Mortier, Geert

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

Hellemans, J., Mortier, G., De Paepe, A., Speleman, F., & Vandesompele, J. (2007) · Genome Biology

Molecular Biology Techniques and ApplicationsGene expression and cancer classification

Cited by 4,023

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Nosology and classification of genetic skeletal disorders: 2019 revision

Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 600

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., Saitoh, K., Komata, M., Katou, Y., Clark, D., et al. (2012) · Nature

Genomics and Chromatin DynamicsDNA Repair Mechanisms

Cited by 577

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 569

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., et al. (2010) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 489

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

Cited by 361

The annual incidence of DiGeorge/velocardiofacial syndrome

Devriendt, K., Fryns, J. P., Mortier, G., van Thienen, M. N., & Keymolen, K. (1998) · Journal of Medical Genetics

Intracranial Aneurysms: Treatment and ComplicationsImmunodeficiency and Autoimmune Disorders

Cited by 330

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., et al. (2009) · European Journal of Medical Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 216

Familial hypertryptasemia with associated mast cell activation syndrome

Sabato, V., Van De Vijver, E., Hagendorens, M., Vrelust, I., Reyniers, E., Fransen, E., Bridts, C., De Clerck, L., Mortier, G., Valent, P., et al. (2014) · Journal of Allergy and Clinical Immunology

Mast cells and histaminePlatelet Disorders and Treatments

Cited by 52

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

Geysens, M., Souche, E., Baroni, M. C., Benoit, V., Beyltjens, T., Bossuyt, W., Bours, V., Crabbé, M., Croes, D., De Smet, M., et al. (2026) · Genome Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 0