Schaaf CP - Search Results

1

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: schaaf cp. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.

2

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.

Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. Shinawi M, et al. Among authors: schaaf cp. Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8. Nat Genet. 2009. PMID: 19898479 Free PMC article.

3

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Szafranski P, et al. Among authors: schaaf cp. Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284. Hum Mutat. 2010. PMID: 20506139 Free PMC article.

4

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Schaaf CP, et al. Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20. Eur J Hum Genet. 2011. PMID: 20959866 Free PMC article.

5

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Breman AM, et al. Among authors: schaaf cp. Am J Med Genet A. 2011 Jun;155A(6):1465-8. doi: 10.1002/ajmg.a.33935. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567909 Free PMC article. No abstract available.

6

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Schaaf CP, et al. Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21636302

7

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.

8

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. Hanchard NA, et al. Among authors: schaaf cp. BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71. BMC Med Genet. 2012. PMID: 22883432 Free PMC article.

9

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: schaaf cp. Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14. Hum Genet. 2012. PMID: 22890305 Free PMC article.

10

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. Dittwald P, et al. Among authors: schaaf cp. Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8. Genome Res. 2013. PMID: 23657883 Free PMC article.

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