Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 3

Results: 10

A study of normal copy number variations in Israeli population.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 553, doi. 10.1007/s00439-020-02225-4

By:

Maya, Idit;
Smirin-Yosef, Pola;
Kahana, Sarit;
Morag, Sne;
Yacobson, Shiri;
Agmon-Fishman, Ifaat;
Matar, Reut;
Bitton, Elisheva;
Shohat, Mordechai;
Basel-Salmon, Lina;
Salmon-Divon, Mali

Publication type:

Article

Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 529, doi. 10.1007/s00439-020-02223-6

By:

Adewuyi, Emmanuel O.;
Mehta, Divya;
Sapkota, Yadav;
International Endogene Consortium;
Yoshihara, Kosuke;
Nyegaard, Mette;
Steinthorsdottir, Valgerdur;
Morris, Andrew P.;
Fassbender, Amelie;
Rahmioglu, Nilufer;
De Vivo, Immaculata;
Buring, Julie E.;
Zhang, Futao;
Edwards, Todd L.;
Jones, Sarah;
Dorien;
Peterse, Daniëlle;
Rexrode, Kathryn M.;
Ridker, Paul M.;
Schork, Andrew J.

Publication type:

Article

Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 505, doi. 10.1007/s00439-020-02222-7

By:

Hebbar, Prashantha;
Abubaker, Jehad Ahmed;
Abu-Farha, Mohamed;
Alsmadi, Osama;
Elkum, Naser;
Alkayal, Fadi;
John, Sumi Elsa;
Channanath, Arshad;
Iqbal, Rasheeba;
Pitkaniemi, Janne;
Tuomilehto, Jaakko;
Sladek, Robert;
Al-Mulla, Fahd;
Thanaraj, Thangavel Alphonse

Publication type:

Article

Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 493, doi. 10.1007/s00439-020-02220-9

By:

Reble, Emma;
Gutierrez Salazar, Mariana;
Zakoor, Kathleen-Rose;
Khalouei, Sam;
Clausen, Marc;
Kodida, Rita;
Shickh, Salma;
Mighton, Chloe;
Cohn, Iris;
Schrader, Kasmintan A.;
Kim, Raymond H.;
Lerner-Ellis, Jordan;
Bombard, Yvonne

Publication type:

Article

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 401, doi. 10.1007/s00439-020-02219-2

By:

Gianesello, Lisa;
Del Prete, Dorella;
Anglani, Franca;
Calò, Lorenzo A.

Publication type:

Article

Resolving misalignment interference for NGS-based clinical diagnostics.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 477, doi. 10.1007/s00439-020-02216-5

By:

Lee, Che-yu;
Yen, Hai-Yun;
Zhong, Alan W.;
Gao, Hanlin

Publication type:

Article

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 457, doi. 10.1007/s00439-020-02214-7

By:

Jabato, F. M.;
Seoane, Pedro;
Perkins, James R.;
Rojano, Elena;
García Moreno, Adrián;
Chagoyen, M.;
Pazos, Florencio;
Ranea, Juan A. G.

Publication type:

Article

The shared genetic architecture of schizophrenia, bipolar disorder and lifespan.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 441, doi. 10.1007/s00439-020-02213-8

By:

Muntané, Gerard;
Farré, Xavier;
Bosch, Elena;
Martorell, Lourdes;
Navarro, Arcadi;
Vilella, Elisabet

Publication type:

Article

Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 381, doi. 10.1007/s00439-020-02212-9

By:

Thompson, Brian;
Davidson, Emily A.;
Liu, Wei;
Nebert, Daniel W.;
Bruford, Elspeth A.;
Zhao, Hongyu;
Dermitzakis, Emmanouil T.;
Thompson, David C.;
Vasiliou, Vasilis

Publication type:

Article

Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 423, doi. 10.1007/s00439-020-02211-w

By:

Sanders, Morgan;
Lawlor, James M. J.;
Li, Xiaopeng;
Schuen, John N.;
Millard, Susan L.;
Zhang, Xi;
Buck, Leah;
Grysko, Bethany;
Uhl, Katie L.;
Hinds, David;
Stenger, Cynthia L.;
Morris, Michele;
Lamb, Neil;
Levy, Hara;
Bupp, Caleb;
Prokop, Jeremy W.

Publication type:

Article