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, +18

The American Journal of Human Genetics

Is MutatedMendelian DisorderGenetic DisorderGeneticsMolecular Biology +5

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

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, +113

The American Journal of Human Genetics

SequencingNext-generation SequencingGeneticsPathologyOmics +6

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

Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson, +15

The American Journal of Human Genetics

Cannabis UseNeurodegenerative DiseasesNeurodegenerative Disease PharcGenetic DisorderGenetics +10

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, +26

The American Journal of Human Genetics

Autosomal-recessive Cerebellar AtaxiaMendelian DisorderNeurogenomicsGenetic DisorderNext-generation Sequencing +5

A genomics approach to male infertility

Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun, +16

Genetics in Medicine

<i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, +20

Brain

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor, +31

The American Journal of Human Genetics

Early-onset Epileptic EncephalopathyGenetic DisorderGeneticsBeta 2Neurology +7

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, +7

European Journal of Human Genetics

EngineeringSingleton Exome SequencingMedicineGeneticsNext-generation Sequencing +9

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Mirna Assoum, Mustafa A. Salih, Nathalie Drouot, +7

Brain

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomics +14

<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Julia Vodopiutz, Rainer Seidl, Daniela Prayer, +20

Human Mutation

Glomerular DiseaseGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +19