Tobias B. Haack

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Genetic Disorder, Genetics, Progressive Brain Atrophy +7

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen et al. · The American Journal of Human Genetics · 2015 · 106 citations · Full text

Severe Speech Impairment, Genetic Disorder, Medicine +9

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack et al. · The American Journal of Human Genetics · 2017 · 89 citations · Full text

Biallelic Mutations, Mitochondrial Function, Genetic Disorder +7