Christina Kresge

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow et al. · Human Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

Daphne J. Smits, Rachel Schot, Nathalie Krusy et al. · Brain · 2023 · 22 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +15

Biallelic variants in <scp><i>ZNF142</i></scp> lead to a syndromic neurodevelopmental disorder

Maria Bejerholm Christensen, Amanda M. Levy, Nazanin A. Mohammadi et al. · Clinical Genetics · 2022 · 16 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Child Neurology: Type 1 sialidosis due to a novel mutation in <i>NEU1</i> gene

Akilandeswari Aravindhan, Aravindhan Veerapandiyan, Chelsea Earley et al. · Neurology · 2018 · 14 citations · Full text

Medicine, Neurology, Neuroscience +15

Novel variants in <i>KAT6B</i> spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto, Jessica Kianmahd, Meghna Singh et al. · Molecular Genetics & Genomic Medicine · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12