Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 6

Results: 11

Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 969, doi. 10.1007/s00439-021-02264-5
By:
- Hernández Cordero, Ana I.;
- Li, Xuan;
- Milne, Stephen;
- Yang, Chen Xi;
- Bossé, Yohan;
- Joubert, Philippe;
- Timens, Wim;
- van den Berge, Maarten;
- Nickle, David;
- Hao, Ke;
- Sin, Don D.
Publication type:
Article
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 957, doi. 10.1007/s00439-021-02263-6
By:
- Ahmadmehrabi, Shadi;
- Li, Binglan;
- Park, Joseph;
- Devkota, Batsal;
- Vujkovic, Marijana;
- Ko, Yi-An;
- Van Wagoner, David;
- Tang, W.H. Wilson;
- Krantz, Ian;
- Ritchie, Marylyn;
- Brant, Jason;
- Ruckenstein, Michael J.;
- Epstein, Douglas J.;
- Rader, Daniel J.
Publication type:
Article
Correction to: Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.
Published in:
2021
By:
- Hägg, Sara;
- Jylhävä, Juulia;
- Wang, Yunzhang;
- Czene, Kamila;
- Grassmann, Felix
Publication type:
Correction Notice
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 945, doi. 10.1007/s00439-021-02257-4
By:
- Norris, Kevin;
- Walne, Amanda J.;
- Ponsford, Mark J.;
- Cleal, Kez;
- Grimstead, Julia W.;
- Ellison, Alicia;
- Alnajar, Jenna;
- Dokal, Inderjeet;
- Vulliamy, Tom;
- Baird, Duncan M.
Publication type:
Article
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 933, doi. 10.1007/s00439-021-02255-6
By:
- Tingaud-Sequeira, Angèle;
- Trimouille, Aurélien;
- Salaria, Manju;
- Stapleton, Rachel;
- Claverol, Stéphane;
- Plaisant, Claudio;
- Bonneu, Marc;
- Lopez, Estelle;
- Arveiler, Benoit;
- Lacombe, Didier;
- Rooryck, Caroline
Publication type:
Article
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 849, doi. 10.1007/s00439-020-02249-w
By:
- Hägg, Sara;
- Jylhävä, Juulia;
- Wang, Yunzhang;
- Czene, Kamila;
- Grassmann, Felix
Publication type:
Article
A network-based machine-learning framework to identify both functional modules and disease genes.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 897, doi. 10.1007/s00439-020-02253-0
By:
- Yang, Kuo;
- Lu, Kezhi;
- Wu, Yang;
- Yu, Jian;
- Liu, Baoyan;
- Zhao, Yi;
- Chen, Jianxin;
- Zhou, Xuezhong
Publication type:
Article
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
By:
- Jeanne, Médéric;
- Vuillaume, Marie-Laure;
- Ung, Dévina C.;
- Vancollie, Valerie E.;
- Wagner, Christel;
- Collins, Stephan C.;
- Vonwill, Sandrine;
- Haye, Damien;
- Chelloug, Nora;
- Pfundt, Rolph;
- Kummeling, Joost;
- Moizard, Marie-Pierre;
- Marouillat, Sylviane;
- Kleefstra, Tjitske;
- Yalcin, Binnaz;
- Laumonnier, Frédéric;
- Toutain, Annick
Publication type:
Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
By:
- Salian, Smrithi;
- Benkerroum, Hind;
- Nguyen, Thi Tuyet Mai;
- Nampoothiri, Sheela;
- Kinoshita, Taroh;
- Félix, Têmis Maria;
- Stewart, Fiona;
- Sisodiya, Sanjay M.;
- Murakami, Yoshiko;
- Campeau, Philippe M.
Publication type:
Article
Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 865, doi. 10.1007/s00439-020-02250-3
By:
- Di Narzo, Antonio;
- Frades, Itziar;
- Crane, Heidi M.;
- Crane, Paul K.;
- Hulot, Jean-Sebastian;
- Kasarskis, Andrew;
- Hart, Amy;
- Argmann, Carmen;
- Dubinsky, Marla;
- Peter, Inga;
- Hao, Ke
Publication type:
Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
By:
- Vona, Barbara;
- Mazaheri, Neda;
- Lin, Sheng-Jia;
- Dunbar, Lucy A.;
- Maroofian, Reza;
- Azaiez, Hela;
- Booth, Kevin T.;
- Vitry, Sandrine;
- Rad, Aboulfazl;
- Rüschendorf, Franz;
- Varshney, Pratishtha;
- Fowler, Ben;
- Beetz, Christian;
- Alagramam, Kumar N.;
- Murphy, David;
- Shariati, Gholamreza;
- Sedaghat, Alireza;
- Houlden, Henry;
- Petree, Cassidy;
- VijayKumar, Shruthi
Publication type:
Article