Alma Kuechler

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Juliane Najm, Denise Horn, Isabella Wimplinger et al. · Nature Genetics · 2008 · 289 citations

Medicine, Genetics, Neuroscience +12

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

Life Sciences, Genetics, Molecular Genetics +10

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Microdissection based high resolution multicolor banding for all 24 human chromosomes

Thomas Liehr, Anita Heller, Heike Starke et al. · International Journal of Molecular Medicine · 2002 · 222 citations

Life Sciences, Biology, Genetics +17

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7