Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

по Hiatt, Susan M., Lawlor, James M.J., Handley, Lori H., Ramaker, Ryne C., Rogers, Brianne B., Partridge, E. Christopher, Boston, Lori Beth, Williams, Melissa, Plott, Christopher B., Jenkins, Jerry, Gray, David E., Holt, James M., Bowling, Kevin M., Bebin, E. Martina, Grimwood, Jane, Schmutz, Jeremy, Cooper, Gregory M.
Опубликовано в: HGG Adv (2021)

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

по Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.
Опубликовано в: Am J Hum Genet (2019)

Genomic sequencing identifies secondary findings in a cohort of parent study participants

по Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Опубликовано в: Genet Med (2018)

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

по Cochran, J. Nicholas, McKinley, Emily C., Cochran, Meagan, Amaral, Michelle D., Moyers, Bryan A., Lasseigne, Brittany N., Gray, David E., Lawlor, James M.J., Prokop, Jeremy W., Geier, Ethan G., Holt, James M., Thompson, Michelle L., Newberry, J. Scott, Yokoyama, Jennifer S., Worthey, Elizabeth A., Geldmacher, David S., Love, Marissa Natelson, Cooper, Gregory M., Myers, Richard M., Roberson, Erik D.
Опубликовано в: Cold Spring Harb Mol Case Stud (2019)

Genomic diagnosis for children with intellectual disability and/or developmental delay

по Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Опубликовано в: Genome Med (2017)

Systematic reanalysis of genomic data improves quality of variant interpretation

по Hiatt, Susan M., Amaral, Michelle D., Bowling, Kevin M., Finnila, Candice R., Thompson, Michelle L., Gray, David E., Lawlor, James M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Lamb, Neil E., Levy, Shawn E., Lose, Edward J., Neu, Matthew B., Rich, Carla A., Simmons, Shirley, Myers, Richard M., Barsh, Gregory S., Cooper, Gregory M.
Опубликовано в: Clin Genet (2018)

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

по Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Опубликовано в: Genet Med (2017)