Bibliotecas PUC-SP - Busca Integrada

P824: GREGoR: Increasing rare disease diagnosis using emerging technologies and data sharing

por Danny Miller
Publicado en Genetics in Medicine Open (2024-01-01)

P756: Uncovering disease-associated SVA insertions missed by routine clinical testing

por Joy Goffena, Jonas Gustafson, Danny Miller
Publicado en Genetics in Medicine Open (2025-01-01)

Narcisismo e liderança: uma perspectiva de relações de objetos

por Manfred F. R. Kets de Vries, Danny Miller
Publicado en RAE: Revista de Administração de Empresas (1990-07-01)

The Routledge Handbook of Sustainable Real Estate

por Sara Wilkinson, Tim Dixon, Danny Norm, Danny Miller, Sarah Sayce
Publicado en Journal of Sustainable Real Estate (2018-01-01)

P246: Five-year retrospective case series of genetic findings in patients with planned surgical interventions for cardiac left-right patterning differences

por Jonathan Marquez, Lauren Carlozzi, Danny Miller, Matthew Files, BreAnna Kinghorn, Eyal Sagiv
Publicado en Genetics in Medicine Open (2023-01-01)

O33: Concordance of long-read genome sequencing with methylation calling with clinical testing for individuals with Prader-Willi or Angelman Syndrome*

por Cate Paschal, Anita Beck, Madelyn Gillentine, Jaya Narayanan, Paxton Reed, Miranda Galey, Danny Miller
Publicado en Genetics in Medicine Open (2023-01-01)

P655: Performing long-read sequencing from dried blood spot cards

por Sydney Ward, Joy Goffena, Sophie Storz, Miranda Galey, Alexandra Keefe, Cate Paschal, Anna Scott, Danny Miller
Publicado en Genetics in Medicine Open (2024-01-01)

P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita

por Ankita Jhuraney, Sarah Paolucci, Sophia Gibson, Nikhita Damaraju, Danny Miller, Jennifer Hayek, Bri Dingmann, Jillian Buchan
Publicado en Genetics in Medicine Open (2024-01-01)

Effects of manual osteopathic interventions on psychometric and psychophysiological indicators of anxiety, depression and stress in adults: a systematic review and meta-analysis of...

por Darren J Edwards, Jerry Draper-Rodi, Danny Miller, Josh Hope-Bell, Andrew MacMillan, Tom C Gordon
Publicado en BMJ Open (2025-02-01)

P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype

por Arthur Lenahan, Ian Glass, Andrew Stergachis, Cate Paschal, Elizabeth Blue, Aimee Allworth, Ingrid Cristian, Danny Miller, Jennifer Morrison
Publicado en Genetics in Medicine Open (2024-01-01)

448 Unraveling the pathogenicity of a novel variant in Diamond Blackfan anemia

por Alexandra Prosser-Dombrowski, John Perry, Irina Pushel, Jacqelyn Nemechek, Jay Vivian, Priyanka Prem Kumar, Chris Seidel, Danny Miller
Publicado en Journal of Clinical and Translational Science (2025-04-01)

P693: Resolution of newborn screening results via targeted long-read sequencing

por Cate Paschal, Sunny Ye, Candace Myers, Sydney Ward, Joy Goffena, Sophie Storz, Zach Anderson, Miranda Zalusky, Anna Scott, Danny Miller
Publicado en Genetics in Medicine Open (2025-01-01)

P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females

por Danny Miller, Camille Dash, David Miller, Miranda Galey, Jasmine Lin, Jill A. Madden, Alan Beggs, Pankaj Agrawal, Casie Genetti, Monica Wojcik
Publicado en Genetics in Medicine Open (2023-01-01)

P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants

por Jennifer Cech, Danny Miller, Cate Paschal, Bri Dingmann, Anna Scott, Jenny Thies, Maria Mills, J. Lawrence Merritt, II, Ghayda Mirzaa, James Bennett, Ian Glass, Darci Sternen, Heather Mefford
Publicado en Genetics in Medicine Open (2023-01-01)

P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

por Revathi Rajkumar, Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns, Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti, Ryan Taft, Denise Perry, Akanchha Kesari
Publicado en Genetics in Medicine Open (2025-01-01)

P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

por Tara Wenger, Alexandra Keefe, Megan Sikes, Luke Kruidenier, Joon-Ho Yu, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Abbey Scott, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, David Veenstra, Danny Miller, Katrina Dipple, Michael Bamshad
Publicado en Genetics in Medicine Open (2023-01-01)

P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU*

por Alexandra Keefe, Tara Wenger, Joon-Ho Yu, Megan Sikes, Luke Kruidenier, Abbey Scott, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, David Veenstra, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, Danny Miller, Katrina Dipple, Kyle Brothers, Michael Bamshad
Publicado en Genetics in Medicine Open (2023-01-01)

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

por Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad
Publicado en Genetics in Medicine Open (2024-01-01)

O28: GREGoR: Accelerating genomics for rare diseases

por Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery
Publicado en Genetics in Medicine Open (2025-01-01)