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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East2021 Frontiers in Pediatrics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Hicham Mansour, Annemieke M Aartsma-Rus, +1 more
13citations -
Stratification of Type 2 Diabetes by Age of Diagnosis in the UK Biobank Reveals Subgroup-Specific Genetic Associations and Causal Risk Profiles2021 Diabetes article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Raymond Noordam, Kristi Läll, Roelof A. J. Smit, Triin Laisk, Andres Metspalu, Tõnu Esko, +5 more
30citations -
Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard2024 Studies in health technology and informatics book-chapter Health Professions Electronic Health Records Systems Open access
Ariadna Pérez Garriga, Philipp Honrath, Stefan Wolking, Beatrice Coldewey, Susann A. Bozkir, Patrick May, +3 more
1citations -
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management2024 European Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access
Chrystelle Colas, Léa Guerrini‐Rousseau, Manon Suerink, Richard Gallon, Christian Peter Kratz, Éloïse Ayuso, +5 more
41citations -
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Federica Montagnese, Katy de Valle, Richard J.L.F. Lemmers, Karlien Mul, Julie Dumonceaux, Nicol Cornelia Voermans, +18 more
19citations -
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, +88 more
28citations -
Genetic analysis of muscular dystrophies: our experience in Mexico2021 Folia Neuropathologica article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rosa Elena Escobar‐Cedillo, Luz Berenice López-Hernández, Antonio Miranda‐Duarte, María Dolores Curiel-Leal, Andrea Suarez-Ocón, Laura Sánchez‐Chapul, +4 more
6citations -
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis2024 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Gabriella E. Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, Izabela M. Krzyzewska, +26 more
25citations -
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, +54 more
31citations -
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies2021 Journal of Neurology Neurosurgery & Psychiatry article Medicine Epilepsy research and treatment Open access
Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, +21 more
49citations -
Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology2020 European Journal of Neurology article Medicine Cerebrovascular and genetic disorders Open access
Michelangelo Mancuso, Marcel Arnold, Anna Bersano, Alessandro P. Burlina, Hugues Chabriat, Stéphanie Debette, +8 more
194citations -
Onset features and time to diagnosis in Friedreich’s Ataxia2020 Orphanet Journal of Rare Diseases article Neuroscience Genetic Neurodegenerative Diseases Open access
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, +11 more
67citations -
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, +15 more
48citations -
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Daniëlle C M van der Kaay, Anne Maria Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, +4 more
5citations -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more
20citations -
Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome2020 Journal of Clinical Ultrasound article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Judith Altmann, Denise Horn, Dirk Korinth, Thomas Eggermann, Wolfgang Henrich, Stefan Verlohren
12citations -
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey2020 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Leroy ten Dam, Marianne de Visser, Ieke B. Ginjaar, Hermine A. van Duyvenvoorde, Silvana van Koningsbruggen, Anneke J. van der Kooi
5citations