Reichardt JKV - Search Results

1

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR. Higgins J, et al. Among authors: reichardt jkv. Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10. Hum Mutat. 2021. PMID: 33252176 Free PMC article.

2

Standardized nomenclature and open science in Human Genomics.

Vasiliou V, Veselkov K, Bruford E, Reichardt JKV. Vasiliou V, et al. Among authors: reichardt jkv. Hum Genomics. 2021 Feb 22;15(1):13. doi: 10.1186/s40246-021-00312-9. Hum Genomics. 2021. PMID: 33612096 Free PMC article. No abstract available.

3

Single nucleotide differences (SNDs) continue to contaminate the dbSNP database with consequences for human genomics and health.

Arthur JW, Cheung FS, Reichardt JK. Arthur JW, et al. Hum Mutat. 2015 Feb;36(2):196-9. doi: 10.1002/humu.22735. Hum Mutat. 2015. PMID: 25421747

4

Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.

Makridakis NM, Caldas Ferraz LF, Reichardt JK. Makridakis NM, et al. Hum Mutat. 2009 Jan;30(1):39-48. doi: 10.1002/humu.20810. Hum Mutat. 2009. PMID: 18623241 Free PMC article.

5

Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies.

Musumeci L, Arthur JW, Cheung FS, Hoque A, Lippman S, Reichardt JK. Musumeci L, et al. Hum Mutat. 2010 Jan;31(1):67-73. doi: 10.1002/humu.21137. Hum Mutat. 2010. PMID: 19877174 Free PMC article.

6

Molecular characterization of galactosemia (type 1) mutations in Japanese.

Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G. Ashino J, et al. Hum Mutat. 1995;6(1):36-43. doi: 10.1002/humu.1380060108. Hum Mutat. 1995. PMID: 7550229

7

Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease.

Mehrian-Shai R, Novelli G, Vasiliou V, Watt J, Reichardt JKV. Mehrian-Shai R, et al. Among authors: reichardt jkv. Hum Genomics. 2020 Jun 10;14(1):22. doi: 10.1186/s40246-020-00273-5. Hum Genomics. 2020. PMID: 32522249 Free PMC article. No abstract available.

8

Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.

Forrest ARR, Repetto GM, Reichardt JKV. Forrest ARR, et al. Among authors: reichardt jkv. Hum Genomics. 2020 Jul 8;14(1):27. doi: 10.1186/s40246-020-00275-3. Hum Genomics. 2020. PMID: 32641116 Free PMC article.

9

Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea.

Solano A, Novelli G, Baghat S, Carnici P, van Ommen GJ, Reichardt JKV. Solano A, et al. Among authors: reichardt jkv. Eur J Hum Genet. 2020 Jan;28(1):122-125. doi: 10.1038/s41431-019-0461-y. Epub 2019 Aug 1. Eur J Hum Genet. 2020. PMID: 31371789 Free PMC article. No abstract available.

10

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Lin HC, Kirby LT, Ng WG, Reichardt JK. Lin HC, et al. Hum Genet. 1994 Feb;93(2):167-9. doi: 10.1007/BF00210604. Hum Genet. 1994. PMID: 8112740

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

132 results

Search Page