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