Search Results - Alanna Strong
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism by Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson
Published in Molecular Cytogenetics (2022-08-01)Get full text
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P399: Follow the family history: Neonatal diagnosis of YARSopathy and congenital CMV by Haley Crane, Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg, Christina Paidas Teefey, Steven Horii, Cara Skraban, Alanna Strong, Matthew Demczko, Michelle Marchese, Katherine Szigety, Shelly Soni
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P860: Prenatally diagnosed Beare-Stevenson cutis gyrata syndrome with a novel variant by Haley Crane, Rose Giardine, Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa Sparks, Beverly Coleman, Julie Moldenhauer
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Phenotypes of undiagnosed adults with actionable OTC and GLA variants by Jessica I. Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G. Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, Robert C. Green, Nina B. Gold
Published in HGG Advances (2023-10-01)Get full text
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P805: Advancing precision care in pregnancy through a treatable fetal findings list by Jennifer Cohen, Michael Duyzend, Sophia Adelson, Julie Yeo, Mark Fleming, Rebecca Ganetzky, Rebecca Hale, Deborah Mitchell, Sarah Morton, Rebecca Reimers, Amy Roberts, Alanna Strong, Weizhen Tan, Jay Thiagarajah, Melissa Walker, Robert Green, Nina Gold
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort by Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson
Published in Scientific Reports (2023-01-01)Get full text
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P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions* by Nidhi Shah, Nina Gold, Sophia Adelson, Shardae Williams, Sarah Bick, Jessica Gold, Alanna Strong, Rebecca Ganetzky, Amy Roberts, Melissa Walker, Alexander Holtz, Vijay Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid Holm, Jay Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert Green
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants by David Curtis, Daryl Scott, Seema Lalani, Mahshid Azamian, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal Chaudhari, Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiratti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Radio Clementina, Christelle Achkar, Koen Gassen, Marie-José van den Boogard, Tony Roscioli, Kim McBride, Julie Lauzon, Hannes Syryn, Martine Cools, Elfride De Baere, Victor Faundes, Gabriela Repetto, Sarah Josephi-Taylor, Adam Bournazos, Sandra Cooper, Nichole Owen, Xiaonan Zhao
Published in Genetics in Medicine Open (2025-01-01)Get full text
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