Genetic Disease

Thomas A. Miller, Edgar J. Hernandez, J. William Gaynor, Mark W. Russell, Jane W. Newburger, Wendy Chung, Elizabeth Goldmuntz, James F. Cnota, Sinai C. Zyblewski, William T. Mahle, Victor Zak, Chitra Ravishankar, Jonathan R. Kaltman, Brian W. McCrindle, Shanelle Clarke, Jodie K. Votava-Smith, Eric M. Graham, Mike Seed, Nancy Rudd, Daniel Bernstein, Teresa M. Lee, Mark Yandell & Martin Tristani-Firouzi

Our analyses suggest a modest genetic contribution to neurodevelopmental outcomes as isolated variables, similar to known clinical predictors.

Communications Medicine, 3, Article number: 127 (2023)
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Genetic Disease

Jill L. Maron, MD, MPH; Stephen Kingsmore, MD; Bruce D. Gelb, MD; Jerry Vockley, MD, PhD; Kristen Wigby, MD; Jennifer Bragg, MD; Annemarie Stroustrup, MD, MPH; Brenda Poindexter, MD, MS; Kristen Suhrie, MD; Jae H. Kim, MD, PhD; Thomas Diacovo, MD, PhD; Cynthia M. Powell, MD, MS; Andrea Trembath, MD, MPH; Lucia Guidugli, PhD; Katarzyna A. Ellsworth, PhD; Dallas Reed, MD; Anne Kurfiss, MPH; Janis L. Breeze, MPH; Ludovic Trinquart, PhD; Jonathan M. Davis, MD

OBJECTIVE: To compare outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test.

Technology

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

Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for application of WGS in the NICU. There is a dire need for automated means to prioritize patients for WGS.

Genome Medicine; 16 March 2023
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Genetic Disease

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

Archived DBS appear to be a suitable sample type for WGS in population genomic studies.

npj Genomic Medicine; 14 February, 2023
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Technology

Francisco M. De La Vega , Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell and Stephen F. Kingsmore

Fabric GEM ranks >90% of causal genes in top 2 candidates and breaks ground by incorporating SVs and phenotypes in automated AI-driven analysis.

Genome Medicine; October 14, 2021
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