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Human genetics and genomics advances : HGG advances

Additional searchable ISSN (electronic): 2666-2477

Elsevier, New York [u. a.], United States of America

Scopus rating (2024): CiteScore 5.8 SJR 1.88 SNIP 1.142

Indexed in DOAJ

Journal

Titles	Human genetics and genomics advances : HGG advances (2020 → …) Human Genetics and Genomics Advances
Additional searchable titles	Human Genetics and Genomics Advances
Additional searchable ISSN (electronic)	2666-2477
Publisher	Elsevier, New York [u. a.]
Country/Territory	United States of America
Scopus ID	21101055809
ZDB-ID	3058157-6

Keywords

ASJC Scopus subject areas

Molecular Medicine
Genetics (clinical)

Library keywords

570 Biology
610 Medicine and health

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Smits, D. J., Dekker, J., Douben, H., Schot, R., Magee, H., Bakhtiari, S. & Koehler, K. & 14 others, Huebner, A., Schuelke, M., Darvish, H., Vosoogh, S., Tafakhori, A., Jameie, M., Taghiabadi, E., Wilson, Y., Shah, M., van Slegtenhorst, M. A., Medici-van den Herik, E. G., van Ham, T. J., Kruer, M. C. & Mancini, G. M. S., 10 Oct 2024, In: Human genetics and genomics advances : HGG advances . 5 (2024), 4, 12 p., 100327.

Research output: Contribution to journal › Research article › Contributed › peer-review

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R. & Levy, M. A. & 27 others, Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., Hochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 18 Jul 2024, In: Human genetics and genomics advances : HGG advances . 5 (2024), 3, 10 p., 100289.

Research output: Contribution to journal › Research article › Contributed

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVIDef Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians & COVID Clinicians & 3 others, Orchestra Working Group, Amsterdam UMC COVID-19 Biobank & Schuetz, C., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, 12 p., 100300.

Research output: Contribution to journal › Research article › Contributed › peer-review

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

The Genomics England Research Consortium, Solve-RD Consortia, Schröck, E. & Rump, A., 13 Apr 2023, In: Human genetics and genomics advances : HGG advances . 4, 2, 19 p., 100186.

Research output: Contribution to journal › Research article › Contributed › peer-review

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Research Portal of the TU Dresden

Keywords

ASJC Scopus subject areas

Library keywords

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