Farwell K - Search Results

1

Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder.

Comings DE, Gade-Andavolu R, Gonzalez N, Wu S, Muhleman D, Blake H, Chiu F, Wang E, Farwell K, Darakjy S, Baker R, Dietz G, Saucier G, MacMurray JP. Comings DE, et al. Among authors: farwell k. Clin Genet. 2000 Jul;58(1):31-40. doi: 10.1034/j.1399-0004.2000.580106.x. Clin Genet. 2000. PMID: 10945659

2

The additive effect of neurotransmitter genes in pathological gambling.

Comings DE, Gade-Andavolu R, Gonzalez N, Wu S, Muhleman D, Chen C, Koh P, Farwell K, Blake H, Dietz G, MacMurray JP, Lesieur HR, Rugle LJ, Rosenthal RJ. Comings DE, et al. Among authors: farwell k. Clin Genet. 2001 Aug;60(2):107-16. doi: 10.1034/j.1399-0004.2001.600204.x. Clin Genet. 2001. PMID: 11553044

3

Mutation frequency is reduced in the cerebellum of Big Blue mice overexpressing a human wild type SOD1 gene.

Kunishige M, Hill KA, Riemer AM, Farwell KD, Halangoda A, Heinmöller E, Moore SR, Turner DM, Sommer SS. Kunishige M, et al. Among authors: farwell kd. Mutat Res. 2001 Feb 20;473(2):139-49. doi: 10.1016/s0027-5107(00)00120-2. Mutat Res. 2001. PMID: 11166032

4

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

Powis Z, Farwell KD, Alamillo CL, Tang S. Powis Z, et al. Among authors: farwell kd. J Hum Genet. 2016 Feb;61(2):173-5. doi: 10.1038/jhg.2015.125. Epub 2015 Oct 22. J Hum Genet. 2016. PMID: 26490185

5

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.

Hill KA, Wang J, Farwell KD, Sommer SS. Hill KA, et al. Mutat Res. 2003 Jan 10;534(1-2):173-86. doi: 10.1016/s1383-5718(02)00277-2. Mutat Res. 2003. PMID: 12504766

6

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

Hill KA, Wang J, Farwell KD, Scaringe WA, Sommer SS. Hill KA, et al. Mutat Res. 2004 Oct 4;554(1-2):223-40. doi: 10.1016/j.mrfmmm.2004.05.005. Mutat Res. 2004. PMID: 15450421

7

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S. Alamillo CL, et al. Among authors: farwell k. Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3. Prenat Diagn. 2015. PMID: 26147564

8

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S. Farwell KD, et al. Genet Med. 2015 Jul;17(7):578-86. doi: 10.1038/gim.2014.154. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25356970 Free article.

9

POGZ truncating alleles cause syndromic intellectual disability.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. White J, et al. Among authors: farwell kd. Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0. Genome Med. 2016. PMID: 26739615 Free PMC article.

10

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. Among authors: farwell kd. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.

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