Scherer SW - Search Results

1

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, K… See abstract for full author list ➔ Jacquemont S, et al. Among authors: scherer sw. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.

2

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.

Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Vincent JB, et al. Among authors: scherer sw. Am J Hum Genet. 2000 Aug;67(2):510-4. doi: 10.1086/303005. Epub 2000 Jul 7. Am J Hum Genet. 2000. PMID: 10889047 Free PMC article.

3

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. Petek E, et al. Among authors: scherer sw. Am J Hum Genet. 2001 Apr;68(4):848-58. doi: 10.1086/319523. Epub 2001 Mar 9. Am J Hum Genet. 2001. PMID: 11254443 Free PMC article.

4

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Among authors: scherer sw. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489

5

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Estivill X, et al. Among authors: scherer sw. Hum Mol Genet. 2002 Aug 15;11(17):1987-95. doi: 10.1093/hmg/11.17.1987. Hum Mol Genet. 2002. PMID: 12165560

6

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM. Petek E, et al. Among authors: scherer sw. Am J Med Genet A. 2003 Mar 1;117A(2):122-6. doi: 10.1002/ajmg.a.10155. Am J Med Genet A. 2003. PMID: 12567408

7

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Cheung J, et al. Among authors: scherer sw. Genome Biol. 2003;4(4):R25. doi: 10.1186/gb-2003-4-4-r25. Epub 2003 Mar 17. Genome Biol. 2003. PMID: 12702206 Free PMC article.

8

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnström K, Järvelä I, Scherer SW. Kwasnicka-Crawford DA, et al. Among authors: scherer sw. Genomics. 2005 Aug;86(2):182-94. doi: 10.1016/j.ygeno.2005.04.002. Genomics. 2005. PMID: 15925480

9

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW. Fernandez BA, et al. Among authors: scherer sw. Clin Genet. 2005 Oct;68(4):349-59. doi: 10.1111/j.1399-0004.2005.00498.x. Clin Genet. 2005. PMID: 16143022 Review.

10

An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.

Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. Vincent JB, et al. Among authors: scherer sw. J Med Genet. 2006 May;43(5):429-34. doi: 10.1136/jmg.2005.039693. Epub 2006 Mar 23. J Med Genet. 2006. PMID: 16556609 Free PMC article.

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