Mirna Assoum

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López et al. · The American Journal of Human Genetics · 2008 · 323 citations · Full text

Life Sciences, Genetics, Neurology +11

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson et al. · The American Journal of Human Genetics · 2010 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Sascha Vermeer, Alexander Hoischen, Rowdy Meijer et al. · The American Journal of Human Genetics · 2010 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17