Scherer S - Search Results

1

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: scherer s. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.

2

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Nakabayashi K, et al. Among authors: scherer sw. Hum Mol Genet. 2002 Jul 15;11(15):1743-56. doi: 10.1093/hmg/11.15.1743. Hum Mol Genet. 2002. PMID: 12095916

3

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.

Bentley L, Nakabayashi K, Monk D, Beechey C, Peters J, Birjandi Z, Khayat FE, Patel M, Preece MA, Stanier P, Scherer SW, Moore GE. Bentley L, et al. Among authors: scherer sw. J Med Genet. 2003 Apr;40(4):249-56. doi: 10.1136/jmg.40.4.249. J Med Genet. 2003. PMID: 12676894 Free PMC article.

4

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.

Monk D, Wagschal A, Arnaud P, Müller PS, Parker-Katiraee L, Bourc'his D, Scherer SW, Feil R, Stanier P, Moore GE. Monk D, et al. Genome Res. 2008 Aug;18(8):1270-81. doi: 10.1101/gr.077115.108. Epub 2008 May 14. Genome Res. 2008. PMID: 18480470 Free PMC article.

5

Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.

Parker-Katiraee L, Bousiaki E, Monk D, Moore GE, Nakabayashi K, Scherer SW. Parker-Katiraee L, et al. Hum Mol Genet. 2008 Nov 1;17(21):3263-70. doi: 10.1093/hmg/ddn222. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678600 Free PMC article.

6

Contemplating effects of genomic structural variation.

Buchanan JA, Scherer SW. Buchanan JA, et al. Genet Med. 2008 Sep;10(9):639-47. doi: 10.1097/gim.0b013e318183f848. Genet Med. 2008. PMID: 18978673 Review.

7

1q21.1 Microduplication expression in adults.

Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. Dolcetti A, et al. Among authors: scherer sw. Genet Med. 2013 Apr;15(4):282-9. doi: 10.1038/gim.2012.129. Epub 2012 Sep 27. Genet Med. 2013. PMID: 23018752 Free PMC article. Review.

8

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Among authors: scherer sw. Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31. Genet Med. 2015. PMID: 25077648 Free PMC article. Review.

9

A copy number variation map of the human genome.

Zarrei M, MacDonald JR, Merico D, Scherer SW. Zarrei M, et al. Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3. Nat Rev Genet. 2015. PMID: 25645873 Review.

10

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Naseer MI, et al. Among authors: scherer sw. Am J Med Genet A. 2016 Nov;170(11):3018-3022. doi: 10.1002/ajmg.a.37845. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27531570

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