Hamosh A - Search Results

1

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. Among authors: hamosh a. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. Hum Mutat. 2015. PMID: 25684268 Free PMC article.

2

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

3

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.

Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV. Hamosh A, et al. J Pediatr. 1992 Jul;121(1):131-5. doi: 10.1016/s0022-3476(05)82559-4. J Pediatr. 1992. PMID: 1385627 Free article.

4

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.

Macek M Jr, Mercier B, Macková A, Miller PW, Hamosh A, Férec C, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Hum Mutat. 1997;9(2):136-47. doi: 10.1002/(SICI)1098-1004(1997)9:2<136::AID-HUMU6>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9067754

5

Online Mendelian Inheritance in Man (OMIM).

Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. Hum Mutat. 2000;15(1):57-61. doi: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10612823

6

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA. Hamosh A, et al. Nucleic Acids Res. 2002 Jan 1;30(1):52-5. doi: 10.1093/nar/30.1.52. Nucleic Acids Res. 2002. PMID: 11752252 Free PMC article.

7

McKusick's Online Mendelian Inheritance in Man (OMIM).

Amberger J, Bocchini CA, Scott AF, Hamosh A. Amberger J, et al. Among authors: hamosh a. Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8. Nucleic Acids Res. 2009. PMID: 18842627 Free PMC article.

8

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Carrillo-Carrasco N, et al. Among authors: hamosh a. J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821145 Free PMC article.

9

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Amberger J, Bocchini C, Hamosh A. Amberger J, et al. Among authors: hamosh a. Hum Mutat. 2011 May;32(5):564-7. doi: 10.1002/humu.21466. Epub 2011 Apr 5. Hum Mutat. 2011. PMID: 21472891

10

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D. Sobreira NL, et al. Among authors: hamosh a. Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2. Genome Res. 2011. PMID: 21890680 Free PMC article.

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