Expanding the spectrum of CEP55 ‐associated disease to viable phenotypes

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

(2019) Lettie E. Rawlins et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

(2019) Paranchai Boonsawat et al.   GENETICS IN MEDICINE

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

(2017) Patrick Frosk et al.   JOURNAL OF MEDICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

In silico prediction of splice-altering single nucleotide variants in the human genome

(2014) Xueqiu Jian et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH