The Genomic landscape of short tandem repeats across multiple ancestries

por Vijayaraghavan, Prashanth, Batalov, Sergey, Ding, Yan, Sanford, Erica, Kingsmore, Stephen F., Dimmock, David, Hobbs, Charlotte, Bainbridge, Matthew
Publicado 2023

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

por Hildreth, Amber, Wigby, Kristen, Chowdhury, Shimul, Nahas, Shareef, Barea, Jaime, Ordonez, Paulina, Batalov, Sergey, Dimmock, David, Kingsmore, Stephen
Publicado 2017

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

por James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
Publicado 2020

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Publicado 2021

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Publicado 2021

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.
Publicado 2021

High Throughput Mutagenesis for Identification of Residues Regulating Human Prostacyclin (hIP) Receptor Expression and Function

por Bill, Anke, Rosethorne, Elizabeth M., Kent, Toby C., Fawcett, Lindsay, Burchell, Lynn, van Diepen, Michiel T., Marelli, Anthony, Batalov, Sergey, Miraglia, Loren, Orth, Anthony P., Renaud, Nicole A., Charlton, Steven J., Gosling, Martin, Gaither, L. Alex, Groot-Kormelink, Paul J.
Publicado 2014

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

por Owen, Mallory J., Wright, Meredith S., Batalov, Sergey, Kwon, Yonghyun, Ding, Yan, Chau, Kevin K., Chowdhury, Shimul, Sweeney, Nathaly M., Kiernan, Elizabeth, Richardson, Andrew, Batton, Emily, Baer, Rebecca J., Bandoli, Gretchen, Gleeson, Joseph G., Bainbridge, Matthew, Chambers, Christina D., Kingsmore, Stephen F.
Publicado 2023

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

por Ding, Yan, Owen, Mallory, Le, Jennie, Batalov, Sergey, Chau, Kevin, Kwon, Yong Hyun, Van Der Kraan, Lucita, Bezares-Orin, Zaira, Zhu, Zhanyang, Veeraraghavan, Narayanan, Nahas, Shareef, Bainbridge, Matthew, Gleeson, Joe, Baer, Rebecca J., Bandoli, Gretchen, Chambers, Christina, Kingsmore, Stephen F.
Publicado 2023

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

por Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay., Thomas
Publicado 2022

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

por Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.
Publicado 2022