P125: Whole-genome sequencing in the NICU: Improving healthcare through precision medicine by Danielle Bonser, Martin Tristani-Firouzi, Rachel Palmquist, Sabrina Malone-Jenkins

Get full text

P166: Phenotypic profiles of rapid whole genome sequencing in pediatric patients: A single center study by Andrew Fontes, Rachel Palmquist, Erin Gosekampm, Sabrina Malone-Jenkins, Brian Shayota, Joshua Bonkowsky

Get full text

On the edge—A diagnostic odyssey by Hailey McLean, Rachel Palmquist, Lincoln D. Nadauld, Sabrina Malone Jenkins, Joshua Bonkowsky, Francis Filloux

Get full text

Comparison of levonorgestrel level and creamatocrit in milk following immediate versus delayed postpartum placement of the levonorgestrel IUD by Niaree G. Hopelian, Rebecca G. Simmons, Jessica N. Sanders, Katherine Ward, Sabrina Malone Jenkins, Eve Espey, David K. Turok

Get full text

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants by Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli

Get full text

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies by Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue Flores Daboub, Lorenzo D. Botto, Peter H. Grubb, Josh L. Bonkowsky, Nicola Longo, Sabrina Malone Jenkins

Get full text

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning by Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

Get full text

Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program by Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky

Get full text

P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome by Ting Wen, Hayley Reynolds, Andrew Farrell, Barry Moore, Steven Boyden, Thomas Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Bonkowsky, Brian Shayota, Sabrina Malone-Jenkins, Pinar Bayrak-Toydemir, Rong Mao

Get full text

P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines by Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan

Get full text

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia by Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins

Get full text

P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 by Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins

Get full text

P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care by Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky

Get full text