Clinical evaluation and validation of laboratory methods for the diagnosis of Bordetella pertussis infection: Culture, polymerase chain reaction (PCR) and anti-pertussis toxin IgG... von Lee, Adria D, Cassiday, Pamela K, Pawloski, Lucia C, Tatti, Kathleen M, Martin, Monte D, Briere, Elizabeth C, Tondella, M Lucia, Martin, Stacey W

Volltext

Epidemiology of Invasive Haemophilus influenzae Serotype a Disease—United States, 2008–2017 von Soeters, Heidi M, Oliver, Sara E, Plumb, Ian D, Blain, Amy E, Zulz, Tammy, Simons, Brenna C, Barnes, Meghan, Farley, Monica M, Harrison, Lee H, Lynfield, Ruth, Massay, Stephanie, McLaughlin, Joseph, Muse, Alison G, Petit, Susan, Schaffner, William, Thomas, Ann, Torres, Salina, Watt, James, Pondo, Tracy, Whaley, Melissa J, Hu, Fang, Wang, Xin, Briere, Elizabeth C, Bruce, Michael G

Volltext

A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome von Lino Cardenas, Christian Lacks, Briere, Lauren C, Sweetser, David A, Lindsay, Mark E, Musolino, Patricia L

Volltext

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues von Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.

Volltext

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays von Pan, Xueyang, Alvarez, Albert N, Ma, Mengqi, Lu, Shenzhao, Crawford, Michael W, Briere, Lauren C, Kanca, Oguz, Yamamoto, Shinya, Sweetser, David A, Wilson, Jenny L, Napier, Ruth J, Pruneda, Jonathan N, Bellen, Hugo J

Volltext

Molecular Detection of 10 of the Most Unwanted Alien Forest Pathogens in Canada Using Real-Time PCR von Lamarche, Josyanne, Potvin, Amélie, Pelletier, Gervais, Stewart, Don, Feau, Nicolas, Alayon, Dario I O, Dale, Angela L, Coelho, Aaron, Uzunovic, Adnan, Bilodeau, Guillaume J, Brière, Stephan C, Hamelin, Richard C, Tanguay, Philippe

Volltext

Haemophilus haemolyticus Isolates Causing Clinical Disease von ANDERSON, Raydel, XIN WANG, BRIERE, Elizabeth C, KATZ, Lee S, COHN, Amanda C, CLARK, Thomas A, MESSONNIER, Nancy E, MAYER, Leonard W

Volltext

14-3-3-Regulated Ca2+-dependent protein kinase CPK3 is required for sphingolipid-induced cell death in Arabidopsis von Lachaud, C, Prigent, E, Thuleau, P, Grat, S, Da Silva, D, Brière, C, Mazars, C, Cotelle, V

Volltext

A description of novel variants and review of phenotypic spectrum in UBA5 -related early epileptic encephalopathy von Briere, Lauren C, Walker, Melissa A, High, Frances A, Cooper, Cynthia, Rogers, Cassandra A, Callahan, Christine J, Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A, Sharma, Nutan, Brokamp, Elly, Koziura, Mary E, Mohammad, Shekeeb S, Dale, Russell C, Riley, Lisa G, Phillips, John A, Komatsu, Masaaki, Sweetser, David A

Volltext

Bordetella holmesii Bacteremia Cases in the United States, April 2010–January 2011 von Tartof, Sara Y., Gounder, Prabhu, Weiss, Don, Lee, Lillian, Cassiday, Pamela K., Clark, Thomas A., Briere, Elizabeth C.

Volltext

Current Epidemiology and Trends in Invasive Haemophilus influenzae Disease-United States, 2009-2015 von Soeters, Heidi M, Blain, Amy, Pondo, Tracy, Doman, Brooke, Farley, Monica M, Harrison, Lee H, Lynfield, Ruth, Miller, Lisa, Petit, Susan, Reingold, Arthur, Schaffner, William, Thomas, Ann, Zansky, Shelley M, Wang, Xin, Briere, Elizabeth C

Volltext

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen... von Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.

Volltext

Effects of a nationwide Hib vaccine shortage on vaccination coverage in the United States von Santibanez, Tammy A, Shefer, Abigail, Briere, Elizabeth C, Cohn, Amanda C, Groom, Amy V

Volltext

Impact of Integration of Hygiene Kit Distribution With Routine Immunizations on Infant Vaccine Coverage and Water Treatment and Handwashing Practices of Kenyan Mothers von Briere, Elizabeth C., Ryman, Tove K., Cartwright, Emily, Russo, Elizabeth T., Wannemuehler, Kathleen A., Nygren, Benjamin L., Kola, Steve, Sadumah, Ibrahim, Ochieng, Cliff, Watkins, Margaret L., Quick, Robert

Volltext

Evaluating the PEM passive beach drainage system in a 4-year field experiment at Egmond (The Netherlands) von Walstra, D.J.R., Brière, C.D.E., Vonhögen-Peeters, L.M.

Volltext

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery von Haghighi, Alireza, Krier, Joel B., Toth-Petroczy, Agnes, Cassa, Christopher A., Frank, Natasha Y., Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C., Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A., Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J., Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B., Pantazi, Angeliki, Chopra, Sameer S., Leshchiner, Ignaty, Stitziel, Nathan O., Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A., Liao, Eric, Stoler, Joan M., Nowak, Catherine B., Sanchez-Lara, Pedro A., Klein, Ophir D., Perry, Hazel, Patsopoulos, Nikolaos A., Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C., Seidman, Christine E., MacRae, Calum A., Sunyaev, Shamil R., Maas, Richard L., Vuzman, Dana

Volltext

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster von Jangam, Sharayu V, Briere, Lauren C, Jay, Kristy L, Andrews, Jonathan C, Walker, Melissa A, Rodan, Lance H, High, Frances A, Yamamoto, Shinya, Sweetser, David A, Wangler, Michael F

Volltext

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism von Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

Volltext

Development and Validation of Polymorphic Microsatellite Loci for the NA2 Lineage of Phytophthora ramorum from Whole Genome Sequence Data von Gagnon, Marie-Claude, Feau, Nicolas, Dale, Angela L, Dhillon, Braham, Hamelin, Richard C, Brasier, Clive M, Grünwald, Niklaus J, Brière, Stephan C, Bilodeau, Guillaume J

Volltext

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment von Dutta, Debdeep, Briere, Lauren C, Kanca, Oguz, Marcogliese, Paul C, Walker, Melissa A, High, Frances A, Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J, Simons, Cas, Helman, Guy, Network, Undiagnosed Diseases, Wangler, Michael F, Yamamoto, Shinya, Sweetser, David A, Bellen, Hugo J

Volltext