1-13 of 13
Authors: Stephen S Rich
Journal Article
Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium Free
Human Molecular Genetics, Volume 33, Issue 16, 15 August 2024, Pages 1429–1441, https://doi.org/10.1093/hmg/ddae050
Published: 15 May 2024
Journal Article
A multi-ancestry genome-wide association study in type 1 diabetes Open Access
Human Molecular Genetics, Volume 33, Issue 11, 1 June 2024, Pages 958–968, https://doi.org/10.1093/hmg/ddae024
Published: 07 March 2024
Journal Article
Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data Free
Human Molecular Genetics, Volume 31, Issue 22, 15 November 2022, Pages 3873–3885, https://doi.org/10.1093/hmg/ddac117
Published: 29 June 2022
Journal Article
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative Free
Human Molecular Genetics, Volume 31, Issue 3, 1 February 2022, Pages 347–361, https://doi.org/10.1093/hmg/ddab252
Published: 06 September 2021
Journal Article
Epigenome-wide association study of mitochondrial genome copy number Free
Human Molecular Genetics, Volume 31, Issue 2, 15 January 2022, Pages 309–319, https://doi.org/10.1093/hmg/ddab240
Published: 20 August 2021
Journal Article
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels Free
Human Molecular Genetics, Volume 26, Issue 9, 1 May 2017, Pages 1770–1784, https://doi.org/10.1093/hmg/ddx062
Published: 21 February 2017
Journal Article
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci Free
Human Molecular Genetics, Volume 25, Issue 24, 15 December 2016, Pages 5500–5512, https://doi.org/10.1093/hmg/ddw358
Published: 25 November 2016
Journal Article
Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations Free
Human Molecular Genetics, Volume 25, Issue 6, 15 March 2016, Pages 1215–1224, https://doi.org/10.1093/hmg/ddw002
Published: 06 January 2016
Journal Article
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes Open Access
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1774–1790, https://doi.org/10.1093/hmg/ddu581
Published: 25 November 2014
Journal Article
Association of exome sequences with plasma C-reactive protein levels in >9000 participants Get access
Human Molecular Genetics, Volume 24, Issue 2, 15 January 2015, Pages 559–571, https://doi.org/10.1093/hmg/ddu450
Published: 03 September 2014
Journal Article
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans Get access
Human Molecular Genetics, Volume 23, Issue 24, 15 December 2014, Pages 6607–6615, https://doi.org/10.1093/hmg/ddu361
Published: 15 July 2014
Journal Article
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset Get access
Human Molecular Genetics, Volume 23, Issue 8, 15 April 2014, Pages 1957–1963, https://doi.org/10.1093/hmg/ddt588
Published: 26 November 2013
Journal Article
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest Get access
Human Molecular Genetics, Volume 7, Issue 1, January 1998, Pages 63–67, https://doi.org/10.1093/hmg/7.1.63
Published: 01 January 1998
