検索結果 - Kristen Rasmussen
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Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the Americ... 著者: Darrel Waggoner, Karen E. Wain, Adrian M. Dubuc, Laura K. Conlin, Scott E. Hickey, Allen N. Lamb, Christa Lese Martin, Cynthia C. Morton, Kristen Rasmussen, Jane L. Schuette, Stuart Schwartz, David T. Miller
出版事項 2018Revisão -
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A Missense <i>T</i>(<i>Brachyury</i>) Mutation Contributes to Vertebral Malformations 著者: Nader Ghebranious, Robert D. Blank, Cathleen Raggio, Justin Staubli, Elizabeth McPherson, Lynn Ivacic, Kristen Rasmussen, F. Stig Jacobsen, Thomas Faciszewski, James K. Burmester, Richard M. Pauli, Oheneba Boachie–Adjei, Ingrid Glurich, Philip F. Giampietro
出版事項 2008Artigo -
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change 著者: Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm
出版事項 2023Artigo -
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 著者: Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher
出版事項 2022Artigo
関連主題
Biology
Gene
Genetics
Medicine
Mutation
Bioinformatics
Genetic counseling
Genetic testing
Genome
Medical genetics
Missense mutation
Biochemistry
Brachyury
Cancer research
Chromosome
Compound heterozygosity
Computational biology
Computer science
Database
Documentation
Embryonic stem cell
Engineering
Exome
Exome sequencing
Exon
Family medicine
Frameshift mutation
Genomics
Germline
Germline mutation