Søgeresultater - McLaughlin, Heather M.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy af McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan

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Direct ETTIN-auxin interaction controls chromatin states in gynoecium development af Kuhn, André, Ramans Harborough, Sigurd, McLaughlin, Heather M, Natarajan, Bhavani, Verstraeten, Inge, Friml, Jiří, Kepinski, Stefan, Østergaard, Lars

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An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations af Stum, Morgane, McLaughlin, Heather M., Kleinbrink, Erica L., Miers, Kathy E., Ackerman, Susan L., Seburn, Kevin L., Antonellis, Anthony, Burgess, Robert W.

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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo af Vester, Aimee, Velez-Ruiz, Gisselle, McLaughlin, Heather M., Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Roda, Ricardo H., Fischbeck, Kenneth H., Biesecker, Leslie G., Nicholson, Garth, Beg, Asim, Antonellis, Anthony

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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) af McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina, Hou, Ya-Ming, Nicholson, Garth, Antonellis, Anthony

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A One-Page Summary Report of Genome Sequencing for the Healthy Adult af Vassy, Jason L., McLaughlin, Heather M., MacRae, Calum A., Seidman, Christine E., Lautenbach, Denise, Krier, Joel B., Lane, William J., Kohane, Isaac S., Murray, Michael F., McGuire, Amy L., Rehm, Heidi L., Green, Robert C.

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism af Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen

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A systematic approach to the reporting of medically relevant findings from whole genome sequencing af McLaughlin, Heather M, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Kohane, Isaac S, Krier, Joel, Lane, William J, Lautenbach, Denise, Lebo, Matthew S, Machini, Kalotina, MacRae, Calum A, Azzariti, Danielle R, Murray, Michael F, Seidman, Christine E, Vassy, Jason L, Green, Robert C, Rehm, Heidi L

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Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy af McLaughlin, Heather M., Sakaguchi, Reiko, Liu, Cuiping, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Züchner, Stephan, Szigeti, Kinga, Lupski, James R., Hou, Ya-Ming, Green, Eric D., Antonellis, Anthony

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The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine af Vassy, Jason L, Lautenbach, Denise M, McLaughlin, Heather M, Kong, Sek Won, Christensen, Kurt D, Krier, Joel, Kohane, Isaac S, Feuerman, Lindsay Z, Blumenthal-Barby, Jennifer, Roberts, J Scott, Lehmann, Lisa Soleymani, Ho, Carolyn Y, Ubel, Peter A, MacRae, Calum A, Seidman, Christine E, Murray, Michael F, McGuire, Amy L, Rehm, Heidi L, Green, Robert C

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures af Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.

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Health Care Infrastructure for Financially Sustainable Clinical Genomics af Lennerz, Jochen K., McLaughlin, Heather M., Baron, Jason M., Rasmussen, David, Sumbada Shin, Meini, Berners-Lee, Nancy, Miller Batten, Julie, Swoboda, Kathryn J., Gala, Manish K., Winter, Harland S., Schmahmann, Jeremy D., Sweetser, David A., Boswell, Marianne, Pacula, Maciej, Stenzinger, Albrecht, Le, Long P., Hynes, William, Rehm, Heidi L., Klibanski, Anne, Black-Schaffer, Stephen W., Golden, Jeffrey A., Louis, David N., Weiss, Scott T., Iafrate, A. John

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De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease af Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium af Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium af Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype af Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype af Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., Goldstein, David B., Kortüm, Fanny

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories af O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.

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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes af Harel, Tamar, Yoon, Wan Hee, Garone, Caterina, Gu, Shen, Coban-Akdemir, Zeynep, Eldomery, Mohammad K., Posey, Jennifer E., Jhangiani, Shalini N., Rosenfeld, Jill A., Cho, Megan T., Fox, Stephanie, Withers, Marjorie, Brooks, Stephanie M., Chiang, Theodore, Duraine, Lita, Erdin, Serkan, Yuan, Bo, Shao, Yunru, Moussallem, Elie, Lamperti, Costanza, Donati, Maria A., Smith, Joshua D., McLaughlin, Heather M., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Pippucci, Tommaso, Magini, Pamela, Seri, Marco, Zeviani, Massimo, Hirano, Michio, Hunter, Jill V., Srour, Myriam, Zanigni, Stefano, Lewis, Richard Alan, Muzny, Donna M., Lotze, Timothy E., Boerwinkle, Eric, Gibbs, Richard A., Hickey, Scott E., Graham, Brett H., Yang, Yaping, Buhas, Daniela, Martin, Donna M., Potocki, Lorraine, Graziano, Claudio, Bellen, Hugo J., Lupski, James R.

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness af Heeringa, Saskia F., Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J., Ji, Ziming, Xie, Letian X., Salviati, Leonardo, Hurd, Toby W., Vega-Warner, Virginia, Killen, Paul D., Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S., McLaughlin, Heather M., Airik, Rannar, Vlangos, Christopher N., Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A., Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, ϖzen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A., Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F., Wiggins, Roger C., Faul, Christian, Hildebrandt, Friedhelm

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