Αποτελέσματα αναζήτησης - McLaughlin, Heather M

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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A One-Page Summary Report of Genome Sequencing for the Healthy Adult από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A systematic approach to the reporting of medically relevant findings from whole genome sequencing από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Health Care Infrastructure for Financially Sustainable Clinical Genomics από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes από 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.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness από 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

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου