Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 10

Results: 9

Retraction Note: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1499, doi. 10.1007/s00439-021-02352-6

By:

Li, Yi;
Zhao, Wenting;
Li, Dan;
Tao, Xianming;
Xiong, Ziyi;
Liu, Jing;
Zhang, Wei;
Ji, Anquan;
Tang, Kun;
Liu, Fan;
Li, Caixia

Publication type:

Article

Dissecting the genetic history of the Roman Catholic populations of West Coast India.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1487, doi. 10.1007/s00439-021-02346-4

By:

Kumar, Lomous;
Farias, Kranti;
Prakash, Satya;
Mishra, Anshuman;
Mustak, Mohammed S.;
Rai, Niraj;
Thangaraj, Kumarasamy

Publication type:

Article

ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5

By:

Lerner, Shaul;
Eilam, Raya;
Adler, Lital;
Baruteau, Julien;
Kreiser, Topaz;
Tsoory, Michael;
Brandis, Alexander;
Mehlman, Tevie;
Ryten, Mina;
Botia, Juan A.;
Ruiz, Sonia Garcia;
Garcia, Alejandro Cisterna;
Dionisi-Vici, Carlo;
Ranucci, Giusy;
Spada, Marco;
Mazkereth, Ram;
McCarter, Robert;
Izem, Rima;
Balmat, Thomas J.;
Richesson, Rachel

Publication type:

Article

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6

By:

Melo, Uirá Souto;
Piard, Juliette;
Fischer-Zirnsak, Björn;
Klever, Marius-Konstantin;
Schöpflin, Robert;
Mensah, Martin Atta;
Holtgrewe, Manuel;
Arbez-Gindre, Francine;
Martin, Alain;
Guigue, Virginie;
Gaillard, Dominique;
Landais, Emilie;
Roze, Virginie;
Kremer, Valerie;
Ramanah, Rajeev;
Cabrol, Christelle;
Harms, Frederike L.;
Kornak, Uwe;
Spielmann, Malte;
Mundlos, Stefan

Publication type:

Article

Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1449, doi. 10.1007/s00439-021-02342-8

By:

Chen, Zhishan;
Guo, Xingyi;
Long, Jirong;
Ping, Jie;
Li, Bingshan;
Fadden, Mary Kay;
Ahearn, Thomas U.;
Stram, Daniel O.;
Shu, Xiao-Ou;
Jia, Guochong;
Figueroa, Jonine;
the Ghana Breast Health Study team;
Adjei, Robertson;
Afriyie, Lucy;
Adjei, Anthony;
Dedey, Florence;
Vanderpuye, Verna;
Okyne, Victoria;
Ohene Oti, Naomi;
Tay, Evelyn

Publication type:

Article

The clinical utility of exome and genome sequencing across clinical indications: a systematic review.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1403, doi. 10.1007/s00439-021-02331-x

By:

Shickh, Salma;
Mighton, Chloe;
Uleryk, Elizabeth;
Pechlivanoglou, Petros;
Bombard, Yvonne

Publication type:

Article

Through 40,000 years of human presence in Southern Europe: the Italian case study.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1417, doi. 10.1007/s00439-021-02328-6

By:

Aneli, Serena;
Caldon, Matteo;
Saupe, Tina;
Montinaro, Francesco;
Pagani, Luca

Publication type:

Article

Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1441, doi. 10.1007/s00439-021-02326-8

By:

Su, Chun;
Pahl, Matthew C.;
Grant, Struan F. A.;
Wells, Andrew D.

Publication type:

Article

Evidence that geographic variation in genetic ancestry associates with uterine fibroids.

Published in:

Human Genetics, 2021, v. 140, n. 10, p. 1433, doi. 10.1007/s00439-021-02322-y

By:

Keaton, Jacob M.;
Jasper, Elizabeth A.;
Hellwege, Jacklyn N.;
Jones, Sarah H.;
Torstenson, Eric S.;
Edwards, Todd L.;
Velez Edwards, Digna R.

Publication type:

Article