SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Authors: Wenger, Tara L. ^{1, 2}, Scott, Abbey ², Kruidenier, Lukas ², Sikes, Megan ², Keefe, Alexandra ^{1, 2}, Buckingham, Kati J. ¹, Marvin, Colby T. ¹, Shively, Kathryn M. ¹, Bacus, Tamara ¹, Sommerland, Olivia M. ¹, Anderson, Kailyn ¹, Gildersleeve, Heidi ¹, Davis, Chayna J. ¹, Love-Nichols, Jamie ², MacDuffie, Katherine E. ^{1, 4}, Miller, Danny E. ^{1, 2, 3, 5}, Yu, Joon-Ho ^{1, 4, 6}, Snook, Amy ⁷, Johnson, Britt ⁷, Veenstra, David L. ⁸, Parish-Morris, Julia ⁹, McWalter, Kirsty ⁷, Retterer, Kyle ^{7, 10}, Copenheaver, Deborah ⁷, Friedman, Bethany ⁷, Juusola, Jane ⁷, Ryan, Erin ⁷, Varga, Renee ⁷, Doherty, Daniel A. ^{1, 2, 3}, Dipple, Katrina ^{1, 2}, Chong, Jessica X. ^{1, 3}, Kruszka, Paul ⁷, Bamshad, Michael J. ^{1, 2, 3, ∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):508-522

Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies

Authors: Olson, Heather E., Demarest, Scott, Pestana‐Knight, Elia, Moosa, Ahsan N., Zhang, Xiaoming, Pérez‐Pérez, José R., Weisenberg, Judy, O'Connor Prange, Erin, Marsh, Eric D., Rajaraman, Rajsekar R., Suter, Bernhard, Katyayan, Akshat, Haviland, Isabel, Daniels, Carolyn, Zhang, Bo, Greene, Caitlin, DeLeo, Michelle, Swanson, Lindsay, Love‐Nichols, Jamie, Benke, Timothy, Harini, Chellamani, Poduri, Annapurna

Source: Epilepsia. 64(7):1821-1832

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187367615.0x000001&indx=1&recIds=ETOCvdc_100187367615.0x000001

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

Authors: Haviland, Isabel, Daniels, Carolyn I., Greene, Caitlin A., Drew, Jacqueline, Love-Nichols, Jamie A., Swanson, Lindsay C., Smith, Lacey, Nie, Duyu A., Benke, Timothy, Sheidley, Beth R., Zhang, Bo, Poduri, Annapurna, Olson, Heather E.

Source: Pediatric neurology. 138:71-80

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178467418.0x000001&indx=1&recIds=ETOCvdc_100178467418.0x000001

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Authors: Chopra, Maya, Gable, Dustin L., Love‐Nichols, Jamie, Tsao, Alexa, Rockowitz, Shira, Sliz, Piotr, Barkoudah, Elizabeth, Bastianelli, Lucia, Coulter, David, Davidson, Emily, DeGusmao, Claudio, Fogelman, David, Huth, Kathleen, Marshall, Paige, Nimec, Donna, Sanders, Jessica Solomon, Shore, Benjamin J., Snyder, Brian, Stone, Scellig S. D., Ubeda, Ana, Watkins, Colyn, Berde, Charles, Bolton, Jeffrey, Brownstein, Catherine, Costigan, Michael, Ebrahimi‐Fakhari, Darius, Lai, Abbe, O'Donnell‐Luria, Anne, Paciorkowski, Alex R., Pinto, Anna, Pugh, John, Rodan, Lance, Roe, Eugene, Swanson, Lindsay, Zhang, Bo, Kruer, Michael C., Sahin, Mustafa, Poduri, Annapurna, Srivastava, Siddharth

Source: Annals of clinical and translational neurology. 9(2):193-205

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141927324.0x000001&indx=1&recIds=ETOCvdc_100141927324.0x000001

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Authors: Farmer, Cristan A., Kaat, Aaron J., Thurm, Audrey, Anselm, Irina, Akshoomoff, Natacha, Bennett, Amanda, Berry, Leandra, Bruchey, Aleksandra, Barshop, Bruce A., Berry-Kravis, Elizabeth, Bianconi, Simona, Cecil, Kim M., Davis, Robert J., Ficicioglu, Can, Porter, Forbes D., Wainer, Allison, Goin-Kochel, Robin P., Leonczyk, Caroline, Guthrie, Whitney, Koeberl, Dwight, Love-Nichols, Jamie, Mamak, Eva, Mercimek-Andrews, Saadet, Thomas, Rebecca P., Spiridigliozzi, Gail A., Sullivan, Nancy, Sutton, Vernon R., Udhnani, Manisha D., Waisbren, Susan E., Miller, Judith S.

Source: American Journal on Intellectual and Developmental Disabilities. Nov 2020 125(6):475-480.

Peer Reviewed: Y

Page Count: 6

Descriptors: Developmental Disabilities, Norm Referenced Tests, Scores, Ability, Autism, Pervasive Developmental Disorders, Standardized Tests, Item Response Theory

A survey of aortic disease biorepository participants' preferences for return of research genetic results

Authors: Love‐Nichols, Jamie, Uhlmann, Wendy R., Arscott, Patricia, Willer, Cristen, Hornsby, Whitney, Roberts, J. Scott

Source: Journal of genetic counseling. 30(3):645-655

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122858562.0x000001&indx=1&recIds=ETOCvdc_100122858562.0x000001

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Authors: Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.

Source: In Genetics in Medicine November 2019 21(11):2413-2421

CDKL5 deficiency disorder and other infantile‐onset genetic epilepsies.

Authors: Daniels, Carolyn, Greene, Caitlin, Smith, Lacey, Pestana‐Knight, Elia, Demarest, Scott, Zhang, Bo, Benke, Timothy A., Poduri, Annapurna, Olson, Heather E., Swanson, Lindsay, Love‐Nichols, Jamie, El Achkar, Christelle Moufawad, Witt, Rochelle M, Kaufmann, Walter E, Lieberman, David N, Julich, Kristina, Srivastava, Siddharth, Nie, Duyu A, Zhang, Xiaoming, Moosa, Ahsan N

Source: Developmental Medicine & Child Neurology; Apr2024, Vol. 66 Issue 4, p456-468, 13p

Subject Terms: EPILEPSY, LENNOX-Gastaut syndrome, MOVEMENT disorders, FISHER exact test, SPASMS, VISION disorders

P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

Authors: Dipple, Katrina, Doherty, Daniel, Anderson, Kailyn, Sommers, Olivia, Wenger, Tara, MacDuffie, Kate, Keefe, Alexandra, Scott, Abbey, Kruidenier, Lukas, Love-Nichols, Jamie, Gildersleeve, Heidi, Davis, Chayna, Buckingham, Kati, Chong, Jessica, Veenstra, David, Miller, Danny, Copenheaver, Deborah, Juusola, Jane, Retterer, Kyle, McWalter, Kirsty, Kruszka, Paul, Yu, Joon-Ho, Bamshad, Michael

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Authors: Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.

Source: In Genetics in Medicine October 2020 22(10):1731-1732