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Publications by Han G. Brunner

Deletions of the RUNX2 Gene Are Present in About 10% of Individuals With Cleidocranial Dysplasia

English

A Mutation Update for the FLNC Gene in Myopathies and Cardiomyopathies

English

1 in 38 Individuals at Risk of a Dominant Medically Actionable Disease

European Journal of Human Genetics

English

Assessment of Fibroblast Nuclear Morphology Aids Interpretation of LMNA Variants

European Journal of Human Genetics

English

Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders

English

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

English

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

American Journal of Human Genetics

English

Holoprosencephaly and Preaxial Polydactyly Associated With a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1

Journal of Human Genetics

English