Hennekam, Raoul C.

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 2,235

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 1,217

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

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 658

The Smith-Lemli-Opitz syndrome

Kelley, R. I., & Hennekam, R. C. M. (2000) · Journal of Medical Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 480

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

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

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 296

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation

Genomics and Rare DiseasesChromatin Remodeling and Cancer

Cited by 221

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, A. S. P., Oostdijk, W., Voshol, P., Cambridge, E., White, J. K., le Tissier, P., Gharavy, S. N. M., et al. (2012) · Nature Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 217

LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

Cited by 171

Mutations in TBL1X Are Associated With Central Hypothyroidism

Heinen, C. A., Losekoot, M., Sun, Y., Watson, P. J., Fairall, L., Joustra, S. D., Zwaveling-Soonawala, N., Oostdijk, W., van den Akker, E. L. T., Alders, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 92

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

de La Dure‐Molla, M., Fournier, B. P., Manzanares, M. C., Acevedo, A. C., Hennekam, R. C., Friedlander, L., Boy‐Lefèvre, M., Kerner, S., Toupenay, S., Garrec, P., et al. (2019) · American Journal of Medical Genetics Part A

dental development and anomaliesCleft Lip and Palate Research

Cited by 85

A specific mutation in TBL1XR1 causes Pierpont syndrome

Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., et al. (2016) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 73

Mutation update for the PORCN gene

Lombardi, M. P., Bulk, S., Celli, J., Lampe, A., Gabbett, M. T., Ousager, L. B., van der Smagt, J. J., Soller, M., Stattin, E.-L., Mannens, M. A. M. M., et al. (2011) · Human Mutation

Genetic and rare skin diseases.Genomics and Rare Diseases

Cited by 72

Mutations in IRS4 are associated with central hypothyroidism

Heinen, C. A., de Vries, E. M., Alders, M., Bikker, H., Zwaveling-Soonawala, N., van den Akker, E. L. T., Bakker, B., Hoorweg-Nijman, G., Roelfsema, F., Hennekam, R. C., et al. (2018) · Journal of Medical Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 38

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, D., Hullings, M., Gil-Rodríguez, M. C., Fincher, C. T., Mallozzi, M. B., Loy, E., Albrecht, M., Kaur, M., Limon, J., Rampuria, A., et al. (2012) · European Journal of Human Genetics

Genomics and Rare DiseasesDNA Repair Mechanisms

Cited by 33

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., et al. (2020) · Journal of Intellectual Disability Research

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 33