The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos, +51

Journal of Inherited Metabolic Disease

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch, +107

The Lancet Neurology

Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants +1

Expression of glutamate receptor subunits in human cancers

Andrzej Stepulak, Christine Gebhardt, Ortrud Uckermann, +7

Histochemistry and Cell Biology

G Protein-coupled ReceptorReceptor (Biochemistry)Glutamate Receptor SubunitsMolecular NeurobiologyMedicine +3

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, +50

Genome Medicine

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies Köpke, +29

The American Journal of Human Genetics

GeneticsImmunologyRetrograde TransportPathologyDisease Gene Identification +18

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, +11

The American Journal of Human Genetics

UrologyGenetic DisorderGeneticsBiochemical GeneticsDhtkd1 Mutations Cause +3

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Christian Staufner, Tobias B. Haack, Marlies Köpke, +29

Journal of Inherited Metabolic Disease

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Robert Kopajtich, Kei Murayama, Andreas Janecke, +24

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderMuscular Hypotonia +7

Physician's guide to the diagnosis, treatment, and follow‐up of inherited metabolic diseases

Christian Staufner, Verena Peters

Journal of Inherited Metabolic Disease

ObesityMetabolic SyndromeFamily MedicineInherited Metabolic DiseasesMetabolic Disorder +7

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Stefano Vavassori, Janet Chou, Laura Faletti, +56

Journal of Allergy and Clinical Immunology

InflammationCytokineMultisystem InflammationImmunologyChronic Inflammation +5