In silico analyses of penicillin binding proteins in Burkholderia pseudomallei uncovers SNPs with utility for phylogeography, species differentiation, and sequence typing
McLaughlin, Heather P, Gulvik, Christopher A, Sue, David
Published in PLoS neglected tropical diseases (01.04.2022)
Published in PLoS neglected tropical diseases (01.04.2022)
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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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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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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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Systematic Review of In Vitro Antimicrobial Susceptibility Testing for Bacillus anthracis, 1947-2019
Maxson, Tucker, Kongphet-Tran, Thiphasone, Mongkolrattanothai, Thitipong, Travis, Tatiana, Hendricks, Katherine, Parker, Corinne, McLaughlin, Heather P, Bugrysheva, Julia, Ambrosio, Frank, Michel, Pierre, Cherney, Blake, Lascols, Christine, Sue, David
Published in Clinical infectious diseases (17.10.2022)
Published in Clinical infectious diseases (17.10.2022)
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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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Rapid Detection of Genetic Engineering, Structural Variation, and Antimicrobial Resistance Markers in Bacterial Biothreat Pathogens by Nanopore Sequencing
Gargis, Amy S., Cherney, Blake, Conley, Andrew B., McLaughlin, Heather P., Sue, David
Published in Scientific reports (18.09.2019)
Published in Scientific reports (18.09.2019)
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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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Carbohydrate catabolic diversity of bifidobacteria and lactobacilli of human origin
McLaughlin, Heather P., Motherway, Mary O'Connell, Lakshminarayanan, Bhuvaneswari, Stanton, Catherine, Paul Ross, R., Brulc, Jennifer, Menon, Ravi, O'Toole, Paul W., van Sinderen, Douwe
Published in International journal of food microbiology (16.06.2015)
Published in International journal of food microbiology (16.06.2015)
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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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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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Modifications to student quarantine policies in K–12 schools implementing multiple COVID-19 prevention strategies restores in-person education without increasing SARS-CoV-2 transmission risk, January-March 2021
Dawson, Patrick, Worrell, Mary Claire, Malone, Sara, Fritz, Stephanie A, McLaughlin, Heather P, Montgomery, Brock K, Boyle, Mary, Gomel, Ashley, Hayes, Samantha, Maricque, Brett, Lai, Albert M, Neidich, Julie A, Tinker, Sarah C, Lee, Justin S, Tong, Suxiang, Orscheln, Rachel C, Charney, Rachel, Rebmann, Terri, Mooney, Jon, Rains, Catherine, Yoon, Nancy, Petit, Machelle, Towns, Katie, Goddard, Clay, Schmidt, Spring, Barrios, Lisa C, Neatherlin, John C, Salzer, Johanna S, Newland, Jason G
Published in PloS one (20.10.2022)
Published in PloS one (20.10.2022)
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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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