Martin CL - Search Results

1

A framework for the investigation of rare genetic disorders in neuropsychiatry.

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. Sanders SJ, et al. Among authors: martin cl. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Nat Med. 2019. PMID: 31548702 Free PMC article. Review.

2

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. Martin CL, et al. J Med Genet. 2002 Oct;39(10):734-40. doi: 10.1136/jmg.39.10.734. J Med Genet. 2002. PMID: 12362030 Free PMC article.

3

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH. Nishimura Y, et al. Among authors: martin cl. Hum Mol Genet. 2007 Jul 15;16(14):1682-98. doi: 10.1093/hmg/ddm116. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17519220

4

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Alarcón M, et al. Among authors: martin cl. Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005. Am J Hum Genet. 2008. PMID: 18179893 Free PMC article.

5

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Baldwin EL, et al. Among authors: martin cl. Am J Hum Genet. 2008 Feb;82(2):398-410. doi: 10.1016/j.ajhg.2007.10.013. Am J Hum Genet. 2008. PMID: 18252220 Free PMC article.

6

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.

Baldwin EL, Lee JY, Blake DM, Bunke BP, Alexander CR, Kogan AL, Ledbetter DH, Martin CL. Baldwin EL, et al. Among authors: martin cl. Genet Med. 2008 Jun;10(6):415-29. doi: 10.1097/GIM.0b013e318177015c. Genet Med. 2008. PMID: 18496225 Free article.

7

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. Rudd MK, et al. Among authors: martin cl. Hum Mol Genet. 2009 Aug 15;18(16):2957-62. doi: 10.1093/hmg/ddp233. Epub 2009 May 14. Hum Mol Genet. 2009. PMID: 19443486 Free PMC article.

8

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL. Moreno-De-Luca A, et al. Among authors: martin cl. J Med Genet. 2011 Feb;48(2):141-4. doi: 10.1136/jmg.2010.082263. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972249 Free PMC article.

9

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: martin cl. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.

10

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Luo Y, et al. Among authors: martin cl. Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729882 Free PMC article.

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