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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
1963 1
1964 1
1965 1
1968 2
1970 2
1972 2
1974 2
1976 2
1978 1
1980 1
1982 1
1988 2
1989 1
1991 1
1993 2
1995 1
2000 1
2005 1
2006 1
2009 1
2012 4
2013 3
2014 3
2015 1
2016 1
2017 2
2018 3
2019 5
2020 6
2021 0
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51 results
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Page 1
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Among authors: platzer k. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C. Konrad EDH, et al. Among authors: platzer k. Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239556 Free PMC article.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: platzer k. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193
GRIN2B-Related Neurodevelopmental Disorder.
Platzer K, Lemke JR. Platzer K, et al. 2018 May 31. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 29851452 Free Books & Documents. Review.
GRIN1-Related Neurodevelopmental Disorder.
Platzer K, Lemke JR. Platzer K, et al. 2019 Jun 20. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 31219694 Free Books & Documents. Review.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E. Weber-Lassalle N, et al. Among authors: platzer k. Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9. Breast Cancer Res. 2018. PMID: 29368626 Free PMC article.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. Among authors: platzer k. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
A female patient with a receding hairline.
Platzer KD, Steimle-Grauer SA, Biedermann T, Posch C. Platzer KD, et al. J Dtsch Dermatol Ges. 2020 Jul 27. doi: 10.1111/ddg.14185. Online ahead of print. J Dtsch Dermatol Ges. 2020. PMID: 32717130 No abstract available.
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