Reardon, William

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

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics

Craniofacial Disorders and TreatmentsConnective tissue disorders research

Cited by 614

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 370

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 336

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Göhring, I., et al. (2007) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 317

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics

Congenital Ear and Nasal AnomaliesEpigenetics and DNA Methylation

Cited by 200

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., & Reardon, W. (2003) · Journal of Medical Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

Cited by 185

Update on Kleefstra syndrome

Willemsen, M. H., Vulto-van Silfhout, A. T., Nillesen, W. M., Wissink-Lindhout, W. M., van Bokhoven, H., Philip, N., Berry-Kravis, E. M., Kini, U., van Ravenswaaij-Arts, C. M. A., Delle Chiaie, B., et al. (2011) · Molecular Syndromology

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 185

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) · The American Journal of Human Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

Cited by 152

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Reardon, W., Smith, A., Honour, J. W., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Adès, L., Sillence, D., et al. (2000) · Journal of Medical Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 123

Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome

Kohlhase, J., Heinrich, M., Liebers, M., Fröhlich Archangelo, L., Reardon, W., & Kispert, A. (2002) · Cytogenetic and Genome Research

Developmental Biology and Gene RegulationCongenital limb and hand anomalies

Cited by 82