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492 results

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Page 1
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: brunner hg. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
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, 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, Werri… 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
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: brunner hg. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Among authors: brunner hg. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Harris EL, Roy V, Montagne M, Rose AMS, Livesey H, Reijnders MRF, Hobson E, Sansbury FH, Willemsen MH, Pfundt R, Warren D, Long V, Carr IM, Brunner HG, Sheridan EG, Firth HV, Lavigne P, Poulter JA. Harris EL, et al. Among authors: brunner hg. Am J Hum Genet. 2024 Jan 4;111(1):119-132. doi: 10.1016/j.ajhg.2023.11.010. Epub 2023 Dec 22. Am J Hum Genet. 2024. PMID: 38141607 Free PMC article.
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJC, Koeck RM, von Rango U, Brandts L, Deligiannis SP, Nikitina TV, Sazhenova EA, Tolmacheva EN, Kashevarova AA, Fedotov DA, Demeneva VV, Zhigalina DI, Drozdov GV, Al-Nasiry S, Macville MVE, van den Wijngaard A, Dreesen J, Paulussen A, Hoischen A, Brunner HG, Salumets A, Zamani Esteki M. Essers R, et al. Among authors: brunner hg. Nat Med. 2023 Dec;29(12):3233-3242. doi: 10.1038/s41591-023-02645-5. Epub 2023 Nov 23. Nat Med. 2023. PMID: 37996709 Free PMC 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.
492 results