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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: groffen aj. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: groffen aj. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Among authors: groffen aj. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms.
Arias-Vásquez A, Groffen AJ, Spijker S, Ouwens KG, Klein M, Vojinovic D, Galesloot TE, Bralten J, Hottenga JJ, van der Most PJ, Kattenberg VM, Pool R, Nolte IM, Penninx BWJH, Fedko IO, Dolan CV, Nivard MG, den Braber A, van Duijn CM, Hoekstra PJ, Buitelaar JK, Kiemeney LA, Hoogman M, Middeldorp CM, Draisma HHM, Vermeulen SH, Sánchez-Mora C, Ramos-Quiroga JA, Ribasés M; EAGLE-ADHD Consortium; Hartman CA, Kooij JJS, Amin N, Smit AB, Franke B, Boomsma DI. Arias-Vásquez A, et al. Among authors: groffen aj. Behav Genet. 2019 May;49(3):270-285. doi: 10.1007/s10519-018-09947-2. Epub 2019 Jan 18. Behav Genet. 2019. PMID: 30659475
Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differences.
Giniatullina A, Maroteaux G, Geerts CJ, Koopmans B, Loos M, Klaassen R, Chen N, van der Schors RC, van Nierop P, Li KW, de Jong J, Altrock WD, Cornelisse LN, Toonen RF, van der Sluis S, Sullivan PF, Stiedl O, Posthuma D, Smit AB, Groffen AJ, Verhage M. Giniatullina A, et al. Among authors: groffen aj. Neuroscience. 2015 Aug 6;300:518-38. doi: 10.1016/j.neuroscience.2015.05.047. Epub 2015 Jun 1. Neuroscience. 2015. PMID: 26045179
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.
van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM. van Rootselaar AF, et al. Among authors: groffen aj. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10. Neurology. 2017. PMID: 29127138
Tomosyn interacts with the SUMO E3 ligase PIASγ.
Geerts CJ, Jacobsen L, van de Bospoort R, Verhage M, Groffen AJ. Geerts CJ, et al. Among authors: groffen aj. PLoS One. 2014 Mar 10;9(3):e91697. doi: 10.1371/journal.pone.0091697. eCollection 2014. PLoS One. 2014. PMID: 24614299 Free PMC article.
43 results