Sims K - Search Results

1

Novel recruitment strategy to enrich for LRRK2 mutation carriers.

Foroud T, Smith D, Jackson J, Verbrugge J, Halter C, Wetherill L, Sims K, Xin W, Arnedo V, Lasch S, Marek K; Parkinson's Progression Markers Initiativea. Foroud T, et al. Among authors: sims k. Mol Genet Genomic Med. 2015 Sep;3(5):404-12. doi: 10.1002/mgg3.151. Epub 2015 May 6. Mol Genet Genomic Med. 2015. PMID: 26436106 Free PMC article.

2

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB. Staropoli JF, et al. BMC Med Genet. 2012 Jun 24;13:50. doi: 10.1186/1471-2350-13-50. BMC Med Genet. 2012. PMID: 22727047 Free PMC article.

3

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Staropoli JF, Xin W, Sims KB. Staropoli JF, et al. J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679667

4

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.

5

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.

Maron MS, Xin W, Sims KB, Butler R, Haas TS, Rowin EJ, Desnick RJ, Maron BJ. Maron MS, et al. Am J Med. 2018 Feb;131(2):200.e1-200.e8. doi: 10.1016/j.amjmed.2017.09.010. Epub 2017 Sep 21. Am J Med. 2018. PMID: 28943383

6

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB. Brown JA, et al. Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899. Amyotroph Lateral Scler. 2012. PMID: 22292843

7

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP. Ahronowitz I, et al. Among authors: sims k. Hum Mutat. 2007 Jan;28(1):1-12. doi: 10.1002/humu.20393. Hum Mutat. 2007. PMID: 16983642

8

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: sims kb. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938

9

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R, Pesaola F, Guelbert N, Pons P, Oller-Ramírez AM, Rautenberg G, Becerra A, Sims K, Xin W, Cismondi IA, Noher de Halac I. Kohan R, et al. Among authors: sims k. Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2301-11. doi: 10.1016/j.bbadis.2015.05.003. Epub 2015 May 11. Biochim Biophys Acta. 2015. PMID: 25976102 Free article. Review.

10

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K. Xin W, et al. Among authors: sims k. Neurology. 2010 Feb 16;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d. Neurology. 2010. PMID: 20157158

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