Lina Ghaloul‐Gonzalez

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

Tobias B. Haack, Christian Staufner, Marlies Köpke et al. · The American Journal of Human Genetics · 2015 · 129 citations · Full text

Genetics, Immunology, Retrograde Transport +20

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

Christian Staufner, Tobias B. Haack, Marlies Köpke et al. · Journal of Inherited Metabolic Disease · 2015 · 109 citations

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 87 citations · Full text

Neurodevelopmental Disorders, Human Neurons, Synaptic Plasticity +11

Mitochondrial dysfunction associated with TANGO2 deficiency

Paige Heiman, Al‐Walid Mohsen, Anuradha Karunanidhi et al. · Scientific Reports · 2022 · 45 citations · Full text

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

Kate F. Kernan, Lina Ghaloul‐Gonzalez, Bita Shakoory et al. · Genes and Immunity · 2018 · 43 citations

Inflammation, Immunology, Inflammatory Marker +8