Boehm CD - Search Results

1

Boehm CD, Kazazian HH Jr. Boehm CD, et al. Curr Opin Biotechnol. 1990 Dec;1(2):180-7. doi: 10.1016/0958-1669(90)90028-j. Curr Opin Biotechnol. 1990. PMID: 1367855 Review.

2

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.

3

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.

Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. Sobreira N, et al. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. Hum Mutat. 2015. PMID: 25684268 Free PMC article.

4

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics. Posey JE, et al. Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Genet Med. 2019. PMID: 30655598 Free PMC article. Review.

5

Frequency and stability of the fragile X premutation.

Reiss AL, Kazazian HH Jr, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL. Reiss AL, et al. Among authors: boehm cd. Hum Mol Genet. 1994 Mar;3(3):393-8. doi: 10.1093/hmg/3.3.393. Hum Mol Genet. 1994. PMID: 8012350

6

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion.

Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH Jr. Holmes SE, et al. Among authors: boehm cd. Nat Genet. 1994 Jun;7(2):143-8. doi: 10.1038/ng0694-143. Nat Genet. 1994. PMID: 7920631

7

Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T.

Kimberland ML, Boehm CD, Kazazian HH Jr. Kimberland ML, et al. Among authors: boehm cd. Hum Mutat. 1995;5(3):275-6. doi: 10.1002/humu.1380050315. Hum Mutat. 1995. PMID: 7599641 No abstract available.

8

Molecular basis and prenatal diagnosis of beta-thalassemia.

Kazazian HH Jr, Boehm CD. Kazazian HH Jr, et al. Among authors: boehm cd. Blood. 1988 Oct;72(4):1107-16. Blood. 1988. PMID: 3048433 Free article. Review.

9

Prenatal diagnosis of sickle cell anemia--1988.

Kazazian HH Jr, Phillips DG, Dowling CE, Boehm CD. Kazazian HH Jr, et al. Among authors: boehm cd. Ann N Y Acad Sci. 1989;565:44-7. doi: 10.1111/j.1749-6632.1989.tb24148.x. Ann N Y Acad Sci. 1989. PMID: 2774428 No abstract available.

10

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D. Hofman KJ, et al. Among authors: boehm cd. Mol Biol Med. 1989 Jun;6(3):245-50. Mol Biol Med. 1989. PMID: 2615649

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