Skinner, Steven A.

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Methyl-CpG-binding protein 2 ( MECP2 ) mutation type is associated with disease severity in Rett syndrome

Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., et al. (2014) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 311

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 261

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

Motil, K. J., Caeg, E., Barrish, J. O., Geerts, S., Lane, J. B., Percy, A. K., Annese, F., McNair, L., Skinner, S. A., Lee, H., et al. (2012) · Journal of Pediatric Gastroenterology and Nutrition

Genetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Cited by 210

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Percy, A. K., Neul, J. L., Glaze, D. G., Motil, K. J., Skinner, S. A., Khwaja, O., Lee, H., Lane, J. B., Barrish, J. O., Annese, F., et al. (2010) · Annals of Neurology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 144

A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of fragile X syndrome

Berry-Kravis, E., Horrigan, J. P., Tartaglia, N., Hagerman, R., Kolevzon, A., Erickson, C. A., Hatti, S., Snape, M., Yaroshinsky, A., Stoms, G., et al. (2020) · Pediatric Neurology

Genetics and Neurodevelopmental DisordersAlzheimer's disease research and treatments

Cited by 102

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

Motil, K. J., Barrish, J. O., Lane, J., Geerts, S. P., Annese, F., McNair, L., Percy, A. K., Skinner, S. A., Neul, J. L., & Glaze, D. G. (2011) · Journal of Pediatric Gastroenterology and Nutrition

Vitamin D Research StudiesGenetics and Neurodevelopmental Disorders

Cited by 46