Bibliotecas PUC-SP - Busca Integrada

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

Por Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma S. James, Suyash Prasad
Publicado no BMC Neurology (2017-11-01)

The Genomic landscape of short tandem repeats across multiple ancestries.

Por Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F Kingsmore, David Dimmock, Charlotte Hobbs, Matthew Bainbridge
Publicado no PLoS ONE (2023-01-01)

The Genomic landscape of short tandem repeats across multiple ancestries

Por Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F. Kingsmore, David Dimmock, Charlotte Hobbs, Matthew Bainbridge
Publicado no PLoS ONE (2023-01-01)

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

Por Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield
Publicado no Clinical Case Reports (2019-11-01)

Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent–child differences

Por Chelsea S. Rapoport, Diane Masser‐Frye, Sapna Mehta, Alyssa K. Choi, Sydney Olfus, Megan Korhummel, Veronica Hoyo, David Dimmock, Vanessa L. Malcarne, Dennis J. Kuo
Publicado no Cancer Reports (2024-09-01)

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Por Nathaly M. Sweeney, Shareef A. Nahas, Sh. Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publicado no npj Genomic Medicine (2021-04-01)

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Por Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publicado no npj Genomic Medicine (2021-05-01)

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Por Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Publicado no npj Genomic Medicine (2021-05-01)

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

Por Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Publicado no npj Genomic Medicine (2024-02-01)

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Por Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative
Publicado no Genome Medicine (2020-05-01)

Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities

Por R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Tejinder Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg, Lori A. Orlando
Publicado no BMC Health Services Research (2022-12-01)

Clinical utility of genomic sequencing: a measurement toolkit

Por Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Publicado no npj Genomic Medicine (2020-12-01)

At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care

Por Lori A. Orlando, R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Teji Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg
Publicado no BMC Health Services Research (2020-11-01)

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

Por John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publicado no Orphanet Journal of Rare Diseases (2023-07-01)

The evolution of the mitochondrial disease diagnostic odyssey

Por John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publicado no Orphanet Journal of Rare Diseases (2023-06-01)

Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

Por 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
Publicado no Journal of Clinical and Translational Science (2021-01-01)

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

Por Lauren Thompson, Austin Larson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Publicado no Frontiers in Pediatrics (2024-02-01)

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

Por Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
Publicado no Annals of Clinical and Translational Neurology (2021-11-01)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Por Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Publicado no Nature Communications (2019-02-01)