Ina Schanze

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 212 citations · Full text

Medicine, Genetics, Oncology +17

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Ayeshah Chaudhry, Abdul Noor, Bryan Degagne et al. · Clinical Genetics · 2014 · 72 citations

Life Sciences, Genetics, Molecular Genetics +17

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Ina Schanze, Jens Bunt, Jonathan W. C. Lim et al. · The American Journal of Human Genetics · 2018 · 69 citations · Full text

Medicine, Genetics, Molecular Genetics +14

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of &lt;b&gt;&lt;i&gt;SMARCA2&lt;/i&gt;&lt;/b&gt; in Three Patients with Nicolaides-Baraitser Syndrome

Dietmar Wolff, Sabine Endele, Silvia Azzarello‐Burri et al. · Molecular Syndromology · 2011 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17