Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

von Smith, Laurie D., Willig, Laurel K., Kingsmore, Stephen F.
Veröffentlicht in Cold Spring Harb Perspect Med (2016)

The role of sterol-C4-methyl oxidase in epidermal biology

von He, Miao, Smith, Laurie D., Chang, Richard, Li, Xueli, Vockley, Jerry
Veröffentlicht 2013

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

von Smith, Laurie D., Bainbridge, Matthew N., Parad, Richard B., Bhattacharjee, Arindam
Veröffentlicht in Int J Neonatal Screen (2020)

Rapid Whole Genome Sequencing and Precision Neonatology

von Petrikin, Joshua E., Willig, Laurel K., Smith, Laurie D., Kingsmore, Stephen F.
Veröffentlicht in Semin Perinatol (2015)

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

von Buelow, Markus, Süßmuth, David, Smith, Laurie D., Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen
Veröffentlicht in Eur J Hum Genet (2021)

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

von Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F
Veröffentlicht 2013

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

von Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.
Veröffentlicht in Genomics (2013)

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

von Lampe, Christina, Atherton, Andrea, Burton, Barbara K., Descartes, Maria, Giugliani, Roberto, Horovitz, Dafne D. G., Kyosen, Sandra O., Magalhães, Tatiana S. P. C., Martins, Ana Maria, Mendelsohn, Nancy J., Muenzer, Joseph, Smith, Laurie D.
Veröffentlicht 2014

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse

von Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.
Veröffentlicht in Hum Mutat (2015)

Clinical detection of deletion structural variants in whole-genome sequences

von Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Veröffentlicht in NPJ Genom Med (2016)

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

von Petrikin, Josh E., Cakici, Julie A., Clark, Michelle M., Willig, Laurel K., Sweeney, Nathaly M., Farrow, Emily G., Saunders, Carol J., Thiffault, Isabelle, Miller, Neil A., Zellmer, Lee, Herd, Suzanne M., Holmes, Anne M., Batalov, Serge, Veeraraghavan, Narayanan, Smith, Laurie D., Dimmock, David P., Leeder, J. Steven, Kingsmore, Stephen F.
Veröffentlicht in NPJ Genom Med (2018)

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

von Miller, Neil A., Farrow, Emily G., Gibson, Margaret, Willig, Laurel K., Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E., Saunders, Carol J., Thiffault, Isabelle, Soden, Sarah E., Smith, Laurie D., Dinwiddie, Darrell L., Herd, Suzanne, Cakici, Julie A., Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F.
Veröffentlicht in Genome Med (2015)

An integrated transcriptome and expressed variant analysis of sepsis survival and death

von Tsalik, Ephraim L, Langley, Raymond J, Dinwiddie, Darrell L, Miller, Neil A, Yoo, Byunggil, van Velkinburgh, Jennifer C, Smith, Laurie D, Thiffault, Isabella, Jaehne, Anja K, Valente, Ashlee M, Henao, Ricardo, Yuan, Xin, Glickman, Seth W, Rice, Brandon J, McClain, Micah T, Carin, Lawrence, Corey, G Ralph, Ginsburg, Geoffrey S, Cairns, Charles B, Otero, Ronny M, Fowler, Vance G, Rivers, Emanuel P, Woods, Christopher W, Kingsmore, Stephen F
Veröffentlicht in Genome Med (2014)

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

von Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F
Veröffentlicht in Lancet Respir Med (2015)

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

von Soden, Sarah E., Saunders, Carol J., Willig, Laurel K., Farrow, Emily G., Smith, Laurie D., Petrikin, Josh E., LePichon, Jean-Baptiste, Miller, Neil A., Thiffault, Isabelle, Dinwiddie, Darrell L., Twist, Greyson, Noll, Aaron, Heese, Bryce A., Zellmer, Lee, Atherton, Andrea M., Abdelmoity, Ahmed T., Safina, Nicole, Nyp, Sarah S., Zuccarelli, Britton, Larson, Ingrid A., Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A., Kingsmore, Stephen F.
Veröffentlicht in Sci Transl Med (2014)

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

von Guimier, Anne, Gabriel, George C., Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D., Klena, Nikolai T., Jimenez, Gina, Miller, Neil A., Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J., Baker, Candice N., Di Filippo, Sylvie, Peterson, Kevin A., Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D., Farrow, Emily G., Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A., Bonnet, Damien, Kingsmore, Stephen F., Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W., Gordon, Christopher T.
Veröffentlicht in Nat Genet (2015)

Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling.

von Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gecz, Jozef, Jolly, Lachlan A.
Veröffentlicht in Biol Psychiatry (2019)