Bader Alhaddad

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Michael Zech, Sylvia Boesch, Esther M. Maier et al. · The American Journal of Human Genetics · 2016 · 160 citations · Full text

Epigenetic Change, Genetics, Degenerative Disease +4

<i>CAD</i>mutations and uridine-responsive epileptic encephalopathy

Johannes Koch, Johannes A. Mayr, Bader Alhaddad et al. · Brain · 2016 · 121 citations · Full text

Pyrimidine Biosynthesis, Uridine-responsive Epileptic Encephalopathy, Genetics +18

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

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