Hamosh A - Search Results

1

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. Among authors: hamosh a. 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.

2

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, van Sant D, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: hamosh a. medRxiv [Preprint]. 2023 Apr 3:2023.03.30.23287948. doi: 10.1101/2023.03.30.23287948. medRxiv. 2023. Update in: Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029 PMID: 37066232 Free PMC article. Updated. Preprint.

3

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al. Hamosh A, et al. Am J Hum Genet. 1992 Aug;51(2):245-50. Am J Hum Genet. 1992. PMID: 1379413 Free PMC article.

4

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.

5

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

Miller PW, Hamosh A, Macek M Jr, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR. Miller PW, et al. Among authors: hamosh a. Am J Hum Genet. 1996 Jul;59(1):45-51. Am J Hum Genet. 1996. PMID: 8659542 Free PMC article.

6

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

7

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: hamosh a. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

8

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

9

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC. Eldadah ZA, et al. Among authors: hamosh a. Hum Mol Genet. 2001 Jan 15;10(2):163-9. doi: 10.1093/hmg/10.2.163. Hum Mol Genet. 2001. PMID: 11152664

10

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.

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