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

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 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

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