Human Genetics and Genomics Advances
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68
(FIVE YEARS 68)

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1
(FIVE YEARS 1)

Published By Elsevier BV

2666-2477
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Clinical validation of genomic functional screen data: analysis of observed BRCA1 variants in an unselected population cohort

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

scholarly journals HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination

2022 ◽  
pp. 100084
Author(s):  
Alexandre Bolze ◽  
Iva Neveux ◽  
Kelly M. Schiabor Barrett ◽  
Simon White ◽  
Magnus Isaksson ◽  
...  
Keyword(s):  
Side Effects ◽  
Increased Risk

scholarly journals Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity

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

scholarly journals Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

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

scholarly journals Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation

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

scholarly journals From Karyotypes to Precision Genomics in 9p Deletion and Duplication Syndromes

2021 ◽  
pp. 100081
Author(s):  
Eleanor I. Sams ◽  
Jeffrey K. Ng ◽  
Victoria Tate ◽  
Ying-Chen Claire Hao ◽  
Yang Cao ◽  
...  

scholarly journals Rare coding variants in DNA damage repair genes associate with timing of natural menopause

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
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