Markello TC - Search Results

1

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Among authors: markello tc. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.

2

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

3

Reply to Professor Lefthériotis et al.

Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Markello TC, et al. Mol Genet Metab. 2011 Jul;103(3):305. doi: 10.1016/j.ymgme.2011.04.008. Epub 2011 Apr 22. Mol Genet Metab. 2011. PMID: 21592834 No abstract available.

4

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR; NISC Comparative Sequencing Program; Gahl WA, Boerkoel CF. Markello TC, et al. Mol Genet Metab. 2012 Mar;105(3):382-9. doi: 10.1016/j.ymgme.2011.12.014. Epub 2011 Dec 23. Mol Genet Metab. 2012. PMID: 22264778 Free PMC article.

5

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF. Sincan M, et al. Among authors: markello tc. Hum Mutat. 2012 Apr;33(4):593-8. doi: 10.1002/humu.22034. Epub 2012 Feb 24. Hum Mutat. 2012. PMID: 22290570

6

Analysis of DNA sequence variants detected by high-throughput sequencing.

Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Adams DR, et al. Among authors: markello tc. Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28. Hum Mutat. 2012. PMID: 22290882 Free PMC article.

7

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. Dias C, et al. Among authors: markello tc. Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28. Hum Mutat. 2012. PMID: 22311686 Free PMC article.

8

An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.

Eccleston JL, Koh C, Markello TC, Gahl WA, Heller T. Eccleston JL, et al. Among authors: markello tc. Mol Genet Metab. 2012 Dec;107(4):674-8. doi: 10.1016/j.ymgme.2012.10.013. Epub 2012 Oct 23. Mol Genet Metab. 2012. PMID: 23137569 Free PMC article.

9

Genome-scale sequencing to identify genes involved in Mendelian disorders.

Markello TC, Adams DR. Markello TC, et al. Curr Protoc Hum Genet. 2013 Oct 18;79:6.13.1-6.13.19. doi: 10.1002/0471142905.hg0613s79. Curr Protoc Hum Genet. 2013. PMID: 24510651 Free PMC article.

10

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF. Lawrence L, et al. Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1. Genet Med. 2014. PMID: 24784157 Free PMC article.

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