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 · 316 citations · Full text

Is Mutated, Mendelian Disorder, Genetic Disorder +7

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 · 276 citations · Full text

Sequencing, Next-generation Sequencing, Genetics +8

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 · 232 citations · Full text

Cannabis Use, Neurodegenerative Diseases, Neurodegenerative Disease Pharc +12

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 · 147 citations · Full text

Autosomal-recessive Cerebellar Ataxia, Mendelian Disorder, Neurogenomics +7

A genomics approach to male infertility

Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun et al. · Genetics in Medicine · 2020 · 88 citations