34 results on '"McLaughlin, Heather M."'
Search Results
2. High Prevalence Of Cardiac Findings In Individuals With Fabry Disease Identified Via No-Charge Sponsored Testing Programs
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Rotse, Biliana O Veleva, primary, Giuliano, Joseph G, additional, McPherson, Katherine L, additional, Willcock, Andrew T, additional, and McLaughlin, Heather M, additional
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- 2023
- Full Text
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3. Canonical and ETT-mediated auxin signalling pathways synergistically promote gynoecium development inArabidopsis thaliana
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McLaughlin, Heather M., primary, Natarajan, Bhavani, additional, and Østergaard, Lars, additional
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- 2023
- Full Text
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4. High prevalence of cardiac findings in individuals with Fabry disease identified via no-charge sponsored testing programs
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Veleva-Rotse, Biliana O., primary, Giuliano, Joseph D., additional, McPherson, Katherine L., additional, Willcock, Andrew T., additional, and McLaughlin, Heather M., additional
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- 2023
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5. List of Contributors
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Allison, Kimberly H., primary, Allyse, Megan A., additional, Arcenas, Rodney C., additional, Bartel, Michael J., additional, Behdad, Amir, additional, Bennett, Katie M., additional, Berg, Jonathan S., additional, Best, D. Hunter, additional, Betz, Bryan L., additional, Booker, Jessica K., additional, Borowski, Kristi S., additional, Bourlet, Thomas, additional, Brissot, Pierre, additional, Brown, Noah A., additional, Bula, Marcin, additional, Caprioli, Richard M., additional, Chakraborty, Subhankar, additional, Coleman, William B., additional, Crooks, Kristy R., additional, Dong, Jianli, additional, Drabkin, Harry A., additional, Duncan, Daniel L., additional, Fareed, Jawed, additional, Ferreira-Gonzalez, Andrea, additional, Funke, Birgit H., additional, Furtado, Larissa V., additional, Gallinella, Giorgio, additional, Gonzalo, Sonzalo, additional, Grattard, Florence, additional, Gutierrez, Danielle B., additional, Haskell, Gloria T., additional, Hedayat, Amin A., additional, Highsmith, W. Edward, additional, Hsiao, Susan J., additional, Iqbal, Omer, additional, Ismail, Nahed, additional, Jouanolle, Anne-Marie, additional, Kerr, Sarah E., additional, Loréal, Olivier, additional, McLaughlin, Heather M., additional, Memmi, Meriam, additional, Michalak, Tomasz I., additional, Miller, Melissa B., additional, Mulrooney-Cousins, Patricia M., additional, Nikiforov, Yuri E., additional, Norris, Jeremy L., additional, Patel, Nirali M., additional, Perrotta, Peter L., additional, Pinsky, Benjamin A., additional, Pirmohamed, Munir, additional, Plongla, Rongpong, additional, Pozzetto, Bruno, additional, Pratt, Victoria M., additional, Procop, Gary W., additional, Raimondo, Massimo, additional, Rao, ✠Kathleen W., additional, Scott, Stuart A., additional, Shi, Chanjuan, additional, Shiau, Carolyn J., additional, Si, Yue, additional, Smith, Steven C., additional, Smolkin, Matthew B., additional, Stellrecht, Kathleen A., additional, Tan, Susanna K., additional, Thomas, Jessica S., additional, Tomlins, Scott A., additional, Trembath, Dimitri G., additional, Tsao, Ming-Sound, additional, Tsongalis, Gregory J., additional, Turner, Richard M., additional, Turner, Scott A., additional, Udager, Aaron M., additional, Verhoeven, Paul, additional, Walker, David H., additional, Wick, Myra J., additional, Willoughby, Kathryn, additional, Yan, Shaofeng, additional, and Yen-Lieberman, Belinda, additional
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- 2017
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6. Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders
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McLaughlin, Heather M., primary, Clarke, Michele, additional, Crosby, Kathleen, additional, Furgerson, Matthew, additional, Leal-Pardinas, Fernanda, additional, Mitchell, Asia, additional, Pappadakis, Jennifer A., additional, Solyom, Alexander, additional, Tress, Jenna, additional, and Johnson, Britt A., additional
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- 2022
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7. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
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Tremblay-Laganière, Camille, primary, Maroofian, Reza, additional, Nguyen, Thi Tuyet Mai, additional, Karimiani, Ehsan Ghayoor, additional, Kirmani, Salman, additional, Akbar, Fizza, additional, Ibrahim, Shahnaz, additional, Afroze, Bushra, additional, Doosti, Mohammad, additional, Ashrafzadeh, Farah, additional, Babaei, Meisam, additional, Efthymiou, Stephanie, additional, Christoforou, Marilena, additional, Sultan, Tipu, additional, Ladda, Roger L., additional, McLaughlin, Heather M., additional, Truty, Rebecca, additional, Mahida, Sonal, additional, Cohen, Julie S., additional, Baranano, Kristin, additional, Ismail, Fatima Y., additional, Patel, Millan S., additional, Lehman, Anna, additional, Edmondson, Andrew C., additional, Nagy, Amanda, additional, Walker, Melissa A., additional, Mercimek-Andrews, Saadet, additional, Maki, Yuta, additional, Sachdev, Rani, additional, Macintosh, Rebecca, additional, Palmer, Elizabeth E., additional, Mancini, Grazia M.S., additional, Barakat, Tahsin Stefan, additional, Steinfeld, Robert, additional, Rüsch, Christina T., additional, Stettner, Georg M., additional, Wagner, Matias, additional, Wortmann, Saskia B., additional, Kini, Usha, additional, Brady, Angela F., additional, Stals, Karen L., additional, Ismayilova, Naila, additional, Ellard, Sian, additional, Bernardo, Danilo, additional, Nugent, Kimberly, additional, McLean, Scott D., additional, Antonarakis, Stylianos E., additional, Houlden, Henry, additional, Kinoshita, Taroh, additional, Campeau, Philippe M., additional, and Murakami, Yoshiko, additional
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- 2021
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8. Syndromic neurodevelopmental disorder associated with de novo variants inDDX23
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Burns, William, primary, Bird, Lynne M., additional, Heron, Delphine, additional, Keren, Boris, additional, Ramachandra, Divya, additional, Thiffault, Isabelle, additional, Del Viso, Florencia, additional, Amudhavalli, Shivarajan, additional, Engleman, Kendra, additional, Parenti, Ilaria, additional, Kaiser, Frank J., additional, Wierzba, Jolanta, additional, Riedhammer, Korbinian M., additional, Liptay, Susanne, additional, Zadeh, Neda, additional, Porrmann, Joseph, additional, Fischer, Andrea, additional, Gößwein, Sophie, additional, McLaughlin, Heather M., additional, Telegrafi, Aida, additional, Langley, Katherine G., additional, Steet, Richard, additional, Louie, Raymond J., additional, and Lyons, Michael J., additional
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- 2021
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9. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional
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- 2021
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10. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional
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- 2021
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11. Direct ETTIN-auxin interaction controls chromatin states in gynoecium development
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Kuhn, André, primary, Ramans Harborough, Sigurd, additional, McLaughlin, Heather M, additional, Natarajan, Bhavani, additional, Verstraeten, Inge, additional, Friml, Jiří, additional, Kepinski, Stefan, additional, and Østergaard, Lars, additional
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- 2020
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12. Author response: Direct ETTIN-auxin interaction controls chromatin states in gynoecium development
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Kuhn, André, primary, Ramans Harborough, Sigurd, additional, McLaughlin, Heather M, additional, Natarajan, Bhavani, additional, Verstraeten, Inge, additional, Friml, Jiří, additional, Kepinski, Stefan, additional, and Østergaard, Lars, additional
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- 2020
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13. Direct ETTIN-auxin interaction controls chromatin state in gynoecium development
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Kuhn, André, primary, Harborough, Sigurd Ramans, additional, McLaughlin, Heather M., additional, Kepinski, Stefan, additional, and Østergaard, Lars, additional
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- 2019
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14. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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O’Donnell-Luria, Anne H., primary, Pais, Lynn S., additional, Faundes, Víctor, additional, Wood, Jordan C., additional, Sveden, Abigail, additional, Luria, Victor, additional, Abou Jamra, Rami, additional, Accogli, Andrea, additional, Amburgey, Kimberly, additional, Anderlid, Britt Marie, additional, Azzarello-Burri, Silvia, additional, Basinger, Alice A., additional, Bianchini, Claudia, additional, Bird, Lynne M., additional, Buchert, Rebecca, additional, Carre, Wilfrid, additional, Ceulemans, Sophia, additional, Charles, Perrine, additional, Cox, Helen, additional, Culliton, Lisa, additional, Currò, Aurora, additional, Demurger, Florence, additional, Dowling, James J., additional, Duban-Bedu, Benedicte, additional, Dubourg, Christèle, additional, Eiset, Saga Elise, additional, Escobar, Luis F., additional, Ferrarini, Alessandra, additional, Haack, Tobias B., additional, Hashim, Mona, additional, Heide, Solveig, additional, Helbig, Katherine L., additional, Helbig, Ingo, additional, Heredia, Raul, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jonasson, Amy R., additional, Joset, Pascal, additional, Keren, Boris, additional, Kok, Fernando, additional, Kroes, Hester Y., additional, Lavillaureix, Alinoë, additional, Lu, Xin, additional, Maas, Saskia M., additional, Maegawa, Gustavo H.B., additional, Marcelis, Carlo L.M., additional, Mark, Paul R., additional, Masruha, Marcelo R., additional, McLaughlin, Heather M., additional, McWalter, Kirsty, additional, Melchinger, Esther U., additional, Mercimek-Andrews, Saadet, additional, Nava, Caroline, additional, Pendziwiat, Manuela, additional, Person, Richard, additional, Ramelli, Gian Paolo, additional, Ramos, Luiza L.P., additional, Rauch, Anita, additional, Reavey, Caitlin, additional, Renieri, Alessandra, additional, Rieß, Angelika, additional, Sanchez-Valle, Amarilis, additional, Sattar, Shifteh, additional, Saunders, Carol, additional, Schwarz, Niklas, additional, Smol, Thomas, additional, Srour, Myriam, additional, Steindl, Katharina, additional, Syrbe, Steffen, additional, Taylor, Jenny C., additional, Telegrafi, Aida, additional, Thiffault, Isabelle, additional, Trauner, Doris A., additional, van der Linden, Helio, additional, van Koningsbruggen, Silvana, additional, Villard, Laurent, additional, Vogel, Ida, additional, Vogt, Julie, additional, Weber, Yvonne G., additional, Wentzensen, Ingrid M., additional, Widjaja, Elysa, additional, Zak, Jaroslav, additional, Baxter, Samantha, additional, Banka, Siddharth, additional, Rodan, Lance H., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clayton-Smith, Jill, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Morton, Jenny, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and Hurles, Matthew E., additional
- Published
- 2019
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15. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study
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Lane, William J, primary, Westhoff, Connie M, additional, Gleadall, Nicholas S, additional, Aguad, Maria, additional, Smeland-Wagman, Robin, additional, Vege, Sunitha, additional, Simmons, Daimon P, additional, Mah, Helen H, additional, Lebo, Matthew S, additional, Walter, Klaudia, additional, Soranzo, Nicole, additional, Di Angelantonio, Emanuele, additional, Danesh, John, additional, Roberts, David J, additional, Watkins, Nick A, additional, Ouwehand, Willem H, additional, Butterworth, Adam S, additional, Kaufman, Richard M, additional, Rehm, Heidi L, additional, Silberstein, Leslie E, additional, Green, Robert C, additional, Bates, David W., additional, Blout, Carrie, additional, Christensen, Kurt D., additional, Cirino, Allison L., additional, Ho, Carolyn Y., additional, Krier, Joel B., additional, Lehmann, Lisa S., additional, MacRae, Calum A., additional, Morton, Cynthia C., additional, Perry, Denise L., additional, Seidman, Christine E., additional, Sunyaev, Shamil R., additional, Vassy, Jason L., additional, Schonman, Erica, additional, Nguyen, Tiffany, additional, Steffens, Eleanor, additional, Betting, Wendi Nicole, additional, Aronson, Samuel J., additional, Ceyhan-Birsoy, Ozge, additional, Machini, Kalotina, additional, McLaughlin, Heather M., additional, Azzariti, Danielle R., additional, Tsai, Ellen A., additional, Blumenthal-Barby, Jennifer, additional, Feuerman, Lindsay Z., additional, McGuire, Amy L., additional, Lee, Kaitlyn, additional, Robinson, Jill O., additional, Slashinski, Melody J., additional, Diamond, Pamela M., additional, Davis, Kelly, additional, Ubel, Peter A., additional, Kraft, Peter, additional, Roberts, J. Scott, additional, Garber, Judy E., additional, Hambuch, Tina, additional, Murray, Michael F., additional, Kohane, Isaac, additional, and Kong, Sek Won, additional
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- 2018
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16. TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
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Suzuki, Yoshiro, primary, Chitayat, David, additional, Sawada, Hirotake, additional, Deardorff, Matthew A., additional, McLaughlin, Heather M., additional, Begtrup, Amber, additional, Millar, Kathryn, additional, Harrington, Jennifer, additional, Chong, Karen, additional, Roifman, Maian, additional, Grand, Katheryn, additional, Tominaga, Makoto, additional, Takada, Fumio, additional, Shuster, Shirley, additional, Obara, Megumi, additional, Mutoh, Hiroshi, additional, Kushima, Reiko, additional, and Nishimura, Gen, additional
- Published
- 2018
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17. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
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O’Daniel, Julianne M., primary, McLaughlin, Heather M., additional, Amendola, Laura M., additional, Bale, Sherri J., additional, Berg, Jonathan S., additional, Bick, David, additional, Bowling, Kevin M., additional, Chao, Elizabeth C., additional, Chung, Wendy K., additional, Conlin, Laura K., additional, Cooper, Gregory M., additional, Das, Soma, additional, Deignan, Joshua L., additional, Dorschner, Michael O., additional, Evans, James P., additional, Ghazani, Arezou A., additional, Goddard, Katrina A., additional, Gornick, Michele, additional, Farwell Hagman, Kelly D., additional, Hambuch, Tina, additional, Hegde, Madhuri, additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Jarvik, Gail P., additional, Knight Johnson, Amy, additional, Mighion, Lindsey, additional, Morra, Massimo, additional, Plon, Sharon E., additional, Punj, Sumit, additional, Richards, C. Sue, additional, Santani, Avni, additional, Shirts, Brian H., additional, Spinner, Nancy B., additional, Tang, Sha, additional, Weck, Karen E., additional, Wolf, Susan M., additional, Yang, Yaping, additional, and Rehm, Heidi L., additional
- Published
- 2017
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18. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
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Shashi, Vandana, primary, Pena, Loren D.M., additional, Kim, Katherine, additional, Burton, Barbara, additional, Hempel, Maja, additional, Schoch, Kelly, additional, Walkiewicz, Magdalena, additional, McLaughlin, Heather M., additional, Cho, Megan, additional, Stong, Nicholas, additional, Hickey, Scott E., additional, Shuss, Christine M., additional, Freemark, Michael S., additional, Bellet, Jane S., additional, Keels, Martha Ann, additional, Bonner, Melanie J., additional, El-Dairi, Maysantoine, additional, Butler, Megan, additional, Kranz, Peter G., additional, Stumpel, Constance T.R.M., additional, Klinkenberg, Sylvia, additional, Oberndorff, Karin, additional, Alawi, Malik, additional, Santer, Rene, additional, Petrovski, Slavé, additional, Kuismin, Outi, additional, Korpi-Heikkilä, Satu, additional, Pietilainen, Olli, additional, Aarno, Palotie, additional, Kurki, Mitja I., additional, Hoischen, Alexander, additional, Need, Anna C., additional, Goldstein, David B., additional, and Kortüm, Fanny, additional
- Published
- 2017
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19. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
- Author
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Harel, Tamar, primary, Yoon, Wan Hee, additional, Garone, Caterina, additional, Gu, Shen, additional, Coban-Akdemir, Zeynep, additional, Eldomery, Mohammad K., additional, Posey, Jennifer E., additional, Jhangiani, Shalini N., additional, Rosenfeld, Jill A., additional, Cho, Megan T., additional, Fox, Stephanie, additional, Withers, Marjorie, additional, Brooks, Stephanie M., additional, Chiang, Theodore, additional, Duraine, Lita, additional, Erdin, Serkan, additional, Yuan, Bo, additional, Shao, Yunru, additional, Moussallem, Elie, additional, Lamperti, Costanza, additional, Donati, Maria A., additional, Smith, Joshua D., additional, McLaughlin, Heather M., additional, Eng, Christine M., additional, Walkiewicz, Magdalena, additional, Xia, Fan, additional, Pippucci, Tommaso, additional, Magini, Pamela, additional, Seri, Marco, additional, Zeviani, Massimo, additional, Hirano, Michio, additional, Hunter, Jill V., additional, Srour, Myriam, additional, Zanigni, Stefano, additional, Lewis, Richard Alan, additional, Muzny, Donna M., additional, Lotze, Timothy E., additional, Boerwinkle, Eric, additional, Gibbs, Richard A., additional, Hickey, Scott E., additional, Graham, Brett H., additional, Yang, Yaping, additional, Buhas, Daniela, additional, Martin, Donna M., additional, Potocki, Lorraine, additional, Graziano, Claudio, additional, Bellen, Hugo J., additional, and Lupski, James R., additional
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- 2016
- Full Text
- View/download PDF
20. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
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Shashi, Vandana, primary, Pena, Loren D.M., additional, Kim, Katherine, additional, Burton, Barbara, additional, Hempel, Maja, additional, Schoch, Kelly, additional, Walkiewicz, Magdalena, additional, McLaughlin, Heather M., additional, Cho, Megan, additional, Stong, Nicholas, additional, Hickey, Scott E., additional, Shuss, Christine M., additional, Freemark, Michael S., additional, Bellet, Jane S., additional, Keels, Martha Ann, additional, Bonner, Melanie J., additional, El-Dairi, Maysantoine, additional, Butler, Megan, additional, Kranz, Peter G., additional, Stumpel, Constance T.R.M., additional, Klinkenberg, Sylvia, additional, Oberndorff, Karin, additional, Alawi, Malik, additional, Santer, Rene, additional, Petrovski, Slavé, additional, Kuismin, Outi, additional, Korpi-Heikkilä, Satu, additional, Pietilainen, Olli, additional, Aarno, Palotie, additional, Kurki, Mitja I., additional, Hoischen, Alexander, additional, Need, Anna C., additional, Goldstein, David B., additional, Kortüm, Fanny, additional, Bacino, A., additional, Lee, Brendan H., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lewis, Richard A., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Scott, Daryl A., additional, Hanchard, Neil A., additional, Alyssa, Tran A., additional, Mercedes, Alejandro E., additional, Mashid, Azamian S., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Wangler, Michael F., additional, Westerfield, Monte, additional, Postlethwait, John H., additional, Eng, Christine M., additional, Yang, Yaping, additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Ramoni, Rachel B., additional, McCray, Alexa T., additional, Kohane, Issac S., additional, Holm, Ingrid A., additional, Might, Matthew, additional, Mazur, Paul, additional, Splinter, Kimberly, additional, Esteves, Cecilia, additional, Shashi, Vandana, additional, Jiang, Yong-hui, additional, McConkie-Rosell, Allyn, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Loscalzo, Joseph, additional, MacRae, Calum A., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Maas, Richard L., additional, Krier, Joel B., additional, Rodan, Lance H., additional, Walsh, Chris A., additional, Cooper, Cynthia M., additional, Pallais, Juan C., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Lincoln, Sharyn A., additional, Briere, Lauren C., additional, Jacob, Howard J., additional, Worthey, Elizabeth A., additional, Lazar, Joe, additional, Strong, Kim A., additional, Handley, Lori H., additional, Newberry, J. Scott, additional, Bick, David P., additional, Schroeder, Molly C., additional, Brown, Donna M., additional, Birch, Camille L., additional, Levy, Shawn E., additional, Boone, Braden E., additional, Dorset, Dan C., additional, Jones, Angela L., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Iglesias, Brenda, additional, Martin, Casey, additional, Koeller, David M., additional, Metz, Thomas O., additional, Ashley, Euan A., additional, Fisher, Paul G., additional, Bernstein, Jonathan A., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Waggott, Daryl M., additional, Dries, Annika M., additional, Kohler, Jennefer N., additional, Dipple, Katrina M., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Vilain, Eric, additional, Allard, Patrick, additional, Dell Angelica, Esteban C., additional, Lee, Hane, additional, Sinsheimer, Janet S., additional, Papp, Jeanette C., additional, Dorrani, Naghmeh, additional, Herzog, Matthew R., additional, Barseghyan, Hayk, additional, Adams, David R., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gahl, William A., additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary G., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, Chyau Yueh C., additional, Lee, Paul R., additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Malicdan, May V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Soldatos, Ariane G., additional, Thomas, Sara P., additional, Tifft, Cynthia J., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Wolfe, Lynne A., additional, Yu, Guoyun, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, and Cogan, Joy D., additional
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- 2016
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21. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
- Author
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Ma, Lijiang, primary, Bayram, Yavuz, additional, McLaughlin, Heather M., additional, Cho, Megan T., additional, Krokosky, Alyson, additional, Turner, Clesson E., additional, Lindstrom, Kristin, additional, Bupp, Caleb P., additional, Mayberry, Katey, additional, Mu, Weiyi, additional, Bodurtha, Joann, additional, Weinstein, Veronique, additional, Zadeh, Neda, additional, Alcaraz, Wendy, additional, Powis, Zöe, additional, Shao, Yunru, additional, Scott, Daryl A., additional, Lewis, Andrea M., additional, White, Janson J., additional, Jhangiani, Shalani N., additional, Gulec, Elif Yilmaz, additional, Lalani, Seema R., additional, Lupski, James R., additional, Retterer, Kyle, additional, Schnur, Rhonda E., additional, Wentzensen, Ingrid M., additional, Bale, Sherri, additional, and Chung, Wendy K., additional
- Published
- 2016
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- View/download PDF
22. Health Care Infrastructure for Financially Sustainable Clinical Genomics
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Lennerz, Jochen K., primary, McLaughlin, Heather M., additional, Baron, Jason M., additional, Rasmussen, David, additional, Sumbada Shin, Meini, additional, Berners-Lee, Nancy, additional, Miller Batten, Julie, additional, Swoboda, Kathryn J., additional, Gala, Manish K., additional, Winter, Harland S., additional, Schmahmann, Jeremy D., additional, Sweetser, David A., additional, Boswell, Marianne, additional, Pacula, Maciej, additional, Stenzinger, Albrecht, additional, Le, Long P., additional, Hynes, William, additional, Rehm, Heidi L., additional, Klibanski, Anne, additional, Black-Schaffer, Stephen W., additional, Golden, Jeffrey A., additional, Louis, David N., additional, Weiss, Scott T., additional, and Iafrate, A. John, additional
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- 2016
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- View/download PDF
23. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
- Author
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Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional
- Published
- 2016
- Full Text
- View/download PDF
24. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- Author
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Amendola, Laura M., primary, Jarvik, Gail P., additional, Leo, Michael C., additional, McLaughlin, Heather M., additional, Akkari, Yassmine, additional, Amaral, Michelle D., additional, Berg, Jonathan S., additional, Biswas, Sawona, additional, Bowling, Kevin M., additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Dorschner, Michael O., additional, Dulik, Matthew C., additional, Ghazani, Arezou A., additional, Ghosh, Rajarshi, additional, Green, Robert C., additional, Hart, Ragan, additional, Horton, Carrie, additional, Johnston, Jennifer J., additional, Lebo, Matthew S., additional, Milosavljevic, Aleksandar, additional, Ou, Jeffrey, additional, Pak, Christine M., additional, Patel, Ronak Y., additional, Punj, Sumit, additional, Richards, Carolyn Sue, additional, Salama, Joseph, additional, Strande, Natasha T., additional, Yang, Yaping, additional, Plon, Sharon E., additional, Biesecker, Leslie G., additional, and Rehm, Heidi L., additional
- Published
- 2016
- Full Text
- View/download PDF
25. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
- Author
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Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional
- Published
- 2016
- Full Text
- View/download PDF
26. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- Author
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Amendola, Laura M., primary, Jarvik, Gail P., additional, Leo, Michael C., additional, McLaughlin, Heather M., additional, Akkari, Yassmine, additional, Amaral, Michelle D., additional, Berg, Jonathan S., additional, Biswas, Sawona, additional, Bowling, Kevin M., additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Dorschner, Michael O., additional, Dulik, Matthew C., additional, Ghazani, Arezou A., additional, Ghosh, Rajarshi, additional, Green, Robert C., additional, Hart, Ragan, additional, Horton, Carrie, additional, Johnston, Jennifer J., additional, Lebo, Matthew S., additional, Milosavljevic, Aleksandar, additional, Ou, Jeffrey, additional, Pak, Christine M., additional, Patel, Ronak Y., additional, Punj, Sumit, additional, Richards, Carolyn Sue, additional, Salama, Joseph, additional, Strande, Natasha T., additional, Yang, Yaping, additional, Plon, Sharon E., additional, Biesecker, Leslie G., additional, and Rehm, Heidi L., additional
- Published
- 2016
- Full Text
- View/download PDF
27. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
- Author
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Alfares, Ahmed A., primary, Kelly, Melissa A., additional, McDermott, Gregory, additional, Funke, Birgit H., additional, Lebo, Matthew S., additional, Baxter, Samantha B., additional, Shen, Jun, additional, McLaughlin, Heather M., additional, Clark, Eugene H., additional, Babb, Larry J., additional, Cox, Stephanie W., additional, DePalma, Steven R., additional, Ho, Carolyn Y., additional, Seidman, J.G., additional, Seidman, Christine E., additional, and Rehm, Heidi L., additional
- Published
- 2015
- Full Text
- View/download PDF
28. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- Author
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Brownstein, Catherine A, primary, Beggs, Alan H, additional, Homer, Nils, additional, Merriman, Barry, additional, Yu, Timothy W, additional, Flannery, Katherine C, additional, DeChene, Elizabeth T, additional, Towne, Meghan C, additional, Savage, Sarah K, additional, Price, Emily N, additional, Holm, Ingrid A, additional, Luquette, Lovelace J, additional, Lyon, Elaine, additional, Majzoub, Joseph, additional, Neupert, Peter, additional, McCallie Jr, David, additional, Szolovits, Peter, additional, Willard, Huntington F, additional, Mendelsohn, Nancy J, additional, Temme, Renee, additional, Finkel, Richard S, additional, Yum, Sabrina W, additional, Medne, Livija, additional, Sunyaev, Shamil R, additional, Adzhubey, Ivan, additional, Cassa, Christopher A, additional, de Bakker, Paul IW, additional, Duzkale, Hatice, additional, Dworzyński, Piotr, additional, Fairbrother, William, additional, Francioli, Laurent, additional, Funke, Birgit H, additional, Giovanni, Monica A, additional, Handsaker, Robert E, additional, Lage, Kasper, additional, Lebo, Matthew S, additional, Lek, Monkol, additional, Leshchiner, Ignaty, additional, MacArthur, Daniel G, additional, McLaughlin, Heather M, additional, Murray, Michael F, additional, Pers, Tune H, additional, Polak, Paz P, additional, Raychaudhuri, Soumya, additional, Rehm, Heidi L, additional, Soemedi, Rachel, additional, Stitziel, Nathan O, additional, Vestecka, Sara, additional, Supper, Jochen, additional, Gugenmus, Claudia, additional, Klocke, Bernward, additional, Hahn, Alexander, additional, Schubach, Max, additional, Menzel, Mortiz, additional, Biskup, Saskia, additional, Freisinger, Peter, additional, Deng, Mario, additional, Braun, Martin, additional, Perner, Sven, additional, Smith, Richard JH, additional, Andorf, Janeen L, additional, Huang, Jian, additional, Ryckman, Kelli, additional, Sheffield, Val C, additional, Stone, Edwin M, additional, Bair, Thomas, additional, Black-Ziegelbein, E, additional, Braun, Terry A, additional, Darbro, Benjamin, additional, DeLuca, Adam P, additional, Kolbe, Diana L, additional, Scheetz, Todd E, additional, Shearer, Aiden E, additional, Sompallae, Rama, additional, Wang, Kai, additional, Bassuk, Alexander G, additional, Edens, Erik, additional, Mathews, Katherine, additional, Moore, Steven A, additional, Shchelochkov, Oleg A, additional, Trapane, Pamela, additional, Bossler, Aaron, additional, Campbell, Colleen A, additional, Heusel, Jonathan W, additional, Kwitek, Anne, additional, Maga, Tara, additional, Panzer, Karin, additional, Wassink, Thomas, additional, Van Daele, Douglas, additional, Azaiez, Hela, additional, Booth, Kevin, additional, Meyer, Nic, additional, Segal, Michael M, additional, Williams, Marc S, additional, Tromp, Gerard, additional, White, Peter, additional, Corsmeier, Donald, additional, Fitzgerald-Butt, Sara, additional, Herman, Gail, additional, Lamb-Thrush, Devon, additional, McBride, Kim L, additional, Newsom, David, additional, Pierson, Christopher R, additional, Rakowsky, Alexander T, additional, Maver, Aleš, additional, Lovrečić, Luca, additional, Palandačić, Anja, additional, Peterlin, Borut, additional, Torkamani, Ali, additional, Wedell, Anna, additional, Huss, Mikael, additional, Alexeyenko, Andrey, additional, Lindvall, Jessica M, additional, Magnusson, Måns, additional, Nilsson, Daniel, additional, Stranneheim, Henrik, additional, Taylan, Fulya, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, van Bon, Bregje, additional, Yntema, Helger, additional, Nelen, Marcel, additional, Zhang, Weidong, additional, Sager, Jason, additional, Zhang, Lu, additional, Blair, Kathryn, additional, Kural, Deniz, additional, Cariaso, Michael, additional, Lennon, Greg G, additional, Javed, Asif, additional, Agrawal, Saloni, additional, Ng, Pauline C, additional, Sandhu, Komal S, additional, Krishna, Shuba, additional, Veeramachaneni, Vamsi, additional, Isakov, Ofer, additional, Halperin, Eran, additional, Friedman, Eitan, additional, Shomron, Noam, additional, Glusman, Gustavo, additional, Roach, Jared C, additional, Caballero, Juan, additional, Cox, Hannah C, additional, Mauldin, Denise, additional, Ament, Seth A, additional, Rowen, Lee, additional, Richards, Daniel R, additional, Lucas, F Anthony, additional, Gonzalez-Garay, Manuel L, additional, Caskey, C, additional, Bai, Yu, additional, Huang, Ying, additional, Fang, Fang, additional, Zhang, Yan, additional, Wang, Zhengyuan, additional, Barrera, Jorge, additional, Garcia-Lobo, Juan M, additional, González-Lamuño, Domingo, additional, Llorca, Javier, additional, Rodriguez, Maria C, additional, Varela, Ignacio, additional, Reese, Martin G, additional, De La Vega, Francisco M, additional, Kiruluta, Edward, additional, Cargill, Michele, additional, Hart, Reece K, additional, Sorenson, Jon M, additional, Lyon, Gholson J, additional, Stevenson, David A, additional, Bray, Bruce E, additional, Moore, Barry M, additional, Eilbeck, Karen, additional, Yandell, Mark, additional, Zhao, Hongyu, additional, Hou, Lin, additional, Chen, Xiaowei, additional, Yan, Xiting, additional, Chen, Mengjie, additional, Li, Cong, additional, Yang, Can, additional, Gunel, Murat, additional, Li, Peining, additional, Kong, Yong, additional, Alexander, Austin C, additional, Albertyn, Zayed I, additional, Boycott, Kym M, additional, Bulman, Dennis E, additional, Gordon, Paul MK, additional, Innes, A, additional, Knoppers, Bartha M, additional, Majewski, Jacek, additional, Marshall, Christian R, additional, Parboosingh, Jillian S, additional, Sawyer, Sarah L, additional, Samuels, Mark E, additional, Schwartzentruber, Jeremy, additional, Kohane, Isaac S, additional, and Margulies, David M, additional
- Published
- 2014
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29. Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy
- Author
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McLaughlin, Heather M, primary, Kelly, Melissa A, additional, Hawley, Pamela P, additional, Darras, Basil T, additional, Funke, Birgit, additional, and Picker, Jonathan, additional
- Published
- 2013
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30. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
- Author
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Heeringa, Saskia F., primary, Chernin, Gil, additional, Chaki, Moumita, additional, Zhou, Weibin, additional, Sloan, Alexis J., additional, Ji, Ziming, additional, Xie, Letian X., additional, Salviati, Leonardo, additional, Hurd, Toby W., additional, Vega-Warner, Virginia, additional, Killen, Paul D., additional, Raphael, Yehoash, additional, Ashraf, Shazia, additional, Ovunc, Bugsu, additional, Schoeb, Dominik S., additional, McLaughlin, Heather M., additional, Airik, Rannar, additional, Vlangos, Christopher N., additional, Gbadegesin, Rasheed, additional, Hinkes, Bernward, additional, Saisawat, Pawaree, additional, Trevisson, Eva, additional, Doimo, Mara, additional, Casarin, Alberto, additional, Pertegato, Vanessa, additional, Giorgi, Gianpietro, additional, Prokisch, Holger, additional, Rötig, Agnès, additional, Nürnberg, Gudrun, additional, Becker, Christian, additional, Wang, Su, additional, Ozaltin, Fatih, additional, Topaloglu, Rezan, additional, Bakkaloglu, Aysin, additional, Bakkaloglu, Sevcan A., additional, Müller, Dominik, additional, Beissert, Antje, additional, Mir, Sevgi, additional, Berdeli, Afig, additional, ϖzen, Seza, additional, Zenker, Martin, additional, Matejas, Verena, additional, Santos-Ocaña, Carlos, additional, Navas, Placido, additional, Kusakabe, Takehiro, additional, Kispert, Andreas, additional, Akman, Sema, additional, Soliman, Neveen A., additional, Krick, Stefanie, additional, Mundel, Peter, additional, Reiser, Jochen, additional, Nürnberg, Peter, additional, Clarke, Catherine F., additional, Wiggins, Roger C., additional, Faul, Christian, additional, and Hildebrandt, Friedhelm, additional
- Published
- 2011
- Full Text
- View/download PDF
31. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
- Author
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Stum, Morgane, primary, McLaughlin, Heather M., additional, Kleinbrink, Erica L., additional, Miers, Kathy E., additional, Ackerman, Susan L., additional, Seburn, Kevin L., additional, Antonellis, Anthony, additional, and Burgess, Robert W., additional
- Published
- 2011
- Full Text
- View/download PDF
32. Pregnancy planning in women with pregestational diabetes
- Author
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Lipscombe, Lorraine L., primary, Mclaughlin, Heather M., additional, Wu, Wei, additional, and Feig, Denice S., additional
- Published
- 2011
- Full Text
- View/download PDF
33. Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
- Author
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McLaughlin, Heather M., primary, Sakaguchi, Reiko, additional, Liu, Cuiping, additional, Igarashi, Takao, additional, Pehlivan, Davut, additional, Chu, Kristine, additional, Iyer, Ram, additional, Cruz, Pedro, additional, Cherukuri, Praveen F., additional, Hansen, Nancy F., additional, Mullikin, James C., additional, Biesecker, Leslie G., additional, Wilson, Thomas E., additional, Ionasescu, Victor, additional, Nicholson, Garth, additional, Searby, Charles, additional, Talbot, Kevin, additional, Vance, Jeffrey M., additional, Züchner, Stephan, additional, Szigeti, Kinga, additional, Lupski, James R., additional, Hou, Ya-Ming, additional, Green, Eric D., additional, and Antonellis, Anthony, additional
- Published
- 2010
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34. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- Author
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Otto, Edgar A, primary, Hurd, Toby W, additional, Airik, Rannar, additional, Chaki, Moumita, additional, Zhou, Weibin, additional, Stoetzel, Corinne, additional, Patil, Suresh B, additional, Levy, Shawn, additional, Ghosh, Amiya K, additional, Murga-Zamalloa, Carlos A, additional, van Reeuwijk, Jeroen, additional, Letteboer, Stef J F, additional, Sang, Liyun, additional, Giles, Rachel H, additional, Liu, Qin, additional, Coene, Karlien L M, additional, Estrada-Cuzcano, Alejandro, additional, Collin, Rob W J, additional, McLaughlin, Heather M, additional, Held, Susanne, additional, Kasanuki, Jennifer M, additional, Ramaswami, Gokul, additional, Conte, Jinny, additional, Lopez, Irma, additional, Washburn, Joseph, additional, MacDonald, James, additional, Hu, Jinghua, additional, Yamashita, Yukiko, additional, Maher, Eamonn R, additional, Guay-Woodford, Lisa M, additional, Neumann, Hartmut P H, additional, Obermüller, Nicholas, additional, Koenekoop, Robert K, additional, Bergmann, Carsten, additional, Bei, Xiaoshu, additional, Lewis, Richard A, additional, Katsanis, Nicholas, additional, Lopes, Vanda, additional, Williams, David S, additional, Lyons, Robert H, additional, Dang, Chi V, additional, Brito, Daniela A, additional, Dias, Mónica Bettencourt, additional, Zhang, Xinmin, additional, Cavalcoli, James D, additional, Nürnberg, Gudrun, additional, Nürnberg, Peter, additional, Pierce, Eric A, additional, Jackson, Peter K, additional, Antignac, Corinne, additional, Saunier, Sophie, additional, Roepman, Ronald, additional, Dollfus, Helene, additional, Khanna, Hemant, additional, and Hildebrandt, Friedhelm, additional
- Published
- 2010
- Full Text
- View/download PDF
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