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

Year Number of Results
1993 2
1999 1
2001 1
2004 1
2005 2
2007 2
2008 1
2009 3
2010 2
2011 1
2012 6
2013 9
2014 7
2015 3
2016 5
2017 5
2018 3
2019 2
2020 2
2021 1
2022 2
2023 3
2024 2

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48 results

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Page 1
Floating-Harbor Syndrome.
Nowaczyk MJM, Nikkel SM, White SM. Nowaczyk MJM, et al. Among authors: nikkel sm. 2012 Nov 29 [updated 2022 Oct 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Nov 29 [updated 2022 Oct 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23193612 Free Books & Documents. Review.
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE. Bober MB, et al. Among authors: nikkel sm. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301650 Free Books & Documents. Review.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: nikkel sm. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: nikkel sm. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. Among authors: nikkel sm. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: nikkel sm. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: nikkel sm. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
48 results