorburn, Grainne S Gorman, Robert McFarland, Robert W Taylor, Yi Shiau Ng
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of clinical and translational neurology 6 (3) (2019)
Rick Kamps, Radek Szklarczyk, Tom E Theunissen, Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Iris B Boesten, Bart de Koning, Bianca J van den Bosch, Gajja S Salomons, Marisa Simas-Mendes, Rob Verdijk, Kees Schoonderwoerd, Irenaeus F M de Coo, Jo M Vanoevelen, Hubert J M Smeets
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. European journal of human genetics : EJHG 26 (4) (2018)
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D Speer, Zhi Li, Leontine M van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H Lequin, Johan M Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W W Brouwer, Wilfred F J Van IJcken, Marta Martín-Fernández, Irenaeus F M de Coo, Jeroen Dudink, Femke A T de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J Crow, Frans W Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M S Mancini
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. The Journal of experimental medicine 213 (7) (2016)
Marije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, Maarten H Lequin, Jan M Cobben, Irenaeus F M de Coo, Jeske van Harssel, Suzanne Sallevelt, Gwendolyn Woldringh, Marjo S van der Knaap, Linda S de Vries, Grazia Maria Simonetta Mancini
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genetics in medicine : official journal of the American College of Medical Genetics 17 (11) (2015)