Louisa Kalsner

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16

Mitochondrial Neurogastrointestinal Encephalomyopathy

Antonio R. Pérez‐Atayde, Victor L. Fox, Jonathan E. Teitelbaum et al. · The American Journal of Surgical Pathology · 1998 · 67 citations

Life Sciences, Neurology, Pathology +17

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 65 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

Louisa Kalsner, Jennifer Twachtman‐Bassett, Kristin Tokarski et al. · Molecular Genetics & Genomic Medicine · 2017 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17