P335: Cortical brain malformations in two siblings with Poretti-Boltshauser syndrome: A possible phenotype expansion

by Cassie Turnage, Rachel Palmquist, Melissa Wright
Published 2023-01-01

P125: Whole-genome sequencing in the NICU: Improving healthcare through precision medicine

by Danielle Bonser, Martin Tristani-Firouzi, Rachel Palmquist, Sabrina Malone-Jenkins
Published 2023-01-01

P011: X-linked adrenoleukodystrophy after implementation of newborn screening: A reference laboratory perspective

by Julia Prinzi, Marzia Pasquali, Rachel Palmquist, Kristen Wong, Stephanie Francis
Published 2023-01-01

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
Published 2023-01-01

On the edge—A diagnostic odyssey

by Hailey McLean, Rachel Palmquist, Lincoln D. Nadauld, Sabrina Malone Jenkins, Joshua Bonkowsky, Francis Filloux
Published 2022-04-01

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

by Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase
Published 2023-11-01

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
Published 2023-01-01

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
Published 2021-01-01

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
Published 2023-01-01

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
Published 2023-01-01

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
Published 2022-04-01

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
Published 2023-01-01

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
Published 2023-01-01

The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health

by Nephi A. Walton, Brent Hafen, Sara Graceffo, Nykole Sutherland, Melanie Emmerson, Rachel Palmquist, Christine M. Formea, Maricel Purcell, Bret Heale, Matthew A. Brown, Christopher J. Danford, Sumathi I. Rachamadugu, Thomas N. Person, Katherine A. Shortt, G. Bryce Christensen, Jared M. Evans, Sharanya Raghunath, Christopher P. Johnson, Stacey Knight, Viet T. Le, Jeffrey L. Anderson, Margaret Van Meter, Teresa Reading, Derrick S. Haslem, Ivy C. Hansen, Betsey Batcher, Tyler Barker, Travis J. Sheffield, Bhaskara Yandava, David P. Taylor, Pallavi Ranade-Kharkar, Christopher C. Giauque, Kenneth R. Eyring, Jesse W. Breinholt, Mickey R. Miller, Payton R. Carter, Jason L. Gillman, Andrew W. Gunn, Kirk U. Knowlton, Joshua L. Bonkowsky, Kari Stefansson, Lincoln D. Nadauld, Howard L. McLeod
Published 2022-11-01