Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels by Kerkhof, Jennifer, Schenkel, Laila C., Reilly, Jack, McRobbie, Sheri, Aref-Eshghi, Erfan, Stuart, Alan, Rupar, C. Anthony, Adams, Paul, Hegele, Robert A., Lin, Hanxin, Rodenhiser, David, Knoll, Joan, Ainsworth, Peter J., Sadikovic, Bekim

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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes by Aref-Eshghi, Erfan, Bend, Eric G, Hood, Rebecca L, Schenkel, Laila C, Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C S, Cheung, Sau Wai, Campeau, Philippe M, Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A, Callen, David J, Innes, A Micheil, White, Susan M, Meschino, Wendy S, Shuen, Andrew Y, Paré, Guillaume, Bulman, Dennis E, Ainsworth, Peter J, Lin, Hanxin, Rodenhiser, David I, Hennekam, Raoul C, Boycott, Kym M, Schwartz, Charles E, Sadikovic, Bekim

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Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature by Aref-Eshghi, Erfan, McGee, Jacob D, Pedro, Victor P, Kerkhof, Jennifer, Stuart, Alan, Ainsworth, Peter J, Lin, Hanxin, Volodarsky, Michael, McLachlin, Catherine Meg, Sadikovic, Bekim

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions by Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim

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The defining DNA methylation signature of Floating-Harbor Syndrome by Hood, Rebecca L, Schenkel, Laila C, Nikkel, Sarah M, Ainsworth, Peter J, Pare, Guillaume, Boycott, Kym M, Bulman, Dennis E, Sadikovic, Bekim

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Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array by Schenkel, Laila C, Schwartz, Charles, Skinner, Cindy, Rodenhiser, David I, Ainsworth, Peter J, Pare, Guillaume, Sadikovic, Bekim

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome by Schenkel, Laila C, Kernohan, Kristin D, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J, Rodenhiser, David I, Pare, Guillaume, Bérubé, Nathalie G, Skinner, Cindy, Boycott, Kym M, Schwartz, Charles, Sadikovic, Bekim

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DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome by Schenkel, Laila C., Rodenhiser, David I., Ainsworth, Peter J., Paré, Guillaume, Sadikovic, Bekim

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Pathological findings in the x-linked form of Charcot-Marie-Tooth disease : a morphometric and ultrastructural analysis by HAHN, Angelika F, AINSWORTH, Peter J, BOLTON, Charles F, BILBAO, Juan M, VALLAT, Jean-Michel

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Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study by Kotsopoulos, Joanne, Librach, Clifford L, Lubinski, Jan, Gronwald, Jacek, Kim-Sing, Charmaine, Ghadirian, Parviz, Lynch, Henry T, Moller, Pal, Foulkes, William D, Randall, Susan, Manoukian, Siranoush, Pasini, Barbara, Tung, Nadine, Ainsworth, Peter J, Cummings, Shelly, Sun, Ping, Narod, Steven A

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The Impact of Population-Based Screening Studies on Hemochromatosis Screening Practices by Chandok, Natasha, Speechley, Mark, Ainsworth, Peter J., Chakrabarti, Subrata, Adams, Paul C.

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Allele-Specific Non-CpG Methylation of the Nf1 Gene during Early Mouse Development by Haines, Thomas R., Rodenhiser, David I., Ainsworth, Peter J.

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Novel 95G>A (R32K) somatic mosaic connexin 32 mutation by Baker, Steven K., Reith, Cara C., Ainsworth, Peter J.

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease by HAHN, ANGELIKA F., BOLTON, CHARLES F., WHITE, CHRISTOPHER M., BROWN, WILLIAM F., TUUHA, SASCHA E., TAN, CHARLES C., AINSWORTH, PETER J.

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Clinical and pathological observations in men lacking the gap junction protein connexin 32 by Hahn, Angelika F., Ainsworth, Peter J., Naus, Christian C. G., Mao, Jian, Bolton, Charles F.

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Studies of human motor physiology with transcranial magnetic stimulation by Chen, Robert

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Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation by Feldman, Gerald L., Edmonds, Merrill W., Ainsworth, Peter J., Schuffenecker, Isabelle, Lenoir, Gilbert M., Saxe, Andrew W., Talpos, Gary B., Roberson, Jacquelyn, Petrucelli, Nancie, Jackson, Charles E.

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A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39 by Rodenhiser, David I., Jung, Jack H., Gillet, Jane M. R., Hovland, Ken, Andrews, Joseph, Ainsworth, Peter J., Coulter-Mackie, Marion, Singh, Shiva M.

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