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SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.
Hurkmans EGE, Koenderink JB, van den Heuvel JJMW, Versleijen-Jonkers YMH, Hillebrandt-Roeffen MHS, Groothuismink JM, Vos HI, van der Graaf WTA, Flucke U, Muradjan G, Schreuder HWB, Hagleitner MM, Brunner HG, Gelderblom H, Cleton-Jansen AM, Guchelaar HJ, de Bont ESJM, Touw DJ, Nijhoff GJ, Kremer LCM, Caron H, Windsor R, Patiño-García A, González-Neira A, Saletta F, McCowage G, Nagabushan S, Catchpoole D, Te Loo DMWM, Coenen MJH. Hurkmans EGE, et al. Among authors: brunner hg. Front Pharmacol. 2022 Nov 9;13:1042989. doi: 10.3389/fphar.2022.1042989. eCollection 2022. Front Pharmacol. 2022. PMID: 36438828 Free PMC article.
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients.
Verdonschot JAJ, Wang P, Derks KWJ, Adriaens ME, Stroeks SLVM, Henkens MTHM, Raafs AG, Sikking M, de Koning B, van den Wijngaard A, Krapels IPC, Nabben M, Brunner HG, Heymans SRB. Verdonschot JAJ, et al. Among authors: brunner hg. JACC Basic Transl Sci. 2023 Feb 1;8(4):406-418. doi: 10.1016/j.jacbts.2022.10.010. eCollection 2023 Apr. JACC Basic Transl Sci. 2023. PMID: 37138803 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. O'Neill MJ, et al. Heart Rhythm. 2023 Aug;20(8):1158-1166. doi: 10.1016/j.hrthm.2023.05.006. Epub 2023 May 9. Heart Rhythm. 2023. PMID: 37164047 Free PMC article.
Left Atrial Function in Patients with Titin Cardiomyopathy.
Henkens MTHM, Raafs AG, Vanloon T, Vos JL, Vandenwijngaard A, Brunner HG, Krapels IPC, Knackstedt C, Gerretsen S, Hazebroek MR, Vernooy K, Nijveldt R, Lumens J, Verdonschot JAJ. Henkens MTHM, et al. Among authors: brunner hg. J Card Fail. 2024 Jan;30(1):51-60. doi: 10.1016/j.cardfail.2023.05.013. Epub 2023 May 23. J Card Fail. 2024. PMID: 37230314 Free article.
Exploring uncertainties regarding unsolicited findings in genetic testing.
van der Schoot V, van der Meer E, Hillen MA, Yntema HG, Brunner HG, Oerlemans AJM. van der Schoot V, et al. Among authors: brunner hg. Patient Educ Couns. 2024 Feb;119:108064. doi: 10.1016/j.pec.2023.108064. Epub 2023 Nov 10. Patient Educ Couns. 2024. PMID: 37976670 Free article.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: brunner hg. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Genetic variants for head size share genes and pathways with cancer.
Knol MJ, Poot RA, Evans TE, Satizabal CL, Mishra A, Sargurupremraj M, van der Auwera S, Duperron MG, Jian X, Hostettler IC, van Dam-Nolen DHK, Lamballais S, Pawlak MA, Lewis CE, Carrion-Castillo A, van Erp TGM, Reinbold CS, Shin J, Scholz M, Håberg AK, Kämpe A, Li GHY, Avinun R, Atkins JR, Hsu FC, Amod AR, Lam M, Tsuchida A, Teunissen MWA, Aygün N, Patel Y, Liang D, Beiser AS, Beyer F, Bis JC, Bos D, Bryan RN, Bülow R, Caspers S, Catheline G, Cecil CAM, Dalvie S, Dartigues JF, DeCarli C, Enlund-Cerullo M, Ford JM, Franke B, Freedman BI, Friedrich N, Green MJ, Haworth S, Helmer C, Hoffmann P, Homuth G, Ikram MK, Jack CR Jr, Jahanshad N, Jockwitz C, Kamatani Y, Knodt AR, Li S, Lim K, Longstreth WT, Macciardi F; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie O, Mazoyer B, Medland SE, Miyamoto S, Moebus S, Mosley TH, Muetzel R, Mühleisen TW, Nagata M, Nakahara S, Palmer ND, Pausova Z, Preda A, Quidé Y, Reay WR, Roshchupkin GV, Schmidt R, Schreiner PJ, Setoh K, Shapland CY, Sidney S, St Pourcain B, Stein JL, Tabara Y, Teumer A, Uhlmann A, van der Lugt A, Vernooij MW, We… See abstract for full author list ➔ Knol MJ, et al. Among authors: brunner hg. Cell Rep Med. 2024 May 3:101529. doi: 10.1016/j.xcrm.2024.101529. Online ahead of print. Cell Rep Med. 2024. PMID: 38703765 Free article.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Verdonschot JAJ, et al. Among authors: brunner hg. Circ Genom Precis Med. 2024 Apr;17(2):e004416. doi: 10.1161/CIRCGEN.123.004416. Epub 2024 Mar 22. Circ Genom Precis Med. 2024. PMID: 38516780 Free PMC article.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Among authors: brunner hg. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171
493 results