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Geert Mortier | doi.page

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Geert Mortier

Center for Human Genetics(US)KU Leuven(BE)

Publications by Year

Research Areas

Connective tissue disorders research, Bone health and treatments, Genomic variations and chromosomal abnormalities, Dermatological and Skeletal Disorders, Metabolism and Genetic Disorders

Most-Cited Works

→ qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data(2007)4,018 cited
→ Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
→ Nosology and classification of genetic skeletal disorders: 2010 revision(2011)713 cited
→ Nosology and classification of genetic skeletal disorders: 2019 revision(2019)599 cited
→ HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle(2012)568 cited
→ Nosology and classification of genetic skeletal disorders: 2015 revision(2015)559 cited

→ Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene(1995)

517 cited

→ De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited

→ Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects(2000)497 cited

→ Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis(2004)458 cited