Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik, +30

Nature Genetics

Neurodegenerative DiseasesMendelian DisorderMitochondrial FunctionGenetic DisorderGenetics +5

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, +37

The American Journal of Human Genetics

Genetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification +1

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, +30

European Journal of Human Genetics

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, +64

Nature Communications

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Johannes Egerer, +22

Human Genetics

GeneticsMolecular GeneticsMolecular ResearchMedicineFurther Characterization

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, +21

Prenatal Diagnosis

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, +25

The American Journal of Human Genetics

Bi-allelic MutationsMitochondrial BiogenesisMitochondrial FunctionGeneticsPhysiology +4

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, +77

Genetics in Medicine

Neurodevelopmental DisordersSyndromic AutismMedicineGeneticsGenetic Disorder +11

Depressive behaviour in children diagnosed with a mitochondrial disorder

Éva Morava, Thatjana Gardeitchik, Tamás Kozicz, +7

Mitochondrion

PsychopathologyPsychiatryMood SymptomMedicineDepression +5

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, +17

Journal of Inherited Metabolic Disease

Population ChildrenTranslational MedicineMetabolic DisorderDisease ProgressionPediatric Hematology +13