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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: maas sm. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. Kroes HY, et al. Among authors: maas sm. Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6. Eur J Med Genet. 2008. PMID: 18054307
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: maas sm. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: maas sm. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587
Opposite effects on facial morphology due to gene dosage sensitivity.
Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith AC, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R. Hammond P, et al. Among authors: maas sm. Hum Genet. 2014 Sep;133(9):1117-25. doi: 10.1007/s00439-014-1455-z. Epub 2014 Jun 3. Hum Genet. 2014. PMID: 24889830 Free PMC article.
110 results