Hoffer MJ - Search Results

1

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

Tan RN, Witlox RS, Hilhorst-Hofstee Y, Peeters-Scholte CM, den Hollander NS, Ruivenkamp CA, Hoffer MJ, Hansson KB, van Roosmalen MJ, Kloosterman WP, Santen GW. Tan RN, et al. Among authors: hoffer mj. Am J Med Genet A. 2015 Aug;167A(8):1884-9. doi: 10.1002/ajmg.a.37076. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900458

2

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. Hoffer MJ, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. doi: 10.1016/j.ejmg.2006.11.004. Epub 2006 Dec 8. Eur J Med Genet. 2007. PMID: 17223398

3

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Gijsbers AC, Bijlsma EK, Weiss MM, Bakker E, Breuning MH, Hoffer MJ, Ruivenkamp CA. Gijsbers AC, et al. Among authors: hoffer mj. Eur J Med Genet. 2008 Sep-Oct;51(5):479-87. doi: 10.1016/j.ejmg.2008.04.003. Epub 2008 May 3. Eur J Med Genet. 2008. PMID: 18547887

4

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.

Harteveld CL, Refaldi C, Giambona A, Ruivenkamp CA, Hoffer MJ, Pijpe J, De Knijff P, Borgna-Pignatti C, Maggio A, Cappellini MD, Giordano PC. Harteveld CL, et al. Among authors: hoffer mj. Haematologica. 2013 May;98(5):691-5. doi: 10.3324/haematol.2012.065219. Epub 2012 Sep 14. Haematologica. 2013. PMID: 22983591 Free PMC article.

5

Copy number variants in patients with short stature.

van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: hoffer mj. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.

6

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F. Yamamoto T, et al. Among authors: hoffer mj. Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11. Eur J Med Genet. 2014. PMID: 24525055

7

Next-generation diagnostics: gene panel, exome, or whole genome?

Sun Y, Ruivenkamp CA, Hoffer MJ, Vrijenhoek T, Kriek M, van Asperen CJ, den Dunnen JT, Santen GW. Sun Y, et al. Among authors: hoffer mj. Hum Mutat. 2015 Jun;36(6):648-55. doi: 10.1002/humu.22783. Epub 2015 Apr 17. Hum Mutat. 2015. PMID: 25772376

8

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: hoffer mj. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832

9

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium; Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Fenwick AL, et al. Among authors: hoffer mj. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374770 Free PMC article.

10

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A. Breckpot J, et al. Among authors: hoffer mj. Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9. Eur J Med Genet. 2016. PMID: 27519580

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