Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome von Boyd, Brenna M., Fang, He, Allingham‐Hawkins, Diane, Fischer, Gregory J., Peng, Siwu, Puryear, Lauren, Liu, Yajuan J., Hisama, Fuki M.

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Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women von SCHMIDT, Brian J, GREENBERG, Cheryl R, ALLINGHAM-HAWKINS, Diane J, SPRIGGS, Elizabeth L

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De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report von Al Dhaibani, Muna A, Allingham-Hawkins, Diane, El-Hattab, Ayman W

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Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies von Allingham-Hawkins, Diane J., Chitayat, David, Cirigliano, Vincenzo, Summers, Anne, Tokunaga, Jason, Winsor, Elizabeth, Chun, Kathy

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eP404: Evidence supporting the pathogenicity of the NADSYN1 c.1717G>A (p.Ala573Thr) variant in individuals referred for clinical testing von Sybouts, Erin, Bend, Renee, Allingham-Hawkins, Diane, Weber, James

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Prevalence and penetrance of BRCA1 and BRCA2 gene Mutations in unselected Ashkenazi Jewish women with breast cancer von WARNER, E, FOULKES, W, DI PROSPERO, L, CONTIGA, V, SERRUYA, C, KLEIN, M, MOSLEHI, R, HONEYFORD, J, LIEDE, A, GLENDON, G, BRUNET, J.-S, NAROD, S, GOODWIN, P, MESCHINO, W, BLONDAL, J, PATERSON, C, OZCELIK, H, GOSS, P, ALLINGHAM-HAWKINS, D, HAMEL, N

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Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study-preliminary data von Allingham-Hawkins, Diane J., Babul-Hirji, Riyana, Chitayat, David, Holden, Jeanette J.A., Yang, Kathy T., Lee, C., Hudson, R., Gorwill, H., Nolin, Sarah L., Glicksman, Anne, Jenkins, Edmund C., Brown, W. Ted, Howard-Peebles, Patricia N., Becchi, Cindy, Cummings, Emilie, Fallon, Lee, Seitz, Suzanne, Black, Susan H., Vianna-Morgante, Angela M., Costa, Silvia S., Otto, Paulo A., Mingroni-Netto, Regina C., Murray, Anna, Webb, J., MacSwinney, F., Dennis, N., Jacobs, Patricia A., Syrrou, Maria, Georgiou, Ioannis, Patsalis, Phillipos C., Giovannucci Uzielli, Maria L., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., Vieri, F.

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ERCC1 Expression Analysis to Guide Therapy in Non-Small Cell Lung Cancer von Allingham-Hawkins, Diane, Lea, Andrew, Levine, Susan

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BRAF p.Val600Glu (V600E) Testing for Assessment of Treatment Options in Metastatic Colorectal Cancer von Lea, Andrew, Allingham-Hawkins, Diane, Levine, Susan

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Whole exome sequencing for cancer - is there evidence of clinical utility? von Malhotra, Alka, Levine, Susan, Allingham-Hawkins, Diane

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DecisionDx-GBM Gene Expression Assay for Prognostic Testing in Glioblastoma Multiform von Allingham-Hawkins, Diane, Lea, Andrew, Levine, Susan

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KIF6 p.Trp719Arg Testing to Assess Risk of Coronary Artery Disease and/or Statin Response von Allingham-Hawkins, Diane, Lea, Andrew, Levine, Susan

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Increase in genetic tests highlights need for oversight von Hayes, Winifred S, Allingham-Hawkins, Diane

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FRAXE expansion is not a common etiological factor among developmentally delayed males von ALLINGHAM-HAWKINS, D. J, RAY, P. N

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Heterogeneity in Roberts syndrome von Allingham-Hawkins, Diane J., Tomkins, Darrell J.

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Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry von Allingham-Hawkins, Diane J., McGlynn-Steele, Leslie K., Brown, Charlotte A., Sutherland, Joanne, Ray, Peter N.

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Tissue-specific methylation differences and cognitive function in fragile X premutation females von Allingham-Hawkins, Diane J., Brown, Charlotte A., Babul, Riyana, Chitayat, David, Krekewich, Karla, Humphries, Tom, Ray, Peter N., Teshima, Ikuko E.

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Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997 von Holden, Jeanette J.A., Percy, Maire, Allingham-Hawkins, Diane, Brown, W. Ted, Chiurazzi, Pietro, Fisch, Gene, Gane, Louise, Gunter, Chris, Hagerman, Randi, Jenkins, Edmund C., Kooy, R. Frank, Lubs, Herbert A., Murray, Anna, Neri, Giovanni, Schwartz, Charles, Tranebjaerg, Lisbeth, Villard, Laurent, Willems, Patrick J.

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Increase in genetic tests highlights need for oversight von Hayes, Winifred S, Allingham-Hawkins, Diane

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Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in UnselectedAshkenazi Jewish Women With Breast Cancer von Warner, Ellen, Foulkes, William, Goodwin, Pamela, Meschino, Wendy, Blondal, John, Paterson, Colleen, Ozcelik, Hilmi, Goss, Paul, Allingham-Hawkins, Diane, Hamel, Nancy, Di Prospero, Lisa, Contiga, Velita, Serruya, Corinne, Klein, Meri, Moslehi, Roxana, Honeyford, Joanne, Liede, Alexander, Glendon, Gordon, Brunet, Jean-Sébastien, Narod, Steven

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