التفاصيل البيبلوغرافية
| العنوان: |
Genome Sequencing for Diagnosing Rare Diseases. |
| المؤلفون: |
Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne |
| المصدر: |
N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21 |
| بيانات النشر: |
New England Journal of Medicine |
| سنة النشر: |
2024 |
| المجموعة: |
PubMed Central (PMC) |
| الوصف: |
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains poorly defined. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
https://doi.org/10.1056/NEJMoa2314761Test; https://pubmed.ncbi.nlm.nih.gov/38838312Test |
| DOI: |
10.1056/NEJMoa2314761 |
| الإتاحة: |
https://doi.org/10.1056/NEJMoa2314761Test
https://pubmed.ncbi.nlm.nih.gov/38838312Test |
| حقوق: |
Copyright © 2024 Massachusetts Medical Society. |
| رقم الانضمام: |
edsbas.67651AE6 |
| قاعدة البيانات: |
BASE |
