ScienceGate
Advanced Search
Author Search
Journal Finder
Blog
Sign in / Sign up
ScienceGate
Search
Author Search
Journal Finder
Blog
Sign in / Sign up
Human Genetics and Genomics Advances
Latest Publications
TOTAL DOCUMENTS
68
(FIVE YEARS 68)
H-INDEX
1
(FIVE YEARS 1)
Published By Elsevier BV
2666-2477
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2022.100085
◽
2022
◽
pp. 100085
Author(s):
Johnny Loke
◽
Ishraq Alim
◽
Sarah Yam
◽
Susan Klugman
◽
Li C. Xia
◽
...
Keyword(s):
Breast Cancer
◽
Breast Cancer Risk
◽
Cancer Risk
◽
Peripheral Blood Mononuclear Cells
◽
Peripheral Blood
◽
Mononuclear Cells
◽
Peripheral Blood Mononuclear
◽
Blood Mononuclear Cells
◽
Variant Analysis
Download Full-text
Clinical validation of genomic functional screen data: analysis of observed BRCA1 variants in an unselected population cohort
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2022.100086
◽
2022
◽
pp. 100086
Author(s):
Kelly M. Schiabor Barrett
◽
Max Masnick
◽
Kathryn E. Hatchell
◽
Juliann M. Savatt
◽
Natalie Banet
◽
...
Keyword(s):
Data Analysis
◽
Clinical Validation
◽
Functional Screen
◽
Population Cohort
◽
Unselected Population
Download Full-text
HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100084
◽
2022
◽
pp. 100084
Author(s):
Alexandre Bolze
◽
Iva Neveux
◽
Kelly M. Schiabor Barrett
◽
Simon White
◽
Magnus Isaksson
◽
...
Keyword(s):
Side Effects
◽
Increased Risk
Download Full-text
Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2022.100090
◽
2022
◽
pp. 100090
Author(s):
Quan Sun
◽
Weifang Liu
◽
Jonathan D. Rosen
◽
Le Huang
◽
Rhonda G. Pace
◽
...
Keyword(s):
Cystic Fibrosis
◽
Genotype Imputation
◽
Reference Panel
Download Full-text
Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100057
◽
2022
◽
Vol 3
(1)
◽
pp. 100057
Author(s):
Benjamin J. Landis
◽
Dongbing Lai
◽
Dong-Chuan Guo
◽
Joel S. Corvera
◽
Muhammad T. Idrees
◽
...
Keyword(s):
Aortic Aneurysm
◽
Thoracic Aortic Aneurysm
◽
Common Polymorphism
Download Full-text
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100062
◽
2022
◽
Vol 3
(1)
◽
pp. 100062
Author(s):
Ioannis G. Koutlas
◽
Ana-Lia Anbinder
◽
Rana Alshagroud
◽
Ana Sueli Rodrigues Cavalcante
◽
Mohammed Al Kindi
◽
...
Keyword(s):
Peripheral Nerve
◽
Onion Bulb
◽
Nerve Enlargement
Download Full-text
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100061
◽
2022
◽
Vol 3
(1)
◽
pp. 100061
Author(s):
Nelson Ugwu
◽
Lihi Atzmony
◽
Katharine T. Ellis
◽
Gauri Panse
◽
Dhanpat Jain
◽
...
Keyword(s):
Vascular Malformation
◽
Vascular Lesions
Download Full-text
Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity, while contributing to health and disease
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100083
◽
2021
◽
pp. 100083
Author(s):
Melanie H. Quiver
◽
Joseph Lachance
Keyword(s):
Tissue Specificity
◽
Health And Disease
Download Full-text
From Karyotypes to Precision Genomics in 9p Deletion and Duplication Syndromes
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100081
◽
2021
◽
pp. 100081
Author(s):
Eleanor I. Sams
◽
Jeffrey K. Ng
◽
Victoria Tate
◽
Ying-Chen Claire Hao
◽
Yang Cao
◽
...
Download Full-text
Rare coding variants in DNA damage repair genes associate with timing of natural menopause
Human Genetics and Genomics Advances
◽
10.1016/j.xhgg.2021.100079
◽
2021
◽
pp. 100079
Author(s):
Lucas D. Ward
◽
Margaret M. Parker
◽
Aimee M. Deaton
◽
Ho-Chou Tu
◽
Alexander O. Flynn-Carroll
◽
...
Keyword(s):
Dna Damage
◽
Dna Damage Repair
◽
Natural Menopause
◽
Damage Repair
◽
Coding Variants
◽
Repair Genes
Download Full-text
Load More ...
Sign in / Sign up
Close
Export Citation Format
Close
Share Document
Close