Direct ETTIN-auxin interaction controls chromatin states in gynoecium development
Kuhn, André, Ramans Harborough, Sigurd, McLaughlin, Heather M, Natarajan, Bhavani, Verstraeten, Inge, Friml, Jiří, Kepinski, Stefan, Østergaard, Lars
Published in eLife (08.04.2020)
Published in eLife (08.04.2020)
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Journal Article
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
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.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Journal Article
A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
Vester, Aimée, Velez-Ruiz, Gisselle, McLaughlin, Heather M., NISC Comparative Sequencing Program, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Roda, Ricardo H., Fischbeck, Kenneth H., Biesecker, Leslie G., Nicholson, Garth, Beg, Asim A., Antonellis, Anthony
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
Stum, Morgane, McLaughlin, Heather M., Kleinbrink, Erica L., Miers, Kathy E., Ackerman, Susan L., Seburn, Kevin L., Antonellis, Anthony, Burgess, Robert W.
Published in Molecular and cellular neuroscience (01.02.2011)
Published in Molecular and cellular neuroscience (01.02.2011)
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Journal Article
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Alfares, Ahmed A., Kelly, Melissa A., McDermott, Gregory, Funke, Birgit H., Lebo, Matthew S., Baxter, Samantha B., Shen, Jun, McLaughlin, Heather M., Clark, Eugene H., Babb, Larry J., Cox, Stephanie W., DePalma, Steven R., Ho, Carolyn Y., Seidman, J. G., Seidman, Christine E., Rehm, Heidi L.
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Journal Article
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
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.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
COL4A gene variants are common in children with hematuria and a family history of kidney disease
Rheault, Michelle N., McLaughlin, Heather M., Mitchell, Asia, Blake, Lauren E., Devarajan, Prasad, Warady, Bradley A., Gibson, Keisha L., Lieberman, Kenneth V.
Published in Pediatric nephrology (Berlin, West) (01.11.2023)
Published in Pediatric nephrology (Berlin, West) (01.11.2023)
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Journal Article
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
MacCarrick, Gretchen, Aradhya, Swaroop, Bailey, Mitch, Chu, Dorna, Hunt, Abigail, Izzo, Emanuela, Krakow, Deborah, Mackenzie, William, Poll, Sarah, Raggio, Cathleen, Shediac, Renée, White, Klane K., McLaughlin, Heather M., Seratti, Guillermo
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
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, Varpizen, 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
Published in The Journal of clinical investigation (01.05.2011)
Published in The Journal of clinical investigation (01.05.2011)
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Journal Article
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
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
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
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
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Journal Article
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
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., Knight Johnson, Amy, 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.
Published in Genetics in medicine (01.05.2017)
Published in Genetics in medicine (01.05.2017)
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Journal Article
A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)
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
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Journal Article
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
Burns, William, Bird, Lynne M., Heron, Delphine, Keren, Boris, Ramachandra, Divya, Thiffault, Isabelle, Del Viso, Florencia, Amudhavalli, Shivarajan, Engleman, Kendra, Parenti, Ilaria, Kaiser, Frank J., Wierzba, Jolanta, Riedhammer, Korbinian M., Liptay, Susanne, Zadeh, Neda, Porrmann, Joseph, Fischer, Andrea, Gößwein, Sophie, McLaughlin, Heather M., Telegrafi, Aida, Langley, Katherine G., Steet, Richard, Louie, Raymond J., Lyons, Michael J.
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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Journal Article
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
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
Published in Trials (20.03.2014)
Published in Trials (20.03.2014)
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Journal Article
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
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
Published in BMC genetics (14.12.2014)
Published in BMC genetics (14.12.2014)
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Journal Article
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson, Turner, Clesson E., Lindstrom, Kristin, Bupp, Caleb P., 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 M., Bale, Sherri, Chung, Wendy K.
Published in Human genetics (01.12.2016)
Published in Human genetics (01.12.2016)
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Journal Article
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
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
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
A One-Page Summary Report of Genome Sequencing for the Healthy Adult
Vassy, Jason L., McLaughlin, Heather L., 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.
Published in Community genetics (01.01.2015)
Published in Community genetics (01.01.2015)
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