Fisher SE - Search Results

1

Clinical delineation of SETBP1 haploinsufficiency disorder.

Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW. Jansen NA, et al. Among authors: fisher se. Eur J Hum Genet. 2021 Aug;29(8):1198-1205. doi: 10.1038/s41431-021-00888-9. Epub 2021 Apr 19. Eur J Hum Genet. 2021. PMID: 33867525 Free PMC article.

2

A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.

Ogdie MN, Macphie IL, Minassian SL, Yang M, Fisher SE, Francks C, Cantor RM, McCracken JT, McGough JJ, Nelson SF, Monaco AP, Smalley SL. Ogdie MN, et al. Among authors: fisher se. Am J Hum Genet. 2003 May;72(5):1268-79. doi: 10.1086/375139. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687500 Free PMC article.

3

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.

Vernes SC, MacDermot KD, Monaco AP, Fisher SE. Vernes SC, et al. Among authors: fisher se. Eur J Hum Genet. 2009 Oct;17(10):1354-8. doi: 10.1038/ejhg.2009.43. Epub 2009 Apr 8. Eur J Hum Genet. 2009. PMID: 19352412 Free PMC article.

4

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. O'Roak BJ, et al. Among authors: fisher se. Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572417 Free PMC article.

5

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. Deriziotis P, et al. Among authors: fisher se. Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954. Nat Commun. 2014. PMID: 25232744 Free PMC article.

6

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.

Simpson NH, Ceroni F, Reader RH, Covill LE, Knight JC; SLI Consortium; Hennessy ER, Bolton PF, Conti-Ramsden G, O'Hare A, Baird G, Fisher SE, Newbury DF. Simpson NH, et al. Among authors: fisher se. Eur J Hum Genet. 2015 Oct;23(10):1370-7. doi: 10.1038/ejhg.2014.296. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585696 Free PMC article.

7

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

Lozano R, Vino A, Lozano C, Fisher SE, Deriziotis P. Lozano R, et al. Among authors: fisher se. Eur J Hum Genet. 2015 Dec;23(12):1702-7. doi: 10.1038/ejhg.2015.66. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853299 Free PMC article.

8

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

Fedorenko E, Morgan A, Murray E, Cardinaux A, Mei C, Tager-Flusberg H, Fisher SE, Kanwisher N. Fedorenko E, et al. Among authors: fisher se. Eur J Hum Genet. 2016 Feb;24(2):302-6. doi: 10.1038/ejhg.2015.149. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173965 Free PMC article.

9

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE. Sollis E, et al. Among authors: fisher se. Hum Mol Genet. 2016 Feb 1;25(3):546-57. doi: 10.1093/hmg/ddv495. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647308

10

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

Fedorenko E, Morgan A, Murray E, Cardinaux A, Mei C, Tager-Flusberg H, Fisher SE, Kanwisher N. Fedorenko E, et al. Among authors: fisher se. Eur J Hum Genet. 2016 Feb;24(2):310. doi: 10.1038/ejhg.2015.230. Eur J Hum Genet. 2016. PMID: 26763793 Free PMC article. No abstract available.

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