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2,374 results

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Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I, Fagerberg C, Brasch-Andersen C, Torring PM, Kristiansen BS, Hao Q, Sperling L, Ibsen MH, Löser K, Bendsen EA, Ousager LB, Larsen MJ. Miceikaite I, et al. Among authors: hao q. Prenat Diagn. 2023 Aug;43(9):1132-1141. doi: 10.1002/pd.6402. Epub 2023 Jul 3. Prenat Diagn. 2023. PMID: 37355983
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Miceikaitė I, Hao Q, Brasch-Andersen C, Fagerberg CR, Torring PM, Kristiansen BS, Ousager LB, Sperling L, Ibsen MH, Löser K, Larsen MJ. Miceikaitė I, et al. Among authors: hao q. N Engl J Med. 2023 Nov 23;389(21):2017-2019. doi: 10.1056/NEJMc2307918. N Engl J Med. 2023. PMID: 37991863 No abstract available.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I, Mateu-Regué À, Do TTN, Miceikaite I, Sdogati D, Larsen MJ, Hao Q, Nielsen HR, Boonen SE, Skytte AB, Jensen UB, Høffding LK, De Nicolo A, Viel A, Tudini E, Parsons MT, Hansen TVO, Rossing M, Kruse TA, Spurdle AB, Thomassen M. Block I, et al. Among authors: hao q. Breast Cancer Res. 2024 Jan 9;26(1):6. doi: 10.1186/s13058-023-01755-9. Breast Cancer Res. 2024. PMID: 38195559 Free PMC article.
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.
Lildballe DL, Markholt S, Lyngholm CD, Hao Q, Fagerberg C, Nielsen DG, Svensmark JH, Diness BR, Gregersen PA. Lildballe DL, et al. Among authors: hao q. Am J Med Genet A. 2024 Nov;194(11):e63795. doi: 10.1002/ajmg.a.63795. Epub 2024 Jun 21. Am J Med Genet A. 2024. PMID: 39394948
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K, Jørgensen SE, Sandgaard KS, De Keukeleere K, B-Hansen M, Petersen MS, Hartling UB, Vaal TMK, Nielsen C, Jakobsen MA, Watt E, Adams S, Hao Q, Fagerberg C, Mogensen TH. Assing K, et al. Among authors: hao q. J Clin Immunol. 2023 Nov;43(8):1927-1940. doi: 10.1007/s10875-023-01561-0. Epub 2023 Aug 15. J Clin Immunol. 2023. PMID: 37581646 Free PMC article.
Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Møller NB, Boonen DS, Feldner ES, Hao Q, Larsen M, Lænkholm AV, Borg Å, Kvist A, Törngren T, Jensen UB, Boonen SE, Thomassen M, Terkelsen T. Møller NB, et al. Among authors: hao q. Sci Rep. 2023 Sep 15;13(1):15294. doi: 10.1038/s41598-023-42606-z. Sci Rep. 2023. PMID: 37714994 Free PMC article. No abstract available.
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Among authors: hao q. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK. Oates S, et al. Among authors: hao q. NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 29760947 Free PMC article.
2,374 results