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Publications

Wain K., Riggs E., Hanson K., Savage M., Riethmaier D., Muirhead A., Mitchell E., Smith Packard B, Faucett W. A. The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing. J of Genet Couns. 2012. October; 21:631-637.

Zufferey, F., Sherr, E.H., Beckmann, N.D., Hanson, E., Maillard, A.M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W.A., Goin-Kochel, R.P., Grant, E., Harewood, L., Hunter, J.V., Lebon, S., Ledbetter, D.H., Martin, C.L., Mannik, K., Martinet, D., Mukherjee, P., Ramocki, M.B., Spence, S.J., Steinman, K., Tjernagel, J., Simons VIP Consortium, The 16p11.2 European Consortium, Spiro, J.E., Reymond, A., Beckmann, J.S., Chung, W.K. and Jacquemont, S.: A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics 49(10):660-668, 2012. PMID: 23054248.

Moreno-De-Luca, D., Sanders, S.J., Willsey, A.J., Mulle, J.G., Lowe, J.K., Geschwind, D.H., State, M.W., Martin, C.L. and Ledbetter, D.H. (2012, October). Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Molecular Psychiatry , epub ahead of print.   

Wapner, R.J., Martin, C.L., Levy, B., Ballif, B.C., Eng, C.M., Zachary, J.M., Savage, M., Platt, L.D., Saltzman, D., Grobman, W.A., Klugman, S., Scholl, T., Simpson, J.L., McCall, K., Aggarwal, V.S., Bunke, B., Nahum, O., Patel, A., Lamb, A.N., Thom, E.A., Beaudet, A.L., Ledbetter, D.H., Shaffer, L.G. and Jackson, L.. (2012, Dec). Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine , 367(23), 2175-2184.   

Moreno-De-Luca, A., Ledbetter, D.H. and Martin, C.L. (2012). Genetic insights into the causes and classification of cerebral palsies. The Lancet Neurology , 11 (3),283-292.   

Moreno-De-Luca D., SGENE Consortium, Mulle J.G., Simons Simplex Collection Consortium, Kaminsky E.B., Sanders S.J., GeneSTAR, Myers S.M., Adam M.P., Pakula A.T., Eisenhauer N.J., Uhas K., Weik L, Guy L., Care M.E., Morel C.F., Boni C., Salbert B.A., Chandrareddy A., Demmer L.A., Chow E.W.C., Surti U., Aradhya S., Pickering D.L., Golden D.M., Sanger W.G., Aston E., Brothman A.R., Gliem T.J., Thorland E.C., Ackley T., Iyer R., Huang S., Barber J.C., Crolla J.A., War. (2010, November). Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American Journal of Human Genetics, 87(5):618-30.   

Miller D.T., Adam M.P., Aradhya S., Biesecker L.G., Brothman A.R., Carter N.P., Church D.M., Crolla J.A., Eichler E.E., Epstein C.J., Faucett W.A., Feuk L., Friedman J.M., Hamosh A., Jackson L., Kaminsky E.B., Kok K., Krantz I.D., Kuhn R.M., Lee C., Ostell J.M., Rosenberg C., Scherer S.W., Spinner N.B., Stavropoulos D.J., Tepperberg J.H., Thorland E.C., Vermeesch J.R., Waggoner D.J., Watson M.S., Martin C.L. and Ledbetter D.H.. (2010, May). Consensus statement on chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. American Journal of Human Genetics, 86(5):749-764.   

Khoury, MJ, Coates, RJ, Fennell ML, Glasgow RE, Scheuner MT, Schully SD, Williams MS and Clauser SB. Multilevel Research and the Challenges of Implementing Genomic Medicine; Journal of the National Cancer Institute Monographs, No. 44, 2012: 112-120.

Crockett DK, Ridge PG, Wilson AR, Lyon E, Williams MS, Narus SP, Facelli JC and Mitchell JA. Consensus: A framework for evaluation of uncertain gene variants in laboratory test reporting. Genome Medicine 2012, e-published 28 May 2012.

Williams, MS. The Public Health Genomics Translation Gap: What we don’t have and why it matters. Public Health Genomics 2012, 15:132-138.

Crockett DK, Lyon E, Williams MS, Narus SP, Facelli JC, Mitchell JA. Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants. Journal of the American Medical Informatics Association (JAMIA) 19:207-11, 2012