C. Nowak

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand et al. · Journal of Medical Genetics · 2010 · 164 citations

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 127 citations · Full text

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor et al. · The American Journal of Human Genetics · 2016 · 69 citations · Full text

Early-onset Epileptic Encephalopathy, Genetic Disorder, Genetics +9