Rehm HL - Search Results

1

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS. Abou Tayoun AN, et al. Among authors: rehm hl. Genet Med. 2016 Jun;18(6):545-53. doi: 10.1038/gim.2015.141. Epub 2015 Nov 12. Genet Med. 2016. PMID: 26562227 Free article. Review.

2

A new age in the genetics of deafness.

Rehm HL, Morton CC. Rehm HL, et al. Genet Med. 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009. Genet Med. 1999. PMID: 11258632 Free article. Review.

3

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.

Alford RL, Friedman TB, Keats BJ, Kimberling WJ, Proud VK, Smith RJ, Arnos KS, Korf BR, Rehm HL, Toriello HV. Alford RL, et al. Among authors: rehm hl. Genet Med. 2003 Jul-Aug;5(4):338-41. doi: 10.1097/01.GIM.0000077415.19887.08. Genet Med. 2003. PMID: 12865764

4

A genetic approach to the child with sensorineural hearing loss.

Rehm HL. Rehm HL. Semin Perinatol. 2005 Jun;29(3):173-81. doi: 10.1053/j.semperi.2004.12.002. Semin Perinatol. 2005. PMID: 16114580 Review.

5

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID. Kenna MA, et al. Among authors: rehm hl. Am J Med Genet A. 2007 Jul 15;143A(14):1560-6. doi: 10.1002/ajmg.a.31706. Am J Med Genet A. 2007. PMID: 17455295

6

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: rehm hl. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.

7

Molecular diagnosis of hearing loss.

Rehm HL. Rehm HL. Curr Protoc Hum Genet. 2004 Nov;Chapter 9:Unit9.16. doi: 10.1002/0471142905.hg0916s43. Curr Protoc Hum Genet. 2004. PMID: 18428366

8

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. Zimmerman RS, et al. Among authors: rehm hl. Genet Med. 2010 May;12(5):268-78. doi: 10.1097/GIM.0b013e3181d6f7c0. Genet Med. 2010. PMID: 20474083 Free PMC article.

9

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Gowrisankar S, et al. Among authors: rehm hl. J Mol Diagn. 2010 Nov;12(6):818-27. doi: 10.2353/jmoldx.2010.100014. Epub 2010 Sep 23. J Mol Diagn. 2010. PMID: 20864638 Free PMC article.

10

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Jordan DM, et al. Among authors: rehm hl. Am J Hum Genet. 2011 Feb 11;88(2):183-92. doi: 10.1016/j.ajhg.2011.01.011. Am J Hum Genet. 2011. PMID: 21310275 Free PMC article.

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